Materiały źródłowe

• #1 About Thalassemia | Thalassemia | CDC

  https://www.cdc.gov/thalassemia/about/index.html

  Thalassemia is an inherited blood disorder in which the body does not make enough hemoglobin, a red blood cell protein that carries oxygen to the cells in the body. […] When there are not enough healthy red blood cells, there is also not enough oxygen delivered to all the other cells of the body, which may cause a person to feel tired, weak or short of breath. This is a condition called anemia. People with thalassemia may have mild or severe anemia. Severe anemia can damage organs and lead to death. […] Since your body has fewer red blood cells when you have thalassemia, you may have symptoms of a low blood count, or anemia. When you have anemia, you might feel tired or weak. You might also experience: Dizziness, Shortness of breath, A fast heart beat, Headache, Leg cramps, Difficulty concentrating, Pale skin.

• #2 Thalassemia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545151/

  Thalassemia is a heterogeneous group of blood disorders affecting the hemoglobin genes and resulting in ineffective erythropoiesis. The decreased production of hemoglobin results in anemia in early age and frequent blood transfusions are required to keep up the hemoglobin levels. […] Thalassemias are a heterogeneous grouping of genetic disorders that result from a decreased synthesis of alpha or beta chains of hemoglobin (Hb). Hemoglobin serves as the oxygen-carrying component of the red blood cells. It consists of two proteins, an alpha, and a beta. If the body does not manufacture enough of one or the other of these two proteins, the red blood cells do not form correctly and cannot carry sufficient oxygen; this causes anemia that begins in early childhood and lasts throughout life. […] Beta thalassemia major is caused by a homozygous mutation (beta-zero thalassemia) of the beta-globin gene, resulting in the total absence of beta chains. It manifests clinically as jaundice, growth retardation, hepatosplenomegaly, endocrine abnormalities, and severe anemia requiring life-long blood transfusions.

• #3 Thalassemia – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995

  Thalassemia causes the body to have less of the protein hemoglobin than usual. Hemoglobin is present in red blood cells and allows the red blood cells to carry oxygen. Not having enough hemoglobin or red blood cells can lead to a condition called anemia. That can make you feel tired and weak. […] Symptoms of severe thalassemia can include: Tiredness, also called fatigue. Weakness. A change in skin color or a yellowing of skin and eyes. Changes or problems with facial bones. Slow growth. Swelling of the stomach area, also called the abdomen. Dark urine. Poor appetite. […] Some babies show symptoms of thalassemia at birth. Others get symptoms during the first two years of life. But some people with thalassemia don’t have symptoms. […] If you inherit: One gene with changes, you’ll usually have mild symptoms. This condition is called nontransfusion-dependent thalassemia. If you have no symptoms, you may hear your condition called beta-thalassemia trait or thalassemia minor.

• #4 Thalassemia – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/thalassemia/symptoms-causes/syc-20354995

  Two genes with changes, your symptoms typically will be moderate to severe. This condition is called transfusion-dependent beta-thalassemia or thalassemia major. […] Babies born with two changed beta hemoglobin genes usually are healthy at birth. They often get symptoms within the first two years of life. But it is possible to get a milder form of the disease with two changed genes.

• #5 Thalassemia: Types, Traits, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/14508-thalassemias

  Thalassemia may cause you to experience anemia-like symptoms that range from mild to severe. […] Symptoms of anemia include: Fatigue. Trouble breathing. Feeling cold. Dizziness. Pale skin. […] Thalassemia can cause mild or severe anemia and other complications over time (such as iron overload). […] Your experience will depend on the type of thalassemia you have and how severe it is. […] Beta thalassemia intermedia may cause mild anemia symptoms, or it may cause the following symptoms associated with more moderate disease: Growth problems. Delayed puberty. Bone abnormalities, such as osteoporosis. An enlarged spleen (the organ in your abdomen that plays a part in fighting infection). […] Missing three alpha genes (Hemoglobin H disease) often causes anemia symptoms at birth and leads to severe lifelong anemia. Beta thalassemia major (Cooleys anemia) often leads to severe anemia symptoms noticeable by age 2. […] Symptoms of severe anemia include those associated with mild to moderate disease. Additional symptoms may include: Poor appetite. Pale or yellowish skin (jaundice). Urine that’s dark or tea-colored. Irregular bone structure in your face.

• #6

  https://www.nhs.uk/conditions/thalassaemia/symptoms/

  Thalassaemia can cause a wide range of health problems, although treatment can help keep many of them under control. […] Children born with the main type of thalassaemia, beta thalassaemia major, usually develop symptoms a few months after birth. […] Less severe types may not cause any noticeable problems until later in childhood, or even until adulthood. […] If you have thalassaemia, you may have some of the symptoms discussed on this page. […] Almost everyone with thalassaemia major or other serious types will develop anaemia, which can be life threatening in severe cases. […] In anaemia there are low levels of haemoglobin, a substance that transports oxygen, in the blood. […] It typically causes tiredness and a general lack of energy, shortness of breath, pounding, fluttering or irregular heartbeats (palpitations), pale skin, yellowing of the skin and eyes (jaundice).

• #7 Thalassemia Trait (Minor): How Does It Affect You?

  https://www.healthline.com/health/thalassemia-trait

  Thalassemia trait means you carry the gene that causes the disease, but you dont have the disease yourself. You likely wont have symptoms or may have mild symptoms. […] People with thalassemia trait dont usually have symptoms. If symptoms occur, theyre likely to be mild. […] With thalassemia trait, your red blood cells are smaller than those in people who dont have the trait. This means you have lower levels of hemoglobin, which could result in mild anemia. Possible symptoms include: pale skin, fatigue, weakness. […] If the mutation affects two genes, you have alpha-thalassemia minor. Your red blood cells are likely to be smaller than is typical. This may cause you to experience mild anemia. […] If the inherited mutation affects only one gene, you have beta-thalassemia minor. Like in alpha-thalassemia minor, your red blood cells will be smaller, and you may experience mild anemia.

• #8 Beta Thalassemia Minor: Symptoms of Inherited Trait

  https://www.verywellhealth.com/beta-thalassemia-minor-7559510

  Beta thalassemia minor symptoms may not be apparent in everyone affected by this condition. When they occur, symptoms of mild anemia are subtle and can often be overlooked. You may not know you have this disorder until your blood is tested. […] When beta thalassemia minor results in mild hemolytic anemia (early breakdown of red blood cells), symptoms can include the following: Being moody, Fatigue, Being more weak or tired than usual, Frequent headaches, Problems concentrating. […] If anemia becomes worse, the following symptoms may also develop: Bluish color to the whites of your eyes, Feeling light-headed when moving from a sitting position to standing up, Pale appearance, Shortness of breath. […] Some people get mild anemia with it, Symptoms are often mild. Though rarely needed, treatment can involve taking folic acid, having blood transfusions, and handling iron levels in your blood.

• #9 Thalassemia Carrier Symptoms and Other FAQs

  https://www.healthline.com/health/thalassemia-carrier-symptoms

  People with thalassemia trait usually dont have any symptoms. In certain cases, like during pregnancy, thalassemia carriers may have symptoms of mild anemia, such as fatigue or headaches. […] Usually, none. In both alpha- and beta-thalassemia traits, you could have persistent mild anemia, but this usually wont cause any symptoms. A doctor may notice specific findings on blood tests, such as smaller red blood cells (RBCs) or a change in their appearance. […] When symptoms do occur, theyre usually similar to symptoms of mild anemia, including: fatigue, pale skin, headaches, dizziness, weakness. […] Symptoms and signs might be more noticeable in special cases. For example, according to one 2022 study, it was noted that thalassemia trait can increase your risk of anemia or high blood pressure in pregnancy.

• #10 Thalassemia Carrier Symptoms and Other FAQs

  https://www.healthline.com/health/thalassemia-carrier-symptoms

  If youre a thalassemia carrier, a doctor may notice that you have persistently mild anemia with smaller RBCs, but these are unlikely to cause symptoms or require treatment. […] While thalassemia trait generally wont affect your overall health, it can occasionally cause issues in pregnancy, such as high blood pressure or worsened anemia. A doctor can help screen for these conditions.

• #11 Beta Thalassemia: Types, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/23574-beta-thalassemia

  Beta thalassemia can cause you to experience anemia symptoms. […] Symptoms of anemia occur when there aren’t enough red blood cells to carry oxygen to your body’s tissues causing them to become deprived of oxygen. […] Anemia symptoms associated with beta thalassemia can range from mild to severe, depending on how low your red blood cell count is. […] Your symptoms will depend on how severe your beta thalassemia is. For instance, you may be asymptomatic (no symptoms) or have mild anemia symptoms with beta thalassemia minor. You may have moderate or more severe symptoms with beta thalassemia intermedia and especially beta thalassemia major. […] Beta thalassemia minor (beta thalassemia trait) is associated with mild anemia symptoms, including fatigue, dizziness or weakness, frequent headaches, and pale skin.

• #12 Beta Thalassemia: Types, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/23574-beta-thalassemia

  The most severe symptoms are associated with beta thalassemia major. Some of these symptoms also appear with beta thalassemia intermedia, depending on your condition’s severity. In addition to experiencing mild symptoms, you may have shortness of breath with exertion, heart palpitations, yellow skin or whites of your eyes (jaundice), dark or tea-colored urine (pee), slow growth or delayed development, swollen abdomen, and weak or misshapen bones in your arms, legs, and face. […] Infants with moderate to severe beta thalassemia may be especially fussy and get frequent infections.

• #13 Thalassemia Intermedia: Practice Essentials, Pathophysiology, Prognosis

  https://emedicine.medscape.com/article/959122-overview

  In patients with beta thalassemia intermedia, anemia is present but individuals are not transfusion dependent. A clinically heterogeneous group, patients with this disease can have symptoms that range from mild anemia, with only a rare need for transfusions, to chronic hemolysis and the development later in life of transfusion dependence. […] Despite maintaining a level of hemoglobin sufficient for tissue oxygenation, patients with thalassemia can develop a range of complications due to longstanding hemolytic anemia and ineffective erythropoiesis, including jaundice, splenomegaly, bone deformities, osteoporosis, fractures, growth retardation, extramedullary hematopoietic pseudotumors, pulmonary hypertension, thromboembolism, iron overload, and skin ulcers. […] Being clinically heterogenous, beta thalassemia intermedia can range from a manifestation in which patients rarely, if ever, require transfusion to one in which individuals have chronic hemolytic anemia and in later life become transfusion dependent. Although these patients sustain hemoglobin levels adequate for survival, the underlying ineffective erythropoiesis can fuel various complications, including iron overload, extramedullary hematopoiesis, hemolysis, and hypercoagulability.

• #14 Signs, Symptoms, and Complications of Thalassemias | Hematology-Oncology Associates of CNY

  https://www.hoacny.com/patient-resources/blood-disorders/what-thalassemias/signs-symptoms-and-complications-thalassemias

  A lack of oxygen in the bloodstream causes the signs and symptoms of thalassemias. The severity of symptoms depends on the severity of the disorder. […] People who have alpha or beta thalassemia trait can have mild anemia. However, many people who have these types of thalassemia have no signs or symptoms. […] People who have beta thalassemia intermedia have mild to moderate anemia. They also may have other health problems, such as: Slowed growth and delayed puberty. Anemia can slow down a child’s growth and development. Bone problems. Thalassemia may cause bone marrow to expand. Bone marrow is the spongy substance inside bones that makes blood cells. When bone marrow expands, the bones become wider than normal. They may become brittle and break easily. An enlarged spleen. The spleen is an organ that helps your body fight infection and remove unwanted material. When a person has thalassemia, the spleen has to work very hard. As a result, the spleen becomes larger than normal. This makes anemia worse. If the spleen becomes too large, it must be removed.

• #15 Signs, Symptoms, and Complications of Thalassemias | Hematology-Oncology Associates of CNY

  https://www.hoacny.com/patient-resources/blood-disorders/what-thalassemias/signs-symptoms-and-complications-thalassemias

  People who have hemoglobin H disease or beta thalassemia major (also called Cooley’s anemia) have severe thalassemia. Signs and symptoms usually occur within the first 2 years of life. They may include severe anemia and other health problems, such as: A pale and listless appearance, Poor appetite, Dark urine (a sign that red blood cells are breaking down), Slowed growth and delayed puberty, Jaundice (a yellowish color of the skin or whites of the eyes), An enlarged spleen, liver, or heart, Bone problems (especially with bones in the face).

• #16 Thalassaemia | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/thalassaemia

  Thalassaemia major is a genetic condition that affects the production of haemoglobin, resulting in severe anaemia. […] Symptoms appear in early childhood. They include: severe anaemia red blood cells are produced without enough haemoglobin to carry oxygen, paleness, sleep difficulties, poor appetite, failure to grow and thrive, enlargement of organs such as the spleen and liver. […] Thalassaemia major can refer to when a person has changes in both copies of the affected gene or genes. This means that they have no fully functioning copies of the genes. […] People with either alpha- or beta-thalassaemia major will have symptoms associated with the condition. Beta-thalassaemia major is more common than alpha-thalassaemia major.

• #17 Thalassemia: Symptoms, Causes, & Treatment

  https://www.webmd.com/a-to-z-guides/what-is-thalassemia

  Your symptoms will depend on what type of thalassemia you have and how serious it is. If you’re missing two of the alpha genes or one of the beta ones, you may have no symptoms. Or you might have mild symptoms of anemia, such as tiredness. […] Thalassemia symptoms may include: Intense fatigue, Shortness of breath, Dizziness or weakness, Irregular or fast heartbeat, Headaches, Leg pain, Trouble concentrating, Pale or yellow skin, Dark urine, Lack of appetite, Slow growth, Late puberty, Wide or brittle bones, Irregular bone structure of the face, A swollen belly due to liver problems or an enlarged spleen (an organ in your belly that helps fight disease), Developmental or intellectual disabilities. […] Severe thalassemia can cause organ failure and lead to early death. But getting regular treatments can improve your health and lengthen your lifespan.

• #18 Thalassemia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545151/

  Thalassemia is a heterogeneous group of blood disorders affecting the hemoglobin genes and resulting in ineffective erythropoiesis. The decreased production of hemoglobin results in anemia in early age and frequent blood transfusions are required to keep up the hemoglobin levels. […] Thalassemias are a heterogeneous grouping of genetic disorders that result from a decreased synthesis of alpha or beta chains of hemoglobin (Hb). Hemoglobin serves as the oxygen-carrying component of the red blood cells. It consists of two proteins, an alpha, and a beta. If the body does not manufacture enough of one or the other of these two proteins, the red blood cells do not form correctly and cannot carry sufficient oxygen; this causes anemia that begins in early childhood and lasts throughout life. […] Beta thalassemia major is caused by a homozygous mutation (beta-zero thalassemia) of the beta-globin gene, resulting in the total absence of beta chains. It manifests clinically as jaundice, growth retardation, hepatosplenomegaly, endocrine abnormalities, and severe anemia requiring life-long blood transfusions.

• #19 Thalassemia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545151/

  The excess unpaired alpha-globin chains in beta-thalassemia aggregate and form precipitates that damage red cell membranes and result in intravascular hemolysis. This premature death of erythroid precursor cells leads to ineffective erythropoiesis and later results in extramedullary expansion of hematopoiesis. […] Thalassemia presentation varies widely depending on the type and severity. A complete history and physical examination can give several clues that are sometimes not obvious to the patient themselves. […] Skin can show pallor due to anemia and jaundice due to hyperbilirubinemia resulting from intravascular hemolysis. Patients usually report fatigue due to anemia as the first presenting symptom. […] Chronic iron deposition due to multiple transfusions can result in bronze skin.

• #20 Thalassemia – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/thalassemia/diagnosis-treatment/drc-20355001

  Most children with moderate to severe thalassemia show symptoms within their first two years of life. […] For moderate to severe thalassemia, treatments might include: […] Frequent blood transfusions. It’s common to need these. Some people need them as often as every few weeks. Over time, blood transfusions cause a buildup of iron in blood. That can damage the heart, liver and other organs. […] Chelation therapy. This treatment removes extra iron from the blood. Iron can build up due to regular transfusions. Some people with thalassemia who don’t have regular transfusions also can develop excess iron. Removing the excess iron is vital for your health. […] Other medicines. A medicine given by shot called luspatercept (Reblozyl) helps some people need fewer blood transfusions. A medicine taken by mouth called hydroxyurea (Hydrea, Droxia) can lower the chances of getting other health problems because of thalassemia.

• #21

  https://www.nhs.uk/conditions/thalassaemia/symptoms/

  Frequent blood transfusions are usually needed for life to stop anaemia becoming severe. […] Most people with thalassaemia major or other severe types will also be at risk of developing a range of health problems caused by a build-up of iron in the body. […] Too much iron in the body can cause heart problems including problems affecting the heart muscle (cardiomyopathy), an irregular heartbeat and heart failure, swelling and scarring of the liver (cirrhosis), delayed puberty, low levels of oestrogen (in women) or testosterone (in men), diabetes, problems with the thyroid gland (hypothyroidism) and parathyroid glands (hypoparathyroidism). […] Lifelong treatment with medicine to stop iron building up to harmful levels will usually be needed. […] Thalassaemia major or other severe types can also sometimes cause a number of other problems.

• #22 Alpha Thalassemia (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/thalassemias.html

  People with hemoglobin H disease and alpha thalassemia major have symptoms of anemia, such as: […] extreme tiredness […] pale skin […] shortness of breath […] a fast heartbeat […] yellow skin and eyes (jaundice) […] moodiness or irritability […] slow growth […] change in the shape of bones in the face and head. […] People with hemoglobin H and alpha thalassemia major also buildup extra iron in the body, either from the disease itself or from frequent blood transfusions. Extra iron can damage the heart, liver, and endocrine system. […] People with alpha thalassemia may have other serious health problems, including: […] bone deformities from changes in the bone marrow (where RBCs are made) […] an enlarged spleen. Doctors might need to remove the spleen if it gets too big or causes pain. […] gallstones. Doctors might need to remove the gallbladder if the stones cause pain or infection. […] infections, especially if doctors removed the spleen (the spleen helps fight some infections) […] diabetes from damage to the pancreas and endocrine system.

• #23 Thalassemia – Symptoms Based on Types of Thalassemia – By Dr. Om Kumari Gupta | Lybrate

  https://www.lybrate.com/topic/thalassemia-symptoms-based-on-types-of-thalassemia/b2ae7650baa70b98be481c415bafd67b

  Thalassemia is a genetic (which is passed from parents to children through genes) blood disorder. People with Thalassemia disease are not able to make enough hemoglobin, which causes severe anemia. Hemoglobin is found in red blood cells and carries oxygen to all parts of the body. When there is not enough hemoglobin in the red blood cells, oxygen cannot get to all parts of the body. Organs then become starved for oxygen and are unable to function properly. […] The symptoms depend on the type of thalassemia: […] Beta-thalassemia comes in two serious types, which are thalassemia major, or Cooleys anemia, and thalassemia intermedia. The symptoms of thalassemia major generally appear before a childs second birthday. The severe anemia related to this condition can be life-threatening. Other signs and symptoms include: fussiness, paleness, frequent infections, a poor appetite, failure to thrive, jaundice, which is a yellowing of the skin or the whites of the eyes, enlarged organs.

• #24 Thalassemia – Symptoms Based on Types of Thalassemia – By Dr. Om Kumari Gupta | Lybrate

  https://www.lybrate.com/topic/thalassemia-symptoms-based-on-types-of-thalassemia/b2ae7650baa70b98be481c415bafd67b

  This form of thalassemia is usually so severe that it requires regular blood transfusions. […] Alpha-thalassemia also has two serious types, which are hemoglobin H disease and hydrops fetalis. Hemoglobin H disease can cause bone issues. The cheeks, forehead, and jaw may all overgrow. Hemoglobin H disease can cause: jaundice, which is a yellowing of the skin or the whites of the eyes, an extremely enlarged spleen, malnourishment. […] Hydrops fetalis is an extremely severe form of thalassemia. It occurs before birth. Most individuals with this condition are either stillborn or die shortly after being born.

• #25

  https://www.nhs.uk/conditions/thalassaemia/

  Most people born with thalassaemia experience health problems from a few months after birth. […] Less severe cases may not be noticeable until later in childhood or even until adulthood. […] The main health conditions associated with thalassaemia are: anaemia severe tiredness, weakness, shortness of breath, pounding, fluttering or irregular heartbeats (palpitations) and pale skin caused by the lack of haemoglobin. […] Some people may also have delayed growth, weak and fragile bones (osteoporosis), and reduced fertility. […] Although the main health problems associated with thalassaemia can often be managed with treatment, it’s still a serious health condition that can have a significant impact on a person’s life. […] Without close monitoring and regular treatment, the most severe types can cause serious organ damage and be life threatening. […] In the past, severe thalassaemia was often fatal by early adulthood. But with current treatments, people are likely to live into their 50s, 60s and beyond.

• #26 Thalassemia – Wikipedia

  https://en.wikipedia.org/wiki/Thalassemia

  In thalassemia, ineffective erythropoiesis causes the bone marrow to expand. This expansion is a compensatory response to the damage caused to red blood cells by the imbalanced production of globin chains. […] People with thalassemia can get too much iron in their bodies, either from the disease itself as RBCs are destroyed, or as a consequence of frequent blood transfusions. […] The immune system can become compromised in a number of ways; anemia, iron overload, and hypersplenism may affect the immune response and increase the risk of severe infection.

• #27

  https://www.nhs.uk/conditions/thalassaemia/symptoms/

  Frequent blood transfusions are usually needed for life to stop anaemia becoming severe. […] Most people with thalassaemia major or other severe types will also be at risk of developing a range of health problems caused by a build-up of iron in the body. […] Too much iron in the body can cause heart problems including problems affecting the heart muscle (cardiomyopathy), an irregular heartbeat and heart failure, swelling and scarring of the liver (cirrhosis), delayed puberty, low levels of oestrogen (in women) or testosterone (in men), diabetes, problems with the thyroid gland (hypothyroidism) and parathyroid glands (hypoparathyroidism). […] Lifelong treatment with medicine to stop iron building up to harmful levels will usually be needed. […] Thalassaemia major or other severe types can also sometimes cause a number of other problems.

• #28 Thalassaemia | healthdirect

  https://www.healthdirect.gov.au/thalassaemia

  People with thalassaemia can develop other problems including: an enlarged spleen, which may sometimes need to be removed, serious infections, growth problems, hormonal problems, such as hypothyroidism, bone problems and osteoporosis, dental disease. […] A build-up of iron as a result of blood transfusions can cause: heart problems, such as heart failure or arrythmias, liver problems, diabetes, delayed puberty, fertility problems. […] Thalassemia is a lifelong medical condition, but you can live a relatively normal life with ongoing medical treatment.

• #29 Thalassemia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545151/

  Anemia can inhibit a child’s growth rate, and thalassemia can cause a delay in puberty. […] Iron overload can lead to its deposition in various organ systems of the body and resultant decreased functioning of the respective systems. […] Thalassemia major is a severe disease, and the long-term prognosis depends on the treatment adherence to transfusion and iron chelation therapies. […] Thalassemia major can produce the following complications: Jaundice and gall stones due to hyperbilirubinemia, High output cardiac failure due to severe anemia, cardiomyopathies, and arrhythmias – cardiac involvement is the major cause of mortality in thalassemia patients, Hepatosplenomegaly due to extramedullary hematopoiesis and excess iron deposition due to repeated blood transfusions, Excess iron can lead to findings of primary hemochromatosis such as endocrine abnormalities, joint problems, skin discoloration, etc. […] Slow growth rate and delayed puberty.

• #30 Thalassemia – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/thalassemia/diagnosis-treatment/drc-20355001

  Most children with moderate to severe thalassemia show symptoms within their first two years of life. […] For moderate to severe thalassemia, treatments might include: […] Frequent blood transfusions. It’s common to need these. Some people need them as often as every few weeks. Over time, blood transfusions cause a buildup of iron in blood. That can damage the heart, liver and other organs. […] Chelation therapy. This treatment removes extra iron from the blood. Iron can build up due to regular transfusions. Some people with thalassemia who don’t have regular transfusions also can develop excess iron. Removing the excess iron is vital for your health. […] Other medicines. A medicine given by shot called luspatercept (Reblozyl) helps some people need fewer blood transfusions. A medicine taken by mouth called hydroxyurea (Hydrea, Droxia) can lower the chances of getting other health problems because of thalassemia.

• #31 Thalassemia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545151/

  Extramedullary expansion of hematopoiesis results in deformed facial and other skeletal bones and an appearance known as chipmunk face. […] Iron deposition in cardiac myocytes due to chronic transfusions can disrupt the cardiac rhythm, and the result is various arrhythmias. Due to chronic anemia, overt heart failure can also result. […] Chronic hyperbilirubinemia can lead to precipitation of bilirubin gall stones and manifest as typical colicky pain of cholelithiasis. Hepatosplenomegaly can result from chronic iron deposition and also from extramedullary hematopoiesis in these organs. […] Hepatic involvement is a common finding in thalassemias, particularly due to the chronic need for transfusions. Chronic liver failure or cirrhosis can result from chronic iron deposition or transfusion-related viral hepatitis.

• #32 Thalassaemia – Zero To Finals

  https://zerotofinals.com/medicine/haematology/thalassaemia/

  Thalassaemia minor causes mild microcytic anaemia and usually only requires monitoring. […] Thalassaemia intermedia causes more significant microcytic anaemia. Patients require monitoring and may need occasional blood transfusions. They may require iron chelation to prevent iron overload. […] Patients with beta thalassaemia major are homozygous for the deletion genes. They have no functioning beta-globin genes. This is the most severe form and usually presents with severe anaemia and failure to thrive in early childhood. The bone marrow is under so much strain to produce extra red blood cells to compensate for the chronic anaemia that it expands enough to increase the risk of fractures and change the patient’s appearance. Abnormal features relating to bone changes include: Frontal bossing (prominent forehead), Enlarged maxilla (prominent cheekbones), Depressed nasal bridge (flat nose), Protruding upper teeth. Management involves regular transfusions, iron chelation and splenectomy. A bone marrow transplant can be curative.

• #33 Thalassaemia: Symptoms and Treatment | Doctor

  https://patient.info/doctor/thalassaemia-pro

  Symptoms of thalassaemia (presentation) The stage of presentation depends upon the severity of the disease. In most patients with either -thalassaemia or -thalassaemia traits there are no signs or symptoms. Symptoms of haemolytic anaemia (eg, pallor and hepatosplenomegaly) at birth in thalassaemia, or from several months after birth in thalassaemia, indicate severe disease, especially if microcytic anaemia is present. […] In thalassaemia, symptoms of anaemia start when the chain production ceases and the chains fail to form in adequate numbers. This is usually in the latter part of the first year of life but can be as late as 5 years old because of delay in stopping HbF production. […] Presentation of thalassaemia major in infancy often includes failure to thrive, vomiting feeds, sleepiness, stunted growth and irritability.

• #34 Thalassaemia: Symptoms and Treatment | Doctor

  https://patient.info/doctor/thalassaemia-pro

  Symptoms are related to the severity of anaemia and vary along a spectrum. In untreated thalassaemia major they tend to be extremely debilitating but may be mild or absent in those with milder forms of disease. […] In patients with the severe forms, the findings on physical examination vary widely depending on how well the disease is controlled. In severe, untreated cases there may be: Hepatosplenomegaly. Bony deformities (frontal bossing, prominent facial bones, and dental malocclusion). Marked pallor and slight to moderate jaundice. Exercise intolerance, cardiac flow murmur or heart failure secondary to severe anaemia. […] Growth restriction is common even with well-controlled chelation therapy. […] If a patient, particularly a child, presents with microcytic, hypochromic anaemia and fails to respond to iron, consider haemoglobinopathies. Thalassaemia must be excluded, as giving more iron will only aggravate the condition.

• #35

  https://www.nhs.uk/conditions/thalassaemia/symptoms/

  These include delayed growth during childhood, small stones in the gallbladder (gallstones), which can cause inflammation of the gallbladder (cholecystitis), stomach ache and jaundice, unusual bone growth, such as an enlarged forehead or cheeks, weak, fragile bones (osteoporosis), reduced fertility some people with thalassaemia may need fertility treatment to help them have children.

• #36 Thalassaemia | nidirect

  https://www.nidirect.gov.uk/conditions/thalassaemia

  Thalassaemia major or other severe types can also sometimes cause a number of other problems, including: delayed growth during childhood, gallstones (small stones in the gallbladder), which can cause inflammation of the gallbladder (cholecystitis), tummy (abdominal) pain and jaundice, unusual bone growth, such as an enlarged forehead or cheeks, weak, fragile bones (osteoporosis), reduced fertility some people with thalassaemia may need fertility treatment to help them have children. […] Although the main problems associated with thalassaemia can often be managed with treatment, it’s still a serious condition that can have a significant impact on a person’s life. […] Without close monitoring and regular treatment, the most severe types can cause serious organ damage and can be life-threatening.

• #37 Thalassemia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK545151/

  Extramedullary expansion of hematopoiesis results in deformed facial and other skeletal bones and an appearance known as chipmunk face. […] Iron deposition in cardiac myocytes due to chronic transfusions can disrupt the cardiac rhythm, and the result is various arrhythmias. Due to chronic anemia, overt heart failure can also result. […] Chronic hyperbilirubinemia can lead to precipitation of bilirubin gall stones and manifest as typical colicky pain of cholelithiasis. Hepatosplenomegaly can result from chronic iron deposition and also from extramedullary hematopoiesis in these organs. […] Hepatic involvement is a common finding in thalassemias, particularly due to the chronic need for transfusions. Chronic liver failure or cirrhosis can result from chronic iron deposition or transfusion-related viral hepatitis.

• #38

  https://www.nhs.uk/conditions/thalassaemia/symptoms/

  Thalassaemia can cause a wide range of health problems, although treatment can help keep many of them under control. […] Children born with the main type of thalassaemia, beta thalassaemia major, usually develop symptoms a few months after birth. […] Less severe types may not cause any noticeable problems until later in childhood, or even until adulthood. […] If you have thalassaemia, you may have some of the symptoms discussed on this page. […] Almost everyone with thalassaemia major or other serious types will develop anaemia, which can be life threatening in severe cases. […] In anaemia there are low levels of haemoglobin, a substance that transports oxygen, in the blood. […] It typically causes tiredness and a general lack of energy, shortness of breath, pounding, fluttering or irregular heartbeats (palpitations), pale skin, yellowing of the skin and eyes (jaundice).

• #39 About Thalassemia | Thalassemia | CDC

  https://www.cdc.gov/thalassemia/about/index.html

  People with moderate and severe forms of thalassemia usually find out about their condition in childhood, since they have symptoms of severe anemia early in life. People with less severe forms of thalassemia may only find out because they are having symptoms of anemia, or maybe because a doctor finds anemia on a routine blood test or a test done for another reason.

• #40

  https://www.nhs.uk/conditions/thalassaemia/

  Most people born with thalassaemia experience health problems from a few months after birth. […] Less severe cases may not be noticeable until later in childhood or even until adulthood. […] The main health conditions associated with thalassaemia are: anaemia severe tiredness, weakness, shortness of breath, pounding, fluttering or irregular heartbeats (palpitations) and pale skin caused by the lack of haemoglobin. […] Some people may also have delayed growth, weak and fragile bones (osteoporosis), and reduced fertility. […] Although the main health problems associated with thalassaemia can often be managed with treatment, it’s still a serious health condition that can have a significant impact on a person’s life. […] Without close monitoring and regular treatment, the most severe types can cause serious organ damage and be life threatening. […] In the past, severe thalassaemia was often fatal by early adulthood. But with current treatments, people are likely to live into their 50s, 60s and beyond.

• #41 Alpha- and Beta-thalassemia: Rapid Evidence Review | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0300/p272.html

  Patients with alpha-thalassemia intermedia (deletional HbH disease) typically have a normal lifespan and may have mild anemia and splenomegaly; a small proportion will require transfusions. Patients with nondeletional HbH disease more often require transfusions, may have TDT, and have more complications. […] Most newborns with Hb Barts hydrops fetalis who did not receive intrauterine transfusion die shortly after birth. Intrauterine transfusion can increase survival. […] Persons with beta-thalassemia major lived a mean of 17 years in 1970, most dying by 30 years of age. Recent studies demonstrated mean survival ages of 50 and 57 for patients with beta-thalassemia major and minor, respectively. The increased survival is likely attributable to increasing availability of transfusion and iron chelation therapies, and improved iron overload monitoring.

• #42 Thalassemia – Wikipedia

  https://en.wikipedia.org/wiki/Thalassemia

  Symptoms depend on the type and severity of thalassemia. Carriers of thalassemia genes may have no symptoms (thalassemia minor) or very mild symptoms with occasional crisis (thalassemia intermedia); individuals who are homozygous for the mutation have severe and life threatening symptoms (thalassemia major). […] Symptoms include tiredness, pallor, bone problems, an enlarged spleen, jaundice, pulmonary hypertension, and dark urine. […] If thalassemia is untreated or undetected in the infant, this can lead to developmental issues such as slowed growth, delayed puberty, bone abnormalities, and intellectual impairment. […] More generally, impaired production of hemoglobin causes anemia, resulting in tiredness and a general lack of energy, shortness of breath, rapid or irregular heartbeat, dizziness, pale skin, yellowing of the skin and eyes (jaundice).

• #43 Thalassemias – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-hemolysis/thalassemias

  Symptoms and Signs of Thalassemias […] Clinical features of thalassemias are similar but vary in severity depending on the amount of normal hemoglobin present. […] Patients with a single alpha + allele (alpha/alpha;alpha/–) are clinically normal and are called silent carriers. […] Patients who are heterozygous with defects in 2 of the 4 genes such as two alpha + alleles (alpha/–;alpha/–) or one alpha 0 allele (alpha/alpha;–/–) tend to develop mild to moderate microcytic anemia but no symptoms. These patients have alpha-thalassemia trait (also called alpha thalassemia minor). […] Defects in 3 of the 4 genes caused by coinheritance of both alpha + and alpha 0 (alpha/–;–/–) severely impair alpha-chain production. Impaired alpha-chain production results in the formation of tetramers of excess beta-chains termed Hb H or, in infancy, gamma-chains termed Barts hemoglobin. Patients with Hb H disease often have symptomatic hemolytic anemia and splenomegaly. […] Defects in all 4 genes via 2 alpha 0 alleles (–/–;–/–) is a lethal condition in utero (hydrops fetalis), because hemoglobin that lacks alpha chains cannot transport oxygen.

• #44 Alpha-thalassaemia – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/250

  There are at least four different and distinct alpha-thalassaemias: silent carrier (1 affected alpha-globin gene), alpha-thalassaemia trait (2 affected alpha-globin genes), haemoglobin H (Hb H) disease (typically 3 affected alpha-globin genes), and alpha-thalassaemia major (also known as Hb Bart hydrops fetalis syndrome; typically deletion of all 4 alpha-globin genes). […] The severity of the clinical manifestations of anaemia and haemolysis correspond with the genetic defect and the degree of impairment in alpha-globin synthesis. […] The vast majority of alpha-thalassaemia patients are clinically well and most are asymptomatic. Many patients with Hb H are also clinically well, but are at risk for acute haemolytic episodes, aplastic crises, iron overload (even in the absence of chronic transfusions), hypersplenism, and endocrine disease. […] These defects lead to the corresponding clinical manifestations of anaemia and haemolysis of variable severity.

• #45 Thalassemias – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-hemolysis/thalassemias

  In beta-thalassemia, clinical phenotypes are classified into 3 groups based on the degree to which beta globin production is impaired: Minor (or trait), Intermedia, Major. […] Beta-thalassemia minor (trait) occurs in patients who are heterozygous (beta/beta + or beta/beta 0). These patients are usually asymptomatic with mild to moderate microcytic anemia. […] Beta-thalassemia major (or Cooley anemia) occurs in patients who are homozygous (beta 0/beta 0) or severe compound heterozygous (beta 0/beta +) and results from severe beta globin deficiency. These patients develop severe anemia and bone marrow hyperactivity. Beta-thalassemia major manifests by age 1 to 2 years with symptoms of severe anemia and transfusional and absorptive iron overload. Patients are jaundiced, and leg ulcers and cholelithiasis occur (as in sickle cell disease). Splenomegaly, often massive, is common. Splenic sequestration may develop, accelerating destruction of transfused normal red blood cells. Bone marrow hyperactivity causes thickening of the cranial bones and malar eminences. Long bone involvement predisposes to pathologic fractures and impairs growth, possibly delaying or preventing puberty. […] With iron overload, iron deposits in heart muscle may cause heart failure. Hepatic siderosis is typical, leading to functional impairment and cirrhosis. Iron chelation is usually necessary.

• #46 Beta thalassemia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/beta-thalassemia/

  Beta thalassemia is a blood disorder that reduces the production of hemoglobin. In people with beta thalassemia, low levels of hemoglobin reduce oxygen levels in the body. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. […] The signs and symptoms of thalassemia major appear within the first 2 years of life. Children develop life-threatening anemia. They do not gain weight and grow at the expected rate (failure to thrive) and may develop yellowing of the skin and whites of the eyes (jaundice). Affected individuals may have an enlarged spleen, liver, and heart, and their bones may be misshapen. […] Many people with thalassemia major have such severe symptoms that they need frequent blood transfusions to replenish their red blood cell supply. Over time, an influx of iron-containing hemoglobin from chronic blood transfusions can lead to a buildup of iron in the body, resulting in liver, heart, and hormone problems.

• #47 Beta thalassemia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/beta-thalassemia/

  Thalassemia intermedia is milder than thalassemia major. The signs and symptoms of thalassemia intermedia appear in early childhood or later in life. Affected individuals have mild to moderate anemia and may also have slow growth, bone abnormalities, and an increased risk of developing abnormal blood clots.

• #48 Beta Thalassemia Trait: Minor vs Major, Symptoms, Treatment

  https://www.medicinenet.com/beta_thalassemia/article.htm

  People with thalassemia make defective hemoglobin, the compound in blood that carries oxygen. […] Patients make defective hemoglobin. […] There are two forms of beta thalassemia: thalassemia minor and thalassemia major (also called Cooley’s anemia). […] Persons with thalassemia minor have (at most) mild anemia (slight lowering of the hemoglobin level in the blood). […] However, persons with thalassemia minor have a normal blood iron level (unless they are iron deficient for other reasons). […] The child born with thalassemia major has two genes for beta thalassemia and no normal beta-chain gene. […] This causes a striking deficiency in beta chain production and in the production of Hb A. […] Anemia begins to develop within the first months after birth. […] It becomes progressively more and more severe.

• #49 Beta Thalassemia Trait: Minor vs Major, Symptoms, Treatment

  https://www.medicinenet.com/beta_thalassemia/article.htm

  The infant fails to thrive (to grow normally) and often has problems feeding (due to easy fatigue from lack of oxygen due to profound anemia), bouts of fever, diarrhea, and other intestinal problems. […] Symptoms emerge late in the first year of life. […] The child develops pale skin, irritability, growth retardation, and swelling of the abdomen due to enlargement of the liver and spleen (hepatosplenomegaly) with jaundice. […] This is associated with severe anemia with rupture of the red blood cells (hemolytic anemia). […] A child with thalassemia major becomes dependent on blood transfusions and, although they do help, they create further problems including iron overload. […] The long-term hope is that thalassemia major will be cured by insertion of the normal beta-chain gene through gene therapy or by another modality of molecular medicine.

• #50 Thalassemia – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/thalassemia/diagnosis-treatment/drc-20355001

  Most children with moderate to severe thalassemia show symptoms within their first two years of life. […] For moderate to severe thalassemia, treatments might include: […] Frequent blood transfusions. It’s common to need these. Some people need them as often as every few weeks. Over time, blood transfusions cause a buildup of iron in blood. That can damage the heart, liver and other organs. […] Chelation therapy. This treatment removes extra iron from the blood. Iron can build up due to regular transfusions. Some people with thalassemia who don’t have regular transfusions also can develop excess iron. Removing the excess iron is vital for your health. […] Other medicines. A medicine given by shot called luspatercept (Reblozyl) helps some people need fewer blood transfusions. A medicine taken by mouth called hydroxyurea (Hydrea, Droxia) can lower the chances of getting other health problems because of thalassemia.

• #51 Thalassaemia: Causes and Types

  https://patient.info/allergies-blood-immune/thalassaemia-leaflet

  Without treatment, symptoms of BTM become gradually worse. Untreated, children with BTM usually die from infection or heart failure in childhood. […] Ideally, BTM will be diagnosed and treated early in order to prevent symptoms and reduce complications. So with good care, there may be few symptoms. […] A possible cure is having a transplant of stem cells. This means either a bone marrow transplant, or a cord blood transplant. These treatments take normal blood-making cells from a donor, and give them to the person with thalassaemia. If the transplant is successful, these cells last for life and make normal haemoglobin – a lifelong cure. […] There are two main treatments: blood transfusions and chelation treatment. […] Blood transfusions give normal red blood cells to the person with BTM. This corrects the anaemia for a while, which improves health and helps children to grow normally.

• #52 Thalassemia – Seattle Children’s

  https://www.seattlechildrens.org/conditions/thalassemia/

  Thalassemia can cause low levels of red blood cells (anemia). A child with thalassemia has a long-lasting anemia that may be mistaken for anemia caused by lack of iron. […] The anemia caused by thalassemia can vary from mild to severe. Children with the most severe forms need repeated transfusions of red blood cells. […] Some children with mild thalassemia have no symptoms at all. In other children, symptoms can range from mild to severe. […] If your child’s anemia is more severe and it is not treated, they may also have these symptoms: A liver or spleen that is larger than normal, Enlarged bones, mainly in the cheeks and forehead, Slowed growth, which may include later puberty, Heart failure. […] Children with more serious disease will see a blood specialist more often for treatment and to watch for complications that may happen over time.

• #53 Thalassemia – Seattle Children’s

  https://www.seattlechildrens.org/conditions/thalassemia/

  Some children only need a transfusion at certain times, such as when they have a major illness or infection. […] Children with severe forms of beta thalassemia must have blood transfusions every 3 to 4 weeks throughout their life, unless they are cured with a stem cell transplant. […] After a child gets many transfusions, the iron builds up in some of their organs. This is called iron overload. The iron buildup can harm the heart, liver and glands that make hormones. […] For children with serious disease who often need transfusions, treatment options may include a transplant of blood-forming stem cells from a healthy donor. A transplant can cure thalassemia because the new cells help your child’s bone marrow make normal blood cells.

• #54 Thalassaemia: Causes and Types

  https://patient.info/allergies-blood-immune/thalassaemia-leaflet

  Without treatment, symptoms of BTM become gradually worse. Untreated, children with BTM usually die from infection or heart failure in childhood. […] Ideally, BTM will be diagnosed and treated early in order to prevent symptoms and reduce complications. So with good care, there may be few symptoms. […] A possible cure is having a transplant of stem cells. This means either a bone marrow transplant, or a cord blood transplant. These treatments take normal blood-making cells from a donor, and give them to the person with thalassaemia. If the transplant is successful, these cells last for life and make normal haemoglobin – a lifelong cure. […] There are two main treatments: blood transfusions and chelation treatment. […] Blood transfusions give normal red blood cells to the person with BTM. This corrects the anaemia for a while, which improves health and helps children to grow normally.

• #55 Thalassemia – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/thalassemia/diagnosis-treatment/drc-20355001

  Most children with moderate to severe thalassemia show symptoms within their first two years of life. […] For moderate to severe thalassemia, treatments might include: […] Frequent blood transfusions. It’s common to need these. Some people need them as often as every few weeks. Over time, blood transfusions cause a buildup of iron in blood. That can damage the heart, liver and other organs. […] Chelation therapy. This treatment removes extra iron from the blood. Iron can build up due to regular transfusions. Some people with thalassemia who don’t have regular transfusions also can develop excess iron. Removing the excess iron is vital for your health. […] Other medicines. A medicine given by shot called luspatercept (Reblozyl) helps some people need fewer blood transfusions. A medicine taken by mouth called hydroxyurea (Hydrea, Droxia) can lower the chances of getting other health problems because of thalassemia.

• #56 Thalassaemia | nidirect

  https://www.nidirect.gov.uk/conditions/thalassaemia

  Frequent blood transfusions will usually be needed for life to stop anaemia becoming severe. […] Most people with thalassaemia major or other severe types will also be at risk of developing a range of problems caused by a build-up of iron in the body. […] Too much iron in the body can cause: heart problems including problems affecting the heart muscle (cardiomyopathy), an irregular heartbeat and heart failure, swelling and scarring of the liver (cirrhosis), early or delayed puberty, low levels of oestrogen (female hormone) or testosterone (male hormone), diabetes, problems with the thyroid gland (hypothyroidism) and parathyroid glands (hypoparathyroidism). […] Lifelong treatment with medication to stop iron building up to harmful levels will usually be needed. This is known as chelation therapy.

• #57 Thalassaemia: Causes and Types

  https://patient.info/allergies-blood-immune/thalassaemia-leaflet

  Chelation treatment is important, to remove iron from the body. With thalassaemia, the body gets overloaded with iron. […] Complications of anaemia and transfusions Untreated anaemia can affect growth and bone development because the bone marrow expands to try to make more blood cells. […] Untreated, BTM is a severe illness with worsening anaemia, infections and heart failure. Without treatment, this usually leads to death by the age of 5 years. With treatment, the outlook (prognosis) is good because anaemia and complications can be controlled by transfusions and chelation treatment. […] The long-term outlook depends on how well complications can be prevented, particularly the iron overload. Early deaths can still occur, and children sometimes develop complications such as poor growth. What makes the most difference to the outlook is good chelation treatment.

• #58 Thalassemia – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/thalassemia/diagnosis-treatment/drc-20355001

  Most children with moderate to severe thalassemia show symptoms within their first two years of life. […] For moderate to severe thalassemia, treatments might include: […] Frequent blood transfusions. It’s common to need these. Some people need them as often as every few weeks. Over time, blood transfusions cause a buildup of iron in blood. That can damage the heart, liver and other organs. […] Chelation therapy. This treatment removes extra iron from the blood. Iron can build up due to regular transfusions. Some people with thalassemia who don’t have regular transfusions also can develop excess iron. Removing the excess iron is vital for your health. […] Other medicines. A medicine given by shot called luspatercept (Reblozyl) helps some people need fewer blood transfusions. A medicine taken by mouth called hydroxyurea (Hydrea, Droxia) can lower the chances of getting other health problems because of thalassemia.

• #59 Thalassemia – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/thalassemia/diagnosis-treatment/drc-20355001

  Stem cell transplant. This also is called a bone marrow transplant. Sometimes, it might be a treatment option. For children with severe thalassemia, it can get rid of the need for lifelong blood transfusions and drugs to control iron overload. […] Most often, tests find moderate to severe forms of thalassemia within the first two years of life. If you’ve noticed some of the symptoms of thalassemia in your infant or child, see your child’s pediatrician or the health care professional who cares for your family.

• #60

  https://www.gov.uk/government/publications/baby-at-risk-of-having-thalassaemia-description-in-brief/information-and-choices-for-women-and-couples-at-risk-of-having-a-child-with-thalassaemia-major

  People with thalassaemia major need blood transfusions every 3 to 5 weeks throughout their life. Regular blood transfusions cause a build-up (or overload) of iron in the body. Medicine to remove this extra iron is needed throughout a persons life. This is called iron chelation therapy. […] It is important to treat any complications that occur due to anaemia or iron overload, such as delayed growth, heart or bone conditions. […] The only cure for thalassaemia major is a bone marrow (or stem cell) transplant. This is a complicated procedure which is only suitable for people with thalassaemia major who have a matching donor.

• #61 Thalassemias – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-hemolysis/thalassemias

  Prognosis for Thalassemias […] Life expectancy is normal for people with beta-thalassemia minor or alpha-thalassemia minor. The prognosis of Hb H disease and beta-thalassemia intermedia varies. […] Life expectancy is decreased in people with beta-thalassemia major mostly due to complications from chronic transfusions.

• #62 Alpha- and Beta-thalassemia: Rapid Evidence Review | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0300/p272.html

  Patients with alpha-thalassemia intermedia (deletional HbH disease) typically have a normal lifespan and may have mild anemia and splenomegaly; a small proportion will require transfusions. Patients with nondeletional HbH disease more often require transfusions, may have TDT, and have more complications. […] Most newborns with Hb Barts hydrops fetalis who did not receive intrauterine transfusion die shortly after birth. Intrauterine transfusion can increase survival. […] Persons with beta-thalassemia major lived a mean of 17 years in 1970, most dying by 30 years of age. Recent studies demonstrated mean survival ages of 50 and 57 for patients with beta-thalassemia major and minor, respectively. The increased survival is likely attributable to increasing availability of transfusion and iron chelation therapies, and improved iron overload monitoring.

• #63 Thalassemia: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000587.htm

  Thalassemia is a blood disorder passed down through families (inherited) in which the body makes an abnormal form or inadequate amount of hemoglobin. Hemoglobin is the protein in red blood cells that carries oxygen. The disorder results in large numbers of red blood cells being destroyed, which leads to anemia. […] The most severe form of alpha thalassemia major causes stillbirth (death of the unborn baby during birth or the late stages of pregnancy). Children born with beta thalassemia major (Cooley anemia) are normal at birth, but develop severe anemia during the first year of life. Other symptoms can include: Bone deformities in the face, Fatigue, Growth failure, Shortness of breath, Yellow skin (jaundice). […] People with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms.

• #64 Thalassemia: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000587.htm

  Severe thalassemia can cause early death (between ages 20 and 30) due to heart failure. Getting regular blood transfusions and therapy to remove iron from the body helps improve the outcome. Less severe forms of thalassemia often do not shorten lifespan. […] Untreated, thalassemia major leads to heart failure and liver problems. It also makes a person more likely to develop infections.

• #65 Alpha- and Beta-thalassemia: Rapid Evidence Review | AAFP

  https://www.aafp.org/pubs/afp/issues/2022/0300/p272.html

  Patients with alpha-thalassemia intermedia (deletional HbH disease) typically have a normal lifespan and may have mild anemia and splenomegaly; a small proportion will require transfusions. Patients with nondeletional HbH disease more often require transfusions, may have TDT, and have more complications. […] Most newborns with Hb Barts hydrops fetalis who did not receive intrauterine transfusion die shortly after birth. Intrauterine transfusion can increase survival. […] Persons with beta-thalassemia major lived a mean of 17 years in 1970, most dying by 30 years of age. Recent studies demonstrated mean survival ages of 50 and 57 for patients with beta-thalassemia major and minor, respectively. The increased survival is likely attributable to increasing availability of transfusion and iron chelation therapies, and improved iron overload monitoring.

• #66

  https://www.nhs.uk/conditions/thalassaemia/

  Most people born with thalassaemia experience health problems from a few months after birth. […] Less severe cases may not be noticeable until later in childhood or even until adulthood. […] The main health conditions associated with thalassaemia are: anaemia severe tiredness, weakness, shortness of breath, pounding, fluttering or irregular heartbeats (palpitations) and pale skin caused by the lack of haemoglobin. […] Some people may also have delayed growth, weak and fragile bones (osteoporosis), and reduced fertility. […] Although the main health problems associated with thalassaemia can often be managed with treatment, it’s still a serious health condition that can have a significant impact on a person’s life. […] Without close monitoring and regular treatment, the most severe types can cause serious organ damage and be life threatening. […] In the past, severe thalassaemia was often fatal by early adulthood. But with current treatments, people are likely to live into their 50s, 60s and beyond.

• #67

  https://www.nhs.uk/conditions/thalassaemia/symptoms/

  Frequent blood transfusions are usually needed for life to stop anaemia becoming severe. […] Most people with thalassaemia major or other severe types will also be at risk of developing a range of health problems caused by a build-up of iron in the body. […] Too much iron in the body can cause heart problems including problems affecting the heart muscle (cardiomyopathy), an irregular heartbeat and heart failure, swelling and scarring of the liver (cirrhosis), delayed puberty, low levels of oestrogen (in women) or testosterone (in men), diabetes, problems with the thyroid gland (hypothyroidism) and parathyroid glands (hypoparathyroidism). […] Lifelong treatment with medicine to stop iron building up to harmful levels will usually be needed. […] Thalassaemia major or other severe types can also sometimes cause a number of other problems.

• #68 Thalassemia: Symptoms, Causes, & Treatment

  https://www.webmd.com/a-to-z-guides/what-is-thalassemia

  Your symptoms will depend on what type of thalassemia you have and how serious it is. If you’re missing two of the alpha genes or one of the beta ones, you may have no symptoms. Or you might have mild symptoms of anemia, such as tiredness. […] Thalassemia symptoms may include: Intense fatigue, Shortness of breath, Dizziness or weakness, Irregular or fast heartbeat, Headaches, Leg pain, Trouble concentrating, Pale or yellow skin, Dark urine, Lack of appetite, Slow growth, Late puberty, Wide or brittle bones, Irregular bone structure of the face, A swollen belly due to liver problems or an enlarged spleen (an organ in your belly that helps fight disease), Developmental or intellectual disabilities. […] Severe thalassemia can cause organ failure and lead to early death. But getting regular treatments can improve your health and lengthen your lifespan.

• #69 Reddit – The heart of the internet

  https://www.reddit.com/r/thalassemia/comments/17krk1i/what_unexpected_symptoms_do_you_have_with/

  Feeling tired all of the time. I think this one is a given that it could be related to thalassemia, but until now, I’ve attributed it to my orthostatic hypotension diagnosis. The salt tablets do help a bit with this, but I don’t think I’ve ever felt „normal” energy levels ever. […] I do have scoliosis and I had intrauterine growth restriction when my mother was pregnant with me. I know these can be associated with thalassemia, but my mother also smoked during pregnancy, which could also account for my small size. I was generally small and sickly when I was a kid.

• #70 Reddit – The heart of the internet

  https://www.reddit.com/r/thalassemia/comments/17krk1i/what_unexpected_symptoms_do_you_have_with/

  Feeling tired all of the time. I think this one is a given that it could be related to thalassemia, but until now, I’ve attributed it to my orthostatic hypotension diagnosis. The salt tablets do help a bit with this, but I don’t think I’ve ever felt „normal” energy levels ever. […] I do have scoliosis and I had intrauterine growth restriction when my mother was pregnant with me. I know these can be associated with thalassemia, but my mother also smoked during pregnancy, which could also account for my small size. I was generally small and sickly when I was a kid.

• #71

  https://www.gov.uk/government/publications/baby-at-risk-of-having-thalassaemia-description-in-brief/information-and-choices-for-women-and-couples-at-risk-of-having-a-child-with-thalassaemia-major

  Thalassaemia major affects the amount of haemoglobin in red blood cells that the body produces. It is inherited from a persons biological parents. […] People with thalassaemia major cannot make enough haemoglobin. This is a serious and lifelong condition, but long-term treatment can help manage many of the symptoms. People with thalassaemia major can lead long, active and fulfilling lives if they manage their condition well and have the right care and support. […] The main symptoms of thalassaemia major are: life-threatening anaemia due to the low level of haemoglobin in the red blood cells, shortness of breath, pale skin, yellowing of the skin and eyes (jaundice). Other symptoms include delayed growth, reduced fertility, weak bones (osteoporosis) and gallstones. […] Treatment aims to correct the anaemia caused by a lack of haemoglobin in the red blood cells.

• #72

  https://www.nhs.uk/conditions/thalassaemia/symptoms/

  Frequent blood transfusions are usually needed for life to stop anaemia becoming severe. […] Most people with thalassaemia major or other severe types will also be at risk of developing a range of health problems caused by a build-up of iron in the body. […] Too much iron in the body can cause heart problems including problems affecting the heart muscle (cardiomyopathy), an irregular heartbeat and heart failure, swelling and scarring of the liver (cirrhosis), delayed puberty, low levels of oestrogen (in women) or testosterone (in men), diabetes, problems with the thyroid gland (hypothyroidism) and parathyroid glands (hypoparathyroidism). […] Lifelong treatment with medicine to stop iron building up to harmful levels will usually be needed. […] Thalassaemia major or other severe types can also sometimes cause a number of other problems.

• #73 Thalassemia Carrier Symptoms and Other FAQs

  https://www.healthline.com/health/thalassemia-carrier-symptoms

  If youre a thalassemia carrier, a doctor may notice that you have persistently mild anemia with smaller RBCs, but these are unlikely to cause symptoms or require treatment. […] While thalassemia trait generally wont affect your overall health, it can occasionally cause issues in pregnancy, such as high blood pressure or worsened anemia. A doctor can help screen for these conditions.

• #74 Thalassemia – The Family Planning Association of Hong Kong

  https://www.famplan.org.hk/en/health-info

  Most cases of alpha thalassemia major develop symptoms in the fetal or infant stage and die. […] Babies with beta thalassemia major require life long blood transfusions. […] Patients with thalassemia minor do not have obvious symptoms and can lead a normal life. […] Therefore, thalassemia should not be overlooked because it can seriously affect the next generation.

• #75 Diagnosing Thalassemias | Hematology-Oncology Associates of CNY

  https://www.hoacny.com/patient-resources/blood-disorders/what-thalassemias/diagnosing-thalassemias

  Moderate and severe thalassemias usually are diagnosed in early childhood. This is because signs and symptoms, including severe anemia, often occur within the first 2 years of life. […] People who have thalassemias have fewer healthy red blood cells and less hemoglobin than normal in their blood. […] The anemia in thalassemia occurs because of a problem with either the alpha globin or beta globin chains of hemoglobin, not because of a lack of iron. […] Tests done on the fluid or tissue can show whether your baby has thalassemia and how severe it might be.

• #76 Symptoms & Diagnosis | Northern California Comprehensive Thalassemia Center

  https://thalassemia.ucsf.edu/thalassemia-information/symptoms-diagnosis

  In most states, thalassemia is detected during newborn screening. Therefore, patients are assessed before becoming symptomatic. […] If a patient is not diagnosed at newborn screening symptoms may include: Pale or jaundice pallor, Fatigue, Shortness of breath, Pulmonary hypertension, Poor growth, Bone changes. […] If Thalassemia is left untreated, the following may occur: Enlarged liver, spleen, and heart, Thin and brittle bones, Tumor masses of extramedullary erythropoietic tissue are a common complication of the nontransfused thalassemia patient, Severe anemia, Congestive heart failure, Premature death.

• #77 Thalassemia – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/thalassemia/diagnosis-treatment/drc-20355001

  Stem cell transplant. This also is called a bone marrow transplant. Sometimes, it might be a treatment option. For children with severe thalassemia, it can get rid of the need for lifelong blood transfusions and drugs to control iron overload. […] Most often, tests find moderate to severe forms of thalassemia within the first two years of life. If you’ve noticed some of the symptoms of thalassemia in your infant or child, see your child’s pediatrician or the health care professional who cares for your family.

• #78 Symptoms & Diagnosis | Northern California Comprehensive Thalassemia Center

  https://thalassemia.ucsf.edu/thalassemia-information/symptoms-diagnosis

  In most states, thalassemia is detected during newborn screening. Therefore, patients are assessed before becoming symptomatic. […] If a patient is not diagnosed at newborn screening symptoms may include: Pale or jaundice pallor, Fatigue, Shortness of breath, Pulmonary hypertension, Poor growth, Bone changes. […] If Thalassemia is left untreated, the following may occur: Enlarged liver, spleen, and heart, Thin and brittle bones, Tumor masses of extramedullary erythropoietic tissue are a common complication of the nontransfused thalassemia patient, Severe anemia, Congestive heart failure, Premature death.

• #79 Thalassemia Symptoms & Treatment | UPMC – Pittsburgh PA

  https://www.upmc.com/services/sickle-cell/conditions/thalassemia

  People with thalassemia have had it from birth, even though it may sometimes not be apparent. […] Doctors usually diagnose moderate to severe thalassemia during infancy, since the signs and symptoms typically occur within the first 24 months of life. People with milder forms of thalassemia may not discover their status until much later, during a routine blood test, indicating that they have anemia. […] The signs and symptoms vary, depending on the type and subtype of thalassemia. […] Babies and children with one of the severe forms like Cooleys anemia (thalassemia major) or hemoglobin H disease usually exhibit symptoms of severe anemia within the first 12 months of life. The spleen often enlarges to many times its normal size, causing intense pain and a possible rupture. […] Other symptoms for moderate to severe thalassemia variants include: Facial bone deformities (abnormal bone protrusions in the face and forehead), Fatigue (a symptom of anemia), Failure to reach growth milestones, Jaundice (yellow tinged skin and whites of eyes), Shortness of breath, Heart failure (unmanaged severe thalassemia).

• #80 Thalassemia Symptoms & Treatment | UPMC – Pittsburgh PA

  https://www.upmc.com/services/sickle-cell/conditions/thalassemia

  Those with minor forms of alpha and beta thalassemias have minimal or no symptoms, but do have microcytosis (small red blood cells). A look at a blood sample under a microscope will reveal the abnormally small blood cells. […] Common complications associated with thalassemia include mild to severe anemia or an enlarged spleen that could rupture.

• #81 About Thalassemia | Thalassemia | CDC

  https://www.cdc.gov/thalassemia/about/index.html

  People with moderate and severe forms of thalassemia usually find out about their condition in childhood, since they have symptoms of severe anemia early in life. People with less severe forms of thalassemia may only find out because they are having symptoms of anemia, or maybe because a doctor finds anemia on a routine blood test or a test done for another reason.

• #82 Thalassaemia: Symptoms and Treatment | Doctor

  https://patient.info/doctor/thalassaemia-pro

  Symptoms are related to the severity of anaemia and vary along a spectrum. In untreated thalassaemia major they tend to be extremely debilitating but may be mild or absent in those with milder forms of disease. […] In patients with the severe forms, the findings on physical examination vary widely depending on how well the disease is controlled. In severe, untreated cases there may be: Hepatosplenomegaly. Bony deformities (frontal bossing, prominent facial bones, and dental malocclusion). Marked pallor and slight to moderate jaundice. Exercise intolerance, cardiac flow murmur or heart failure secondary to severe anaemia. […] Growth restriction is common even with well-controlled chelation therapy. […] If a patient, particularly a child, presents with microcytic, hypochromic anaemia and fails to respond to iron, consider haemoglobinopathies. Thalassaemia must be excluded, as giving more iron will only aggravate the condition.

• #83 Thalassaemia: Symptoms and Treatment | Doctor

  https://patient.info/doctor/thalassaemia-pro

  Symptoms are related to the severity of anaemia and vary along a spectrum. In untreated thalassaemia major they tend to be extremely debilitating but may be mild or absent in those with milder forms of disease. […] In patients with the severe forms, the findings on physical examination vary widely depending on how well the disease is controlled. In severe, untreated cases there may be: Hepatosplenomegaly. Bony deformities (frontal bossing, prominent facial bones, and dental malocclusion). Marked pallor and slight to moderate jaundice. Exercise intolerance, cardiac flow murmur or heart failure secondary to severe anaemia. […] Growth restriction is common even with well-controlled chelation therapy. […] If a patient, particularly a child, presents with microcytic, hypochromic anaemia and fails to respond to iron, consider haemoglobinopathies. Thalassaemia must be excluded, as giving more iron will only aggravate the condition.

• #84 Thalassaemia: Symptoms and Treatment | Doctor

  https://patient.info/doctor/thalassaemia-pro

  Symptoms are related to the severity of anaemia and vary along a spectrum. In untreated thalassaemia major they tend to be extremely debilitating but may be mild or absent in those with milder forms of disease. […] In patients with the severe forms, the findings on physical examination vary widely depending on how well the disease is controlled. In severe, untreated cases there may be: Hepatosplenomegaly. Bony deformities (frontal bossing, prominent facial bones, and dental malocclusion). Marked pallor and slight to moderate jaundice. Exercise intolerance, cardiac flow murmur or heart failure secondary to severe anaemia. […] Growth restriction is common even with well-controlled chelation therapy. […] If a patient, particularly a child, presents with microcytic, hypochromic anaemia and fails to respond to iron, consider haemoglobinopathies. Thalassaemia must be excluded, as giving more iron will only aggravate the condition.

• #85 Thalassaemia — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/thalassaemia/

  The severity of thalassaemia varies, from patients who are completely asymptomatic in the carrier state to patients who are severely affected and require regular blood transfusions. […] Patients with three affected alpha globin genes (HbH disease) tend to follow a variable course, with some requiring transfusions intermittently. Severely affected children, if untreated, can have the following symptoms and/or signs and may require a transfusion programme: symptoms of anaemia: tiredness, pallor, palpitations, shortness of breath and resultant poor growth; gallstones and/or jaundice (due to increased red blood cell destruction); extramedullary haematopoiesis (blood formation outside of the bone marrow) resulting in signs such as frontal bossing (a pronounced appearance of the forehead) and splenomegaly; and high blood pressure in pregnancy.

• #86 Thalassaemia — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/thalassaemia/

  Children with thalassaemia intermedia can follow a variable course, with some having significant symptoms and needing regular transfusion. […] Children with thalassemia major require a regular transfusion programme to prevent complications and facilitate normal growth and development. Symptoms and signs of untreated thalassaemia major include: symptoms of anaemia: tiredness, pallor, palpitations, shortness of breath and resultant poor growth; extramedullary haematopoiesis (blood formation outside of the bone marrow) resulting in signs such as frontal bossing (a pronounced appearance of the forehead), maxillary hypertrophy resulting in exposure of the upper teeth, and splenomegaly; gallstones and/or jaundice (due to increased red blood cell destruction); and children with thalassaemia can develop iron overload, resulting in liver, heart and/or hormonal problems, and those on a transfusion programme will require regular iron chelation therapy (medication to remove excess iron from the body).

• #87 Thalassemia | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/thalassemia

  Symptoms of thalassemia depend on the severity of the disease and how it is treated. Each child may experience symptoms differently. Patients with thalassemia trait generally do not experience any symptoms. […] The main signs and symptoms of TDT in infancy, before diagnosis and treatment, are severe anemia as well as symptoms caused by overproduction of immature, defective red blood cells. This overproduction can weaken the bones, leading to fractures and facial deformity, and cause enlargement of the spleen and liver. […] Patients with TDT do not typically experience severe anemia once they have started receiving regular transfusions. Without these transfusions, however, they can develop life-threatening anemia. […] Later in childhood and adulthood, TDT symptoms are generally the result of iron overload, a byproduct of the frequent blood transfusions patients require. Symptoms of iron overload may include: Chronic fatigue, Liver disease, Abdominal pain, Heart problems, Joint pain.

• #88 Thalassemia | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/thalassemia

  In general, children with non-transfusion-dependent thalassemia experience less severe symptoms. They need regular medical follow-up, but may not require frequent blood transfusions until later in life. The most common symptoms of NTDT are related to anemia and overproduction of immature, defective red blood cells. To avoid these symptoms, a transfusion regimen is often recommended. […] Symptoms may include: Pale skin, lips, hands, or paleness under the eyelids, Increased heart rate (tachycardia), Breathlessness or difficulty catching a breath (dyspnea), Lack of energy or tiring easily (fatigue), Dizziness or vertigo, especially upon standing, Headache, Irritability, Irregular menstrual cycles, Absent or delayed menstruation (amenorrhea), Slow or delayed growth and development, Bony overgrowth or deformities, An increased risk of bone fractures, Enlargement of the spleen or liver.

• #89 Beta Thalassemia: Practice Essentials, Etiology, Epidemiology

  https://emedicine.medscape.com/article/206490-overview

  Beta thalassemia syndromes are a group of hereditary disorders characterized by a genetic deficiency in the synthesis of beta-globin chains. In the homozygous state, beta thalassemia (ie, thalassemia major) causes severe, transfusion-dependent anemia. In the heterozygous state, the beta thalassemia trait (ie, thalassemia minor) causes mild to moderate microcytic anemia. […] Patients in whom the clinical severity of the disease lies between that of thalassemia major and thalassemia minor are categorized as having thalassemia intermedia. Several different genotypes are associated with thalassemia intermedia. […] Complications associated with beta thalassemia, aside from the aforementioned anemia, are as follows: Extramedullary hematopoiesis, Asplenia secondary to splenectomy, Medical complications from long-term transfusional therapy – Iron overload and transfusion-associated infections (eg, hepatitis); iron overload cardiomyopathy accounts for the majority of deaths in thalassemia patients, Increased risk for infections resulting from asplenia (eg, encapsulated organisms such as pneumococcus) or from iron overload (eg, Yersinia species), Cholelithiasis (eg, bilirubin stones).

• #90 Beta Thalassemia: Practice Essentials, Etiology, Epidemiology

  https://emedicine.medscape.com/article/206490-overview

  The prognosis of patients with thalassemia major is highly dependent on the patient’s adherence to long-term treatment programs, namely the hypertransfusion program and lifelong iron chelation. Allogeneic bone marrow transplantation may be curative. […] The major causes of morbidity and mortality in beta thalassemia are anemia and iron overload. The severe anemia resulting from this disease, if untreated, can result in high-output cardiac failure; the intramedullary erythroid expansion may result in associated skeletal changes such as cortical bone thinning. The long-term increase in red-cell turnover causes hyperbilirubinemia and bilirubin-containing gallstones. […] Increased iron deposition resulting from lifelong transfusions and enhanced iron absorption results in secondary iron overload. This overload causes clinical problems similar to those observed with primary hemochromatosis (eg, endocrine dysfunction, liver dysfunction, cardiac dysfunction). […] A broad spectrum of neurological complications has also been reported in beta thalassemia complications, although most were subclinical. These have included cognitive impairment, abnormal findings on evoked potentials, cerebrovascular disease, and peripheral neuropathy.

• #91 Alpha Thalassemia: Symptoms and Treatment – The Waiting Room

  https://thewaitingroom.karger.com/tell-me-about/alpha-thalassemia-symptoms-and-treatment/

  Symptoms of AT vary depending on which type of AT you have. Some people have no symptoms while others have severe symptoms that need lifelong treatment. […] Symptoms of alpha thalassemia […] With AT trait, symptoms vary from none to mild anemia. This can cause fatigue, particularly after exercise, and pale skin and you may feel weak. […] Symptoms and complications are more severe in people with HbH AT. They include anemia, enlarged liver and spleen, gallstones, abnormal bone development, blood clots and iron overload. […] Children and adults with AT major will need regular treatment to prevent severe anemia. They are also at risk of all the complications that can happen with HbH AT. […] People with more severe HbH AT and AT major will have more severe anemia, which causes increased fatigue, difficulty breathing, weakness and dizziness.

• #92 Alpha Thalassemia: Symptoms and Treatment – The Waiting Room

  https://thewaitingroom.karger.com/tell-me-about/alpha-thalassemia-symptoms-and-treatment/

  Babies born with HbH AT may have anemia but don’t usually need regular treatment. […] HbH AT and AT major can cause the liver and spleen to get bigger than normal, and your abdomen may feel uncomfortable. You may have pain too. […] These can develop because of high levels of bilirubin. Some people with gallstones have no symptoms, but others may feel bloated and sick and have abdomen pain. […] Normally, blood cells are made inside the bones by a tissue called bone marrow. In AT there are fewer circulating red blood cells and less Hb than normal. […] People with AT have a slightly increased risk of blood clots. The risk is higher in people who have had their spleen removed and the risk increases with age. […] HbH AT can cause problems with wound healing. Even minor wounds on the legs, particularly the ankles, don’t heal and may become infected and need antibiotics.

• #93 Alpha Thalassemia: Symptoms and Treatment – The Waiting Room

  https://thewaitingroom.karger.com/tell-me-about/alpha-thalassemia-symptoms-and-treatment/

  Iron overload is a common complication of AT major and HbH AT. […] Too much iron is toxic to the body as the body is not able to remove it. The excess iron increases over time and can damage your organs. […] Iron overload can cause heart damage, leading to abnormal heart rhythms and eventually heart failure. […] If you or your child have HbH AT or AT major, you will have regular health checks so that any abnormal bone development is found early. Regular blood transfusions and the treatment for iron overload usually helps prevent bone problems.

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