Materiały źródłowe

• #1 Thalassemia – Treatment | NHLBI, NIH

  https://www.nhlbi.nih.gov/health/thalassemia/treatment

  Treatments for thalassemia depend on the type and how serious it is. If you have a more serious thalassemia type like hemoglobin H disease, beta thalassemia intermedia, or beta thalassemia major you may experience moderate to serious anemia symptoms. You may need treatments such as blood transfusions, medicine, a splenectomy, or a blood and bone marrow transplant. […] Blood transfusions are the main way to treat moderate or severe thalassemia. This treatment gives you red blood cells with healthy hemoglobin. […] Regular blood transfusions (every 3 to 4 weeks) may be needed for people who have beta thalassemia major. These transfusions help maintain healthy hemoglobin and red blood cell levels. […] To prevent this, doctors use iron chelation therapy in people who receive regular blood transfusions to remove excess iron from the body.

• #1 Thalassemia – Treatment | NHLBI, NIH

  https://www.nhlbi.nih.gov/health/thalassemia/treatment

  A blood or bone marrow transplant, also called a hematopoietic stem cell transplant, replaces blood-forming stem cells that aren’t working properly with healthy donor cells. A stem cell transplant is the only treatment that can cure thalassemia. […] Medicines called luspatercept (Reblozyl) and hydroxyurea may be prescribed by a healthcare provider to treat thalassemia. Luspatercept can lessen the number of blood transfusions needed for people with moderate to severe anemia as a result of thalassemia. Hydroxyurea is usually used to treat sickle cell disease and can help lower the risk of health problems from thalassemia. […] Splenectomy is surgery to remove the spleen. Your provider may recommend splenectomy to improve your symptoms if you have mild to moderate thalassemia.

• #2 Thalassemia – Diagnosis & treatment – Mayo Clinic

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

  Mild forms of thalassemia trait don’t need treatment. […] 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. […] To help rid your body of the extra iron, you might need to take medicine by mouth. The medicines include deferasirox (Exjade, Jadenu) or deferiprone (Ferriprox). Another drug called deferoxamine (Desferal) is given through a needle in a vein.

• #2 Thalassemia – Diagnosis & treatment – Mayo Clinic

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

  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. […] 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. […] A stem cell transplant involves receiving infusions of stem cells from a donor with matching cells, often a healthy sibling.

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

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

  Medical technology has transformed a once-fatal genetic blood disease in to a chronic illness. Comprehensive treatment models and medical advances have made it possible for many people with thalassemia to experience full, productive lives. […] Treatment strategies depend on the type and severity of the disease. […] Blood transfusions represent the primary treatment protocol for those with moderate to severe thalassemia. […] Transfusions provide healthy red blood cells with normal hemoglobin. They also help people with thalassemia feel well, participate in normal daily activities, and live to adulthood. […] A small number of people require regular transfusions (transfusion dependent). Those with beta thalassemia major (Cooleys anemia) usually require blood transfusions every two to four weeks.

• #4 Treatment of Thalassemia | Thalassemia | CDC

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

  Treatments for thalassemia depend on the type and how serious it is. […] Blood transfusions are the main way to treat moderate or severe thalassemia. […] People receiving regular blood transfusions are at risk for certain complications such as iron overload, alloimmunization (a harmful immune reaction), and infection. […] People receiving transfusions may need ongoing treatment to remove excess iron before it builds up and damages the organs. […] One way to treat anemia is to provide the body with more red blood cells to carry oxygen. This can be done through a blood transfusion, a safe, common procedure in which you receive blood through a small plastic tube inserted into one of your blood vessels. […] Some people with thalassemia usually with thalassemia major need regular blood transfusions because their body makes such low amounts of hemoglobin.

• #4 Treatment of Thalassemia | Thalassemia | CDC

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

  People who are transfused regularly are at risk for a complication known as iron overload. Iron overload is when too much iron builds up in the body. The excess iron can make it hard for organs such as the heart and liver to work properly. Chelation therapy is used to prevent iron overload. This therapy removes excess iron before it builds up in the organs. […] Many times people with thalassemia are prescribed a supplemental B vitamin, known as folic acid, to help treat anemia. Folic acid can help red blood cells develop. Treatment with folic acid is usually done in addition to other therapies. […] In January 2024, the U.S. Food and Drug Administration (FDA) approved CASGEVY, a cell-based gene therapy for the treatment of transfusion-dependent beta-thalassemia in patients 12 years and older.

• #5 Beta-Thalassemia Treatment: Transfusion Guidelines and Symptom Management

  https://www.challengetdt.com/treatment-guidelines

  Lifelong supportive care with regular RBC transfusions is necessary in TDT. […] The 2021 Guidelines for the Management of TDT, published by the Thalassaemia International Federation (TIF), recommend regular lifelong transfusions, typically every 2 to 5 weeks, in patients who meet the following criteria. […] The TIF guidelines recommend regular blood transfusions, usually administered every 2 to 5 weeks, to maintain a pretransfusion level of 9.5 to 10.5 g/dL, which has been shown to help. […] Regular transfusions enable survival but only temporarily address the symptoms of TDT.

• #6 Thalassemia Intermedia Treatment & Management: Approach Considerations, Clinical Management, Surgical Intervention

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

  Thalassemia intermedia therapy is aimed not only at treating the anemia, but also at addressing iron overload and inhibiting the clinical consequences of ineffective erythropoiesis. […] The treatment of most cases of thalassemia intermedia involves close monitoring and observation, with pediatric patients being monitored for such characteristics as adequate growth, appropriate development, and skeletal deformities. […] Clinicians should strive to prevent all patients from suffering complications from extramedullary hematopoiesis and iron overload. […] Patients undergo transfusions as needed, most often in response to stressors such as illness, pregnancy, surgery, and periods of rapid growth. […] When regular transfusions are deemed necessary, many clinicians target a pretransfusion hemoglobin of around 9.5-10 g/dL as a means of suppressing bone marrow activity.

• #6 Thalassemia Intermedia Treatment & Management: Approach Considerations, Clinical Management, Surgical Intervention

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

  Evidence of cardiopulmonary compromise, significant extramedullary hematopoiesis, poor growth and development, and functional impairment all suggest that chronic transfusion therapy is required. […] Lowering the risk of transfusion complications involves efforts such as extended cross-matching to prevent alloimmunization and leukocyte depletion to reduce febrile nonhemolytic reactions. […] Even without chronic transfusion, iron overload can develop in the presence of beta thalassemia intermedia consequent to increased iron absorption from the gut. […] Available chelation therapy agents include deferoxamine (parenterally administered) and deferiprone and deferasirox (both orally administered). […] Patients should be started on chelation therapy under the following circumstances: The liver iron concentration is 5 mg Fe/g dry weight or greater; The serum ferritin level is 800 ng/mL or greater; In cases when evaluation of the liver iron concentration is not possible, the serum ferritin level is in the range between greater than 300 and less than 800 ng/mL, and other clinical or laboratory measures point to iron overload.

• #6 Thalassemia Intermedia Treatment & Management: Approach Considerations, Clinical Management, Surgical Intervention

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

  Chelation therapy is aimed at obtaining a liver iron concentration of 3 mg Fe/g dry weight or a serum ferritin level of 300 ng/mL. […] In patients with severe thalassemia intermedia who require aggressive therapy to sustain life, bone marrow transplantation, similar to that performed in patients with thalassemia major, is a reasonable alternative to transfusion and chelation if a matched sibling donor is available.

• #7 Alpha Thalassemia Treatment & Management: Approach Considerations, Iron and Folic Acid Supplementation, General Supportive Care

  https://emedicine.medscape.com/article/955496-treatment

  General supportive care in HbH disease, including transfusions, may be needed periodically or during periods of severe anemia, such as during a parvovirus infection. […] Transfusion therapy is reserved for patients with severe anemia (usually 7 g/dL) and symptomatic anemia. […] If chronic transfusion therapy is needed, iron chelation therapy should be considered to prevent iron overload. […] In very severe cases, allogeneic hematopoietic stem cell transplantation (HSCT) may be considered. […] Surgical care is not needed for silent carriers or persons with alpha thalassemia trait. However, splenectomy may be beneficial for some patients with HbH disease. […] Prenatal testing is available for families at risk (eg, families in which the parents are members of ethnic groups with the highest carrier rates). […] Patients usually undergo evaluation by a hematologist for initial diagnosis.

• #8 Alpha Thalassemia Treatment | St. Jude Care & Treatment

  https://www.stjude.org/care-treatment/treatment/blood-disorders/alpha-thalassemia.html

  Treatment for alpha thalassemia is based on the type and severity of the disorder. […] People who are carriers of alpha thalassemia trait usually have mild or no symptoms and need little or no treatment. […] Treatment for hemoglobin H disease varies depending on the level of hemoglobin. Many people have moderate anemia with mild symptoms. Some people may need blood transfusions. […] People with hydrops fetalis need transfusions throughout their lives and may have severe health problems. […] Blood transfusions are the main treatment for people with severe alpha thalassemia. This treatment provides healthy red blood cells with normal hemoglobin. Because red blood cells only live about 3 months, repeated transfusions may be needed to maintain a healthy supply of red blood cells. […] Blood transfusions are a lifesaving treatment. They can help people with alpha thalassemia feel better, live longer, and have a better quality of life. But transfusions increase the risk of transmitted infections and viruses, such as hepatitis. Careful blood screening occurs in the United States, which makes this risk much lower.

• #8 Alpha Thalassemia Treatment | St. Jude Care & Treatment

  https://www.stjude.org/care-treatment/treatment/blood-disorders/alpha-thalassemia.html

  Gene therapy makes it possible for doctors to insert a normal hemoglobin gene into stem cells in bone marrow. This could allow people with alpha thalassemia to make their own healthy hemoglobin and red blood cells. […] Scientists are studying ways to trigger the bodys ability to make fetal hemoglobin after birth. The body switches to making adult hemoglobin when a baby is born. Making more fetal hemoglobin might help replace the lack of healthy adult hemoglobin in people with alpha thalassemia.

• #9

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

  Thalassaemia usually requires lifelong treatment with blood transfusions and medicine. […] Most people with thalassaemia major or other severe types will need to have regular blood transfusions to treat anaemia. […] Blood transfusions are very safe, but they can cause too much iron to build up in the body, so you’ll need to take medicine to remove the excess iron. […] Treatment to remove excess iron caused by regular blood transfusions is known as chelation therapy. […] Each medicine has its own advantages and disadvantages. Your healthcare team will help you decide which is likely to be best for you or your child. […] Stem cell or bone marrow transplants are the only cure for thalassaemia, but they’re not done very often because of the significant risks involved. […] For people with serious types of thalassaemia, the long-term benefits of a stem cell transplant will need to be considered against the possible risks to help determine whether the treatment is suitable.

• #10 Management of thalassemia – Wikipedia

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

  Treatment of the inherited blood disorder thalassemia depends upon the level of severity. For mild forms of the condition, advice and counseling are often all that are necessary. For more severe forms, treatment may consist in blood transfusion; chelation therapy to reverse iron overload, using drugs such as deferoxamine, deferiprone, or deferasirox; medication with the antioxidant indicaxanthin to prevent the breakdown of hemoglobin; or a bone marrow transplant using material from a compatible donor, or from the patient’s mother. […] This iron overload may be treated with chelation therapy. Deferoxamine, deferiprone and deferasirox are the three most widely used iron-chelating agents. […] Deferoxamine was proven to cure many clinical complications and diseases that result from iron overload. It beneficially affects cardiac disease, such as myocardial disease which occurs as a result of iron accumulation in the heart.

• #10 Management of thalassemia – Wikipedia

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

  Deferiprone is an iron chelator that is orally active, its administration thus being much easier than that for deferoxamine. […] DFP was also found to be significantly more effective than deferoxamine in treating myocardial siderosis in patients with thalassemia major. […] Deferasirox is capable of removing iron from the blood through the coordination of two molecules of the deferasirox to a single iron ion, which forms the iron chelate (Fe-[deferasirox]2). […] The ability of deferasirox to effectively reduce LIC levels has been well documented. One study demonstrated that after 45 years of deferasirox treatment the mean LIC levels of patients decreased from 17.4 10.5 to 9.6 8.0 mg Fe/g. […] It is possible to be cured, by a bone marrow transplantation (BMT) from compatible donor. […] Betibeglogene autotemcel, sold under the brand name Zynteglo, is a gene therapy for the treatment for beta thalassemia. […] Exagamglogene autotemcel, sold under the brand name Casgevy, is a gene therapy for the treatment of transfusion-dependent beta thalassemia.

• #11 Thalassaemia. Iron chelation therapy with drug infusion pump

  https://canespa.it/en/thalassaemia.html

  One of the most popular treatments for thalassaemia is the administration of an iron-chelating drug via a portable infusion pump. […] One of the fundamental therapies for treating this pathology is based on iron-chelating drugs administered subcutaneously through an infusion pump, which bind the iron and allow it to be eliminated. […] The therapy does not require surgical interventions on the patient, thus proving to be a minimally invasive solution. The drug must be administered daily over 8-12 hours subcutaneously.

• #12 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. […] Treatment options include regular blood transfusions and bone marrow transplants. […] There is no cure for thalassaemia major and treatment must continue for life. Ongoing treatment includes regular blood transfusions to boost haemoglobin levels in the blood. However, these transfusions can lead to a build-up of iron and this can cause serious side effects, including diabetes, heart failure and liver disease. Medications can be used to remove excess iron from the blood. These medications are called iron chelators. They work by binding with the iron and allowing it to be removed by the kidneys. Chelators can be taken orally (by mouth) or injected. […] At this time, a bone marrow transplant is the only chance of a cure for thalassaemia major, but the risks are considerable. The odds of finding a compatible donor are around 30 per cent and most donors are siblings. This operation is more successful in young children who don’t suffer from iron overload, but graft rejection or even death can still result. The risks involved mean that bone marrow transplantation is not a viable option for some families. Remember that a person with thalassaemia major can live a normal life with regular transfusions and medication. Genetic research is continuing in the hope of finding a cure.

• #13 Thalassaemia: Symptoms and Treatment | Doctor

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

  The general principles of management include:1 […] Thalassaemia intermedia or HbH disease: […] Thalassaemia major: […] Regular hypertransfusion to maintain a haemoglobin level higher than 9.5 g/dL. […] Iron chelation to prevent overload syndrome. […] Education and psychological support. […] Transfusion improves both quality and quantity of life in severe cases. […] Stem cell transplantation is potentially curative, which has better outcomes when offered at young ages. […] Gene therapy is also curative. […] Desferrioxamine is given parenterally to aid iron excretion. […] Oral chelating agents have been developed and are now in use, including deferasirox and deferiprone. […] Hydroxyurea may increase the expression of chains (HbF) and remove the excess chains, which could potentially correct ineffective erythropoiesis.

• #14 Beta thalassaemia

  https://www.rch.org.au/kidsinfo/fact_sheets/Thalassaemia_an_overview/

  Thalassaemia major is a serious blood disease, with signs that begin in early childhood. Children who have thalassaemia major cannot make enough haemoglobin in their blood. This means they have significant anaemia and require regular blood transfusions. […] If your child has thalassaemia major, they will be able to live a normal life with ongoing treatment. Treatment involves regular blood transfusions to boost haemoglobin levels in the blood. However, the blood transfusions can lead to an iron overload (a build-up of iron in the blood). This overload can cause serious side effects, including diabetes, heart failure and liver disease. Medications are available to treat these side effects. […] Currently, a bone marrow transplant is the only chance of a cure for thalassaemia major, but the risks are high. The chances of finding a compatible donor are about 30 per cent, and most donors are siblings. This operation is more successful in young children who don’t suffer from iron overload, but transplant complications or even death are always risks of the procedure.

• #15 Gene Therapy for Transfusion-Dependent Beta Thalassemia | Children’s Hospital of Philadelphia

  https://www.chop.edu/treatments/gene-therapy-transfusion-dependent-beta-thalassemia

  The only FDA-approved gene therapy for beta thalassemia brings back normal red blood cells. It works by putting functional copies of the abnormal gene into a patients own blood stem cells. The red blood cells are then able to make normal or near normal levels of hemoglobin. […] CHOP is the first Qualified Treatment Center offering the only FDA-approved treatment, called Zynteglo. […] In August 2022, the FDA approved beti-cel (brand name Zynteglo), the first potentially curative gene therapy for people with transfusion-dependent beta thalassemia. […] In January 2024, the FDA approved exagamglogene autotemcel (exa-cell, brand name Casgevy) for the treatment of transfusion-dependent beta thalassemia in patients 12 years and older. […] There are currently active gene therapy clinical trials for transfusion dependent beta thalassemia.

• #16 NHS England » Gene-editing therapy that could cure blood disorder thalassaemia for NHS patients

  https://www.england.nhs.uk/2024/08/gene-editing-therapy-that-could-cure-blood-disorder-thalassaemia-for-nhs-patients/

  NHS patients living with a genetic blood disorder are set to be among the first in the world to benefit from a life-changing gene-editing treatment which offers hope of a cure. […] The one-off gene therapy, Casgevy, has been approved by for use on the NHS in England, from today (8 August), by the National Institute for Health and Care Excellence (NICE) for older children and adults with a severe form of thalassaemia. […] The NHS in England is among the first healthcare systems in the world to offer the treatment, with an estimated 460 patients in England currently living with transfusion-dependent beta thalassaemia, aged 12 and older, potentially eligible for the therapy which uses gene-editing CRISPR technology. […] In international clinical trials, 93% of patients with beta thalassaemia did not need a blood transfusion for at least a year after having the treatment, and it is hoped that the therapy could be a lifetime cure.

• #16 NHS England » Gene-editing therapy that could cure blood disorder thalassaemia for NHS patients

  https://www.england.nhs.uk/2024/08/gene-editing-therapy-that-could-cure-blood-disorder-thalassaemia-for-nhs-patients/

  The therapy, Casgevy (exagamglogene autotemcel), works by editing a gene in a patients bone marrow stem cells so that the body produces functioning haemoglobin it is the first approved therapy to use the Nobel Prize-winning CRISPR technology. […] This is a historic moment for people living with beta thalassaemia with a potential cure for those facing this debilitating disorder now available on the NHS. […] Patients also need to receive chemotherapy before treatment with Casgevy. This is followed by a 4-6 week stay in hospital to allow the treated stem cells to embed themselves in the bone marrow and begin producing healthy red blood cells. […] Previously, the only curative treatment for patients has been a stem cell transplant, but this is only available to a small number of people it can be difficult to find matched donors and peoples bodies can reject transplants.

• #16 NHS England » Gene-editing therapy that could cure blood disorder thalassaemia for NHS patients

  https://www.england.nhs.uk/2024/08/gene-editing-therapy-that-could-cure-blood-disorder-thalassaemia-for-nhs-patients/

  Gene therapy would mean a lot to me it would be a life-changing treatment. […] With gene therapy, I would potentially have a cure, and not have to have my three-weekly transfusions. […] My overall health and quality of life have significantly improved. […] This is an incredibly exciting step forward in the treatment of thalassaemia and could drastically change the lives of those living with what can be an extremely painful condition. […] We hope this ground-breaking treatment enables people with beta thalassaemia to live longer, more independent and higher quality lives without the need for regular treatments and hospital appointments and without pain, fatigue and other side effects that can come with this severe and life-limiting condition. […] With NICEs approval of gene therapy for transfusion dependent thalassaemia under the NHS managed access scheme, we stand on the brink of a revolutionary breakthrough. This transformative treatment offers patients a life-changing opportunity, enabling them to repair their own cells and embrace a future free from the challenges of their condition.

• #17 Successful treatment of transfusion-dependent β-thalassemia: multiple paths to reach potential cure | Signal Transduction and Targeted Therapy

  https://www.nature.com/articles/s41392-025-02135-9

  Thus, restoration of the balance of – and -globins is a strategy to treat -thalassemia. […] The authors suggest that the higher mVCN contributed to a better therapeutic effect with regard to hemoglobin expression. […] Alternative strategies to treat -thalassemia patients have also shown promise, including use of genome editing technologies such as clustered regularly interspaced short palindromic repeats (CRISPR)-Cas9. […] In 2023, the European Medicines Agency (EMA) approved this gene editing therapy to treat -thalassemia and severe sickle cell disease. […] While the BCL11A knockdown approach remains to be tested in -thalassemia, this may represent a useful approach for disease control. […] In conclusion, this pivotal work described by Kwiatkowski and colleagues represents the first phase 3 clinical study using lentiviral gene therapy to introduce functional copies of a modified form of the -globin gene ( A-T87Q-globin gene) into HSC isolated from patients with severe genetic forms of -thalassemia.

• #18 A Guide to Beta Thalassemia: CRISPR Gene Therapy is a Game-Changer

  https://www.synthego.com/crispr-beta-thalassemia

  CRISPR-Cas9 is a genome engineering technique that offers novel possibilities for treating beta thalassemia. CRISPR technology is revolutionizing treatment options for inherited diseases. This technique is making it possible to target a specific genomic locus and edit that site more efficiently than is possible using alternative gene editing methods. […] […] Two main CRISPR-based avenues are being pursued for the treatment of beta thalassemia. The first avenue is the repair of the mutated form of the gene encoding β-globin. This approach is challenging, given the variety of mutations that can cause beta thalassemia, and is limited to the correction of known mutations of HBB. […] […] The second CRISPR-based avenue for treatment of beta thalassemia is the replacement of the damaged or depleted form of hemoglobin with hemoglobin F, a form of the protein that is normally suppressed after infancy. Hemoglobin F is encoded by a gene distinct from HBB, and is unaffected by the disease-causing mutation. […]

• #19 New Treatment Options Are on the Horizon for β-Thalassemia

  https://www.pharmacytimes.com/view/new-treatment-options-are-on-the-horizon-for–thalassemia

  Although luspatercept-aamt has been a great advancement in the treatment of transfusion-dependent -thalassemia, a need remains for therapies that can eliminate the need for transfusions and cure the disease. […] Betibeglogene autotemcel (Zynteglo; bluebird bio) is a 1-time ex vivo gene therapy for adults, adolescents, and pediatric patients with all genotypes ( 0 0 and non-0/0) of transfusion-dependent -thalassemia. […] Treatment with betibeglogene autotemcel involves extraction of the patients stem cells, introduction of functional copies of a modified form of the -globin gene (A[T87Q]-globin gene) into the stem cells via a BB305 lentiviral vector, and infusion of the modified cells into the patient. […] Currently, betibeglogene autotemcel is approved in the European Union, United Kingdom, Iceland, Liechtenstein, and Norway for patients 12 years and older with transfusion-dependent -thalassemia who are eligible for stem cell transplant but do not have an available donor.

• #20 First gene editing therapy to treat beta thalassemia and severe sickle cell disease | European Medicines Agency (EMA)

  https://www.ema.europa.eu/en/news/first-gene-editing-therapy-treat-beta-thalassemia-and-severe-sickle-cell-disease

  Casgevy (exagamglogene autotemcel) is indicated for the treatment of transfusion-dependent beta thalassemia and severe sickle cell disease in patients 12 years of age and older for whom haematopoietic stem cell transplantation is appropriate and a suitable donor is not available. […] This new therapy may free patients from the burden of frequent transfusions and painful vaso-occlusive crises that occur when sickled red blood cells block small blood vessels, and has the potential to significantly improve their quality of life. […] Casgevy is a cell-based gene therapy medicinal product using CRISPR/Cas9 technology to edit the patient’s own blood stem cells. […] With Casgevy, stem cells are edited at the erythroid-specific enhancer region of the BCL11A gene which usually prevents the production of foetal haemoglobin (HbF). These modified cells are then infused back into the patient, and the reduction of BCL11A gene transcription leads to increase of HbF production thus providing functioning haemoglobin.

• #21 MHRA authorises world-first gene therapy that aims to cure sickle-cell disease and transfusion-dependent β-thalassemia – GOV.UK

  https://www.gov.uk/government/news/mhra-authorises-world-first-gene-therapy-that-aims-to-cure-sickle-cell-disease-and-transfusion-dependent-thalassemia

  A new treatment for sickle-cell disease and transfusion-dependent -thalassemia has been authorised by the Medicines and Healthcare products Regulatory Agency (MHRA) for patients aged 12 and over after a rigorous assessment of its safety, quality and effectiveness. […] I am pleased to announce that we have authorised an innovative and first-of-its-kind gene-editing treatment called Casgevy, which in trials has been found to restore healthy haemoglobin production in the majority of participants with sickle-cell disease and transfusion-dependent -thalassaemia, relieving the symptoms of disease. […] In the clinical trial for transfusion-dependent -thalassemia, 54 patients have currently received Casgevy but only 42 patients have been in the trial long enough to be eligible for the primary efficacy interim analysis. Of these, 39 (93%) did not need a red blood cell transfusion for at least 12 months after treatment.

• #21 MHRA authorises world-first gene therapy that aims to cure sickle-cell disease and transfusion-dependent β-thalassemia – GOV.UK

  https://www.gov.uk/government/news/mhra-authorises-world-first-gene-therapy-that-aims-to-cure-sickle-cell-disease-and-transfusion-dependent-thalassemia

  Casgevy is administered by taking stem cells out of a patients bone marrow and editing a gene in the cells in a laboratory. Patients must then undergo conditioning treatment to prepare the bone marrow before the modified cells are infused back into the patient. After that, patients may need to spend at least a month in a hospital facility while the treated cells take up residence in the bone marrow and start to make red blood cells with the stable form of haemoglobin.

• #22 MED.00140 Gene Therapy for Beta Thalassemia

  https://www.anthem.com/dam/medpolicies/abc/active/policies/mp_pw_e001856.html

  Betibeglogene autotemcel (Zynteglo) was approved by the FDA on August 17, 2022 for the treatment of adult and pediatric patients with beta thalassemia who require regular red blood cell (RBC) transfusions. The product was approved for single intravenous administration only; repeat administration of Zynteglo and its use for the treatment of other indications have not been evaluated. […] The primary endpoint was transfusion independence, defined as a weighted average hemoglobin level 9 grams (g) per deciliter (dL) starting 60 days after the last transfusion, in individuals who had not received red-cell transfusions for 12 months. […] The overall combined data for the two FDA-reviewed studies had a median follow-up of 27.2 months (range 4.1-48.2). Eighty-nine percent of evaluable participants (32/36) achieved transfusion independence.

• #23 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. Treatment can consist of blood transfusions and iron chelation therapy. […] Standard treatments for thalassemia major are blood transfusions and iron chelation. […] A blood transfusion involves receiving injections of red blood cells through a vein to restore normal levels of healthy red blood cells and hemoglobin. […] Iron chelation involves the removal of excess iron from your body. […] Folic acid supplements can help your body make healthy blood cells. […] Bone marrow and stem cell transplant from a compatible related donor is the only treatment to cure thalassemia. […] Luspatercept is an injection that’s given every three weeks and can help your body make more red blood cells. It’s approved in the U.S. for the treatment of transfusion-dependent beta thalassemia. […] You should expect a normal life expectancy if you have mild thalassemia. Even if your condition is moderate or severe, you have a good chance of long-term survival if you follow your treatment program (transfusions and iron chelation therapy).

• #24 Beta-Thalassemia: A Pharmacological Drug-Based Treatment

  https://www.mdpi.com/2813-2998/3/1/8

  The two options here are drug therapy and gene therapy. Treatment with thalassemia blood transfusions throughout the lifespan results in iron overload, which requires management over a long period with iron chelation therapy. In this context, drug therapy aims to enhance Hb levels and decrease blood transfusion problems, with various options available including hydroxyurea (HU), sotatercept, luspatercept, quercetin, thalidomide, decitabine, and rapamycin. […] In this review, details of drugs that can replace blood transfusion in thalassemia are provided. We focus on discussing seven promising drugs: luspatercept, sotatercept, mitapivat, etavopivat, HU, rapamycin, decitabine, thalidomide, and quercetin. […] Luspatercept enhances erythroid maturation and reduces the transfusion burden by attaching to transforming growth factor β superfamily ligands. […] Sotatercept is a ligand trap that prohibits TGF-β superfamily members, including ActRB and GDF-11. […] Mitapivat has been demonstrated to dramatically upregulate erythrocyte pyruvate kinase (PKR), both in the wild-type and in a variety of mutant forms. […] Hydroxyurea (HU) is a drug capable of producing fetal Hb. […] Decitabine is a chemotherapy drug that reduces the growth of cancer cells. […] Thalidomide is classified as an immunomodulatory drug, and it has been used to produce HbF in the treatment of thalassemia intermedia. […] Quercetin induces hypoxia-inducible factor expression, which regulates transcription of the erythropoietin gene.

• #25 Thalassemia: Symptoms, Causes, & Treatment

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

  Hydroxyurea, a chemotherapy drug that might be used off-label to treat thalassemia. It stimulates your body to produce fetal hemoglobin (HbF), which you usually stop making after birth. The HbF helps make up for a lack of adult hemoglobin. […] Luspatercept (Reblozyl), which fights anemia by helping your body produce more red blood cells. Your doctor may prescribe if if you have beta thalassemia that requires regular transfusions. […] Supplements. Your doctor might recommend folic acid supplements to help your body produce healthy red blood cells.

• #26 Thalassemia – Causes, Symptoms, and Treatments | MedPark Hospital

  https://www.medparkhospital.com/en-US/disease-and-treatment/thalassemia

  Iron chelation: Regular blood transfusions can lead to iron overload, harming organs. Iron chelation therapy involves using medications to remove excess iron and prevent organ damage. […] Folic acid supplements: Folic acid helps stimulate the production of new, healthy cells, including red blood cells. […] Splenectomy: In severe cases, surgical removal of the spleen (splenectomy) may be beneficial if the spleen is enlarged or causes complications such as severe anemia or low blood cell counts. The doctor will administer an infection-prevention vaccine at least two weeks before the surgery. […] Bone marrow transplants and stem cell transplantation: These procedures are currently the only known curative treatments for thalassemia, particularly in young children. They involve replacing defective bone marrow stem cells with healthy umbilical cord blood stem cells to promote the production of normal blood cells.

• #27 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. […] If you have a mild form of thalassemia called thalassemia trait, you do not need any specific treatment. But with more-serious forms, you might need regular blood transfusions. Those are treatments in which you receive blood from a donor. […] Sometimes, a child born with this condition can be treated with blood transfusions and a stem cell transplant. […] If you inherit two genes with changes, your symptoms typically will be moderate to severe. This condition is called transfusion-dependent beta-thalassemia or thalassemia major. […] An enlarged spleen can make anemia worse. It also can reduce the life of red blood cells received in a transfusion. If your spleen grows too big, your health care professional might recommend surgery to remove it.

• #28 Treatment of Thalassemias | Hematology-Oncology Associates of CNY

  https://www.hoacny.com/patient-resources/blood-disorders/what-thalassemias/other-names-thalassemias/treatment-thalassemias

  Treatments for thalassemias depend on the type and severity of the disorder. Doctors use three standard treatments for moderate and severe forms of thalassemia. These treatments include blood transfusions, iron chelation therapy, and folic acid supplements. Transfusions of red blood cells are the main treatment for people who have moderate or severe thalassemias. Blood transfusions allow you to feel better, enjoy normal activities, and live into adulthood. This treatment is lifesaving, but it’s expensive and carries a risk of transmitting infections and viruses. To prevent damage from iron overload, doctors use iron chelation therapy to remove excess iron from the body. Folic acid is a B vitamin that helps build healthy red blood cells. A blood and marrow stem cell transplant replaces faulty stem cells with healthy ones from another person. A stem cell transplant is the only treatment that can cure thalassemia. Researchers are working to find new treatments for thalassemias. An important part of managing thalassemias is treating complications. […] Other treatments for thalassemias have been developed or are being tested, but they’re used much less often.

• #29 Thalassemia | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/30014

  Cholecystectomy: Patients can develop cholelithiasis due to increased Hb breakdown and bilirubin deposition in the gallbladder. […] Diet and exercise: Reports exist that drinking tea aids in reducing iron absorption from the intestinal tract. So, in thalassemia patients tea might be a healthy drink to use routinely.

• #30 Thalassemia Treatment | Northern California Comprehensive Thalassemia Center

  https://thalassemia.ucsf.edu/treatment

  All patients should undergo at least an annual comprehensive assessment at a thalassemia center. During such an assessment, recommendations are summarized after consultation with multiple specialists and communicated directly to the primary provider and family. […] A specialty center manages the regular care of at least 20 patients. A specialty program includes a team of thalassemia experts working closely together. This team includes a hematologist, a nurse specialist, a hepatologist, a cardiologist, an endocrinologist, a psychologist, a genetics counselor, a social worker, and a dietitian. […] Please click on standards of care under the Treatment section, or follow this link for more information on the Thalassemia Treatment Guidelines. […] Guidelines for Managing Transfusion Therapy for Thalassemia. Transfusion Management of Beta Thalassemia in the U.S. Monitoring of Iron Overload in Transfusion-Dependent Thalassemia (TDT). Guidelines for the Management of Non-Transfusion-Dependent Thalassemia (NTDT). Monitoring Deferasirox Therapy. Standard of Care Guidelines Manual for Thalassemia (2012).

• #30 Thalassemia Treatment | Northern California Comprehensive Thalassemia Center

  https://thalassemia.ucsf.edu/treatment

  Treatment for thalassemia has dramatically improved. Patients should live full lives with careers and children of their own. Unfortunately, many patients die prematurely or develop morbid preventable complications. Outcomes are far better for patients whose care is coordinated by thalassemia centers. The majority of patients are managed in small programs which may not have access to recommended monitoring and treatments. Therefore, an established network of care between thalassemia centers, local providers, and patients is required for optimal treatment of thalassemia patients in North America. […] Each component of this network should follow the Standards of Care Guidelines and communicate frequently. A group of providers first developed and finalized the first set of guidelines in 2000, with the goal of standardizing the management of care for thalassemia patients throughout the State of California. Since then, significant changes in technology and treatment have required updating of the guidelines.

• #31 Psychological therapies for thalassaemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7138048/

  Thalassaemia is a group of genetic blood disorders characterised by the absence or reduction in the production of haemoglobin. […] Blood transfusion is required to treat severe forms of thalassaemia, but this results in excessive accumulation of iron in the body (iron overload), removed mostly by a drug called desferrioxamine through 'chelation therapy’. […] In addition, psychological therapies seem appropriate to improving outcome and adherence to medical treatment. […] Psychological support would seem suitable to manage thalassaemia which is a chronic disease with a considerable role for selfmanagement. […] However, from the information currently available, no conclusions can be made about the use of specific psychological therapies in thalassaemia. […] This systematic review has clearly identified the need for welldesigned, adequatelypowered, multicentre, randomised controlled trials assessing the effectiveness of specific psychological interventions for thalassaemia.

• #31 Psychological therapies for thalassaemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC7138048/

  The object of psychological therapies are to help people with thalassaemia cope better, fulfil roles, and to achieve better quality of life. […] Psychological therapies for managing thalassaemia include patient education, cognitive therapy, behavioural therapy and psychodynamic psychotherapy. […] Psychological interventions, if effective, will lead to acquisition or improvement of effective coping strategies to alleviate symptoms and emotional difficulties. […] We cannot, at this time, draw any conclusions on the efficacy of psychological therapies for people with thalassaemia to help them adjust and manage their condition. […] No conclusions can be drawn at the present time about the effectiveness of psychological therapies for managing thalassaemia. […] Research is needed using a structured approach to the assessment of psychological therapies for thalassaemia, which take into account both demographic and clinical variables.

• #32 Importance of Monitoring in Thalassemia Care | Rethink Thalassemia HCP

  https://www.rethinkthalassemia.com/hcp/management

  Thalassaemia International Federation guidelines recommend frequent monitoring of patients with thalassemia to identify and manage the development of morbidities and assess QOL. […] Leading thalassemia specialists recommend assessing quality of life as part of a long-term management plan for all patients with thalassemia. […] With no medications available for all thalassemia patients that address both ineffective erythropoiesis and chronic hemolysis, regular monitoring is critical to identify and manage the development of morbidities.

• #33

  https://journals.lww.com/md-journal/fulltext/2024/05030/__thalassemia_gene_editing_therapy__advancements.9.aspx

  This article will introduce 3 types of nucleases used for gene editing: CRISPR/Cas9, TALENs, and ZFNs. […] For -thalassemia patients, gene therapy methods are proposed mainly to correct the -pearl protein deficiency. […] Gene therapy is based on gene editing techniques, which entail replacing abnormal genes with functionally expressed genes. […] Targeted gene correction of HSPC mutated genes resulted in long-term stable expression of the target genes in the repaired HSPC and its subcellular populations, ensuring higher safety and endogenous expression of the target genes. […] The main purpose of gene editing is to reduce the production of ineffective red blood cells, decrease extramedullary hematopoiesis, enhance editing efficiency, and mitigate adverse consequences arising from base insertions.

• #34 Vertex Pharmaceuticals | R&D Pipeline | Beta Thalassemia

  https://www.vrtx.com/our-science/pipeline/beta-thalassemia/

  We advanced the first-ever CRISPR/Cas9 gene-edited therapy into the clinic in 2018, and this treatment is now approved in multiple countries for eligible people living with TDT. This autologous, ex vivo therapy uses CRISPR/Cas9 gene-editing technology. […] We are working to discover and develop conditioning regimens aimed at improving the hematopoietic stem cell transplant process, which is required for gene therapies. […] We have internal research programs exploring both in vivo gene editing approaches and small molecule treatment options targeting BCL11A for people living with TDT. […] We’re investigating multiple approaches to develop an additional conditioning regimen for people living with transfusion-dependent beta thalassemia. […] We’re researching in vivo gene editing approaches to target the underlying cause of transfusion-dependent beta thalassemia. […] We’re investigating small molecule medicines to target the underlying cause of transfusion-dependent beta thalassemia.

• #35 Beta Thalassemia: New Developments in Treatment – The Waiting Room

  https://thewaitingroom.karger.com/tell-me-about/beta-thalassemia-new-developments-in-treatment/

  Several trials of gene therapy have been carried out in people with transfusion-dependent BT and other trials are continuing. A gene therapy was approved in 2022 in the US for people with transfusion-dependent BT. […] Clinical trials are looking into treating anemia with medication to improve the health, function and survival of red blood cells. In BT, it may mean you dont need transfusions so often. […] Mitapivat is a new treatment that is being tested in people with alpha thalassemia or BT. […] Early trial results show that mitapivat may help to reduce anemia in people with BT who dont need regular blood transfusions. […] Researchers have identified a natural body hormone called hepcidin that reduces the absorption of iron from the digestive system and helps regulate iron levels in the body. Early trials used drugs that mimic hepcidin. These showed positive effects on iron levels in BT and also on red blood cell production.

• #36 Beta thalassaemia therapies – List and explanations

  https://www.findyourbetathalpath.de/en/treating-beta-thalassaemia

  Treating beta thalassaemia […] The therapies used for beta thalassaemia depend on many individual factors. Based on your needs and wishes, your treatment team will put together the best possible treatment for you. It is important to note that there are always several paths to a goal and that there is no one-size-fits-all treatment for beta thalassaemia. Optimum treatment depends on your individual symptoms and circumstances. Do you have questions about your treatment? Talk to your doctor. If you are looking for a beta thalassaemia specialist, a patient organisation can help you to find doctors near you. […] The following are possible ways to treat beta thalassaemia, either alone or in combination: […] People with transfusion-dependent beta thalassaemia (beta thalassaemia major) need regular blood transfusions, while people with non-transfusion-dependent beta thalassaemia (beta thalassaemia intermedia) can have blood transfusions more infrequently, at irregular intervals or even on an as-needed basis. The aim of these blood transfusions is to provide an effective and reliable supply of enough red blood cells and to minimise the burden of beta thalassaemia on patients in their everyday lives.

• #37 Beta Thalassemia Treatment Market Outlook, Emerging Drugs, Companies

  https://www.delveinsight.com/blog/beta-thalassemia-treatment-market-insights-challenges-and-solutions

  Patients with transfusion-dependent Thalassemia must be managed with blood transfusions and iron chelation therapy for the rest of their lives. Iron overload complications can result in severe morbidity and mortality, and it is widely established that the chronic management of this disease places a significant financial and time burden on patients. […] The futuristic approach for Beta Thalassemia treatment will depend on the increased availability of iron chelation, -globin induction, blood transfusion, allogeneic bone marrow transplantation, and gene therapy for Beta Thalassemia in developed as well as more in the under-developed and low-income countries. The next few years will be very critical for the rise of Beta Thalassemia treatment measures to be adopted, with enormous potential of gene transfer methods for Beta Thalassemia patients, in regard to both the safety and efficacy determinants.

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