Materiały źródłowe

• #1 Sickle Cell Disease (SCD) Differential Diagnoses

  https://emedicine.medscape.com/article/205926-differential

  Sickle cell disease (SCD) is suggested by the typical clinical picture of chronic hemolytic anemia and vaso-occlusive crisis. The diagnosis is confirmed when electrophoresis demonstrates the presence of homozygous hemoglobin S (HbS). […] The diagnosis of HbSC disease is made with Hb electrophoresis. The peripheral blood smear may have some sickled cells and a high proportion of target cells. In addition, microcytic, dehydrated, dense RBCs are seen. These may contain crystal-like condensations. Treatment and management strategies are similar to those employed in Hb S disease. […] In HbSbeta 0 thalassemia, only HbS is found on electrophoresis. HbA2 is elevated and splenomegaly usually is present. The clinical picture is similar to SCD but is slightly less severe. Management is similar to that for SCD.

• #1 Sickle cell anemia – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/diagnosis-treatment/drc-20355882

  A blood test can check for the form of hemoglobin that underlies sickle cell anemia. In the United States, this blood test is part of routine newborn screening. But older children and adults can get the test too. […] In adults, a blood sample is taken from a vein in the arm. In young children and babies, the blood sample is usually collected from a finger or heel. The sample then goes to a laboratory to be screened for the sickle cell form of hemoglobin. […] If you or your child has sickle cell anemia, your healthcare professional might suggest other tests to check for possible complications of the disease. […] If you or your child carries the sickle cell gene, you’ll likely be referred to a genetic counselor. […] Sickle cell disease can be diagnosed in an unborn baby by sampling some of the amniotic fluid surrounding the baby in the womb. If you or your partner has sickle cell anemia or the sickle cell trait, ask your healthcare team about this screening. […] Sickle cell anemia is usually diagnosed through genetic screening done when a baby is born. Those test results will likely be given to your primary healthcare professional, who may refer you to a doctor who specializes in blood disorders, called a hematologist, or a pediatric hematologist.

• #1 Sickle Cell Disease – Diagnosis | NHLBI, NIH

  https://www.nhlbi.nih.gov/health/sickle-cell-disease/diagnosis

  If you or your child has symptoms of sickle cell disease, your healthcare provider may use a number of tests to diagnose the condition. If your childs initial newborn screening results show they may have sickle cell disease or trait, further testing can confirm the diagnosis. […] Blood tests can determine if your body makes the hemoglobin S protein and how much. Genetic testing can tell if you have one or two copies of the sickle cell gene. […] Healthcare providers can also diagnose sickle cell disease before a baby is born. […] Testing before birth can be done as early as 8 to 10 weeks into the pregnancy. […] In newborn screening programs, healthcare providers prick the heel of the newborn and collect drops of blood on a special card. These are used to test for a variety of treatable conditions, including sickle cell disease.

• #1 Sickle Cell Disease (SCD) Workup: Approach Considerations, Baseline Blood Study Abnormalities, Suggested Routine Clinical Laboratory Evaluations

  https://emedicine.medscape.com/article/205926-workup

  Meningitis in children with SCD requires early recognition; aggressive diagnostic evaluation including complete blood cell count (CBC), urinalysis, chest radiographs, and blood cultures; prompt administration of intravenous antibiotics active against Streptococcus pneumoniae; and close observation. […] In acute chest syndrome, arterial blood oxygen saturation commonly falls to a greater degree than that seen in simple pneumonia of the same magnitude. Patients with acute chest syndrome often have progressive pulmonary infiltrates despite treatment with antibiotics. Infection may set off a wave of local ischemia that produces focal sickling, deoxygenation, and additional sickling. […] The introduction of newborn screening has been one of the greatest advances in the management of SCD. Currently, 50 states and the District of Columbia have mandatory universal programs for newborn screening for hemoglobin disorders. The United States Health Resources Services Administration includes SCD as a core condition on its Recommended Uniform Screening Panel for newborns, along with sickle hemoglobin/hemoglobin C (HbSC) disease (a milder sickling disorder; see DDx/Diagnostic Considerations) and HbS/beta thalassemia. If results are positive, a repeat hemoglobin electrophoresis should be performed for confirmation.

• #1 Sickle Cell Disease (SCD) Workup: Approach Considerations, Baseline Blood Study Abnormalities, Suggested Routine Clinical Laboratory Evaluations

  https://emedicine.medscape.com/article/205926-workup

  Screening for hemoglobin S (HbS) at birth is currently mandatory in the United States. This allows institution of early treatment and control of sickle cell disease (SCD). […] Prenatal diagnosis is also available. Prenatal testing must be accompanied with genetic and psychological counseling. Chorionic villus sampling can be performed at 8-12 weeks’ gestation to obtain DNA. This procedure is low risk and sensitive. DNA from amniotic fluid cells can be examined at 16 weeks’ gestation. Investigational attempts are ongoing to isolate cell-free fetal DNA from maternal blood for prenatal diagnosis. […] Children with SCD frequently have abnormal pulmonary function test (PFT) results. PFTs should be performed regularly in children with a history of recurrent acute chest episodes or low oxygen saturation. Because lung function declines with age, it is important to identify those who require close monitoring and treatment.

• #1 Screening for sickle cell and thalassaemia – NHS

  https://www.nhs.uk/pregnancy/your-pregnancy-care/screening-for-sickle-cell-and-thalassaemia/

  If the screening test finds that you’re a carrier of a haemoglobin disease, your baby’s father will also be offered a blood test. […] If tests show the father is not a carrier, your baby will not have sickle cell disease or thalassaemia and you will not be offered further tests in pregnancy. […] If tests show your baby’s father is also a carrier, there’s a 1 in 4 chance that your baby can have the disease. […] You’ll be offered further tests called diagnostic tests to find out if your baby is affected. […] A diagnostic test will tell you: if your baby has sickle cell disease, thalassaemia or another haemoglobin disorder. […] If the result shows your baby has sickle cell disease or thalassaemia, you’ll be offered an appointment with a health professional. […] If you’re faced with this choice, you’ll get professional support to help you make a decision.

• #1 Techniques for the Detection of Sickle Cell Disease: A Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8148117/

  The complete blood count (CBC) is a primary test to characterize the different types of anemia. […] The peripheral blood smear (PBF) is usually done after spotting abnormality in the automation counts and is considered a landmark of any hematological evaluation. […] Sickling tests are mainly based on the polymerization of HbS in the deoxygenated state. […] Electrophoresis is a type of chromatography techniques, and it is considered as one of the important tests used to detect Hb variants. […] HPLC is documented to separate the hemoglobin fractions as they have different interaction with the stationary phase. […] The genetic study is important for the precise detection of the various types of sickle cell disease, based on the detection of -globin mutations that lead to sickle cell disease development. […] The pyrosequencing technique (PyS) has been used to identify different types of homozygous or heterozygous SCD. This test aims to sequence hemoglobin of a small number of patients accurately to differentiate between SS and S0 thalassemia and detect HbC mutations.

• #1 Sickle cell disease – Wikipedia

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

  Sickle cell disease occurs when a person inherits two abnormal copies of the -globin gene that makes haemoglobin, one from each parent. […] Diagnosis is by a blood test, and some countries test all babies at birth for the disease. […] Diagnosis is also possible during pregnancy. […] Where SCD is suspected, a number of tests can be used. Often a simpler, cheaper test is applied first with a more complex test such as DNA analysis used to confirm a positive result. […] A blood smear is a thin layer of blood smeared on a glass microscope slide and then stained in such a way as to allow the various blood cells to be examined microscopically. This technique can be used to visually detect sickled cells, however it does not detect sickle carriers. […] A solubility test relies on the fact that HbS is less soluble than normal hemoglobin (HbA); it is highly reliable but does not distinguish between full SCD and carrier status.

• #1 Sickle Cell Screening in Adults: A Current Review of Point-of-Care Testing | Mendez-Marti | Journal of Hematology

  https://thejh.org/index.php/jh/article/view/1272/816

  In adults, the sickle cell solubility test (SCST) is the most common screening test to determine the presence of hemoglobin S (HbS) within a blood sample. The assay is inexpensive, rapid, highly sensitive and specific. However, the SCST cannot accurately quantify the level of HbS in a test sample and requires confirmatory testing to distinguish between sickle trait and sickle cell disease. […] The SCST has been reported to be highly sensitive (98.9%) and specific (100%) for detection of HbS. Conversely, in an African study of 200 patients between the age of 6 months and 5 years, the SCST was reported to be 45% sensitive (95% confidence interval (CI): 25.8 – 65.8) and 90% specific (95% CI: 84.8 – 93.6) when compared with concurrent hemoglobin electrophoresis (HE). […] As the SCST is a qualitative test, it cannot distinguish between SCT and sickle cell anemia, nor does it quantify the degree of HbS. Given these limitations, the sickle solubility test is not used for newborn screening programs as the dilutional effect of HbF can persist up to 6 months and this would predictably be associated with false negative results.

• #1 Sickle Cell Screen | Quest Diagnostics

  https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/faq99v1

  No. People with sickle cell anemia (Hgb S/S) have the hemoglobin S gene mutation on both of their beta globin genes, whereas people with sickle cell trait (Hgb A/S) have the mutation on only one beta globin gene. […] Sickle cell disease refers to any condition that causes a sickling disorder. Sickle cell anemia is one type of sickle cell disease. It is caused by the presence of a Hgb S on both beta globin genes. […] The sickle cell solubility test is a qualitative test based on the relative insolubility of hemoglobin S compared to other hemoglobin variants. […] A positive test is consistent with sickle cell trait, sickle cell anemia and hemoglobin S in combination with another hemoglobin variant, e.g. hemoglobin C-Harlem. […] False-negative results can be obtained if there has been a recent transfusion, if the percentage of hemoglobin S is below 15% to 20%, if the concentration of fetal hemoglobin (Hgb F) is high and if there is severe anemia with the total hemoglobin 8 g/dL. […] This test does not differentiate sickle cell trait from sickle cell anemia nor is it intended as a screen for other significant hemoglobin variants that combine with hemoglobin S, e.g. hemoglobin C and hemoglobin D.

• #1 Sickle cell disease – Wikipedia

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

  Hemoglobin electrophoresis is a test that can detect different types of hemoglobin. Hemoglobin is extracted from the red cells, then introduced into a porous gel and subjected to an electrical field. This separates the normal and abnormal types of hemoglobin which can then be identified and quantified. […] Isoelectric focusing (IEF) is a technique that can be used to diagnose sickle cell disease and other hemoglobinopathies. The technique separates molecules based on their isoelectric point, or the pH at which they have no net electrical charge. IEF uses an electric charge to separate and identify different types of hemoglobin, which become focused into sharp stationary bands. The technique can distinguish many types of abnormal hemoglobin. […] High-performance liquid chromatography (HPLC) is reliable, fully automated, and able to distinguish most types of sickle cell disease including heterozygous. The method separates and quantifies hemoglobin fractions by measuring their rate of flow through a column of absorbent material.

• #1 Sickle Cell Disease – Hematology and Oncology – Merck Manual Professional Edition

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

  Sickle cell anemia is caused by homozygous inheritance of genes for hemoglobin (Hb) S or Hb S beta 0 thalassemia. […] Diagnosis requires hemoglobin electrophoresis. […] The type of testing done depends on the age of the patient. DNA testing can be used for prenatal diagnosis or to confirm a diagnosis of the sickle cell genotype. […] Screening of neonates involves hemoglobin electrophoresis. Screening and diagnosis in children and adults involve examination of the peripheral smear, hemoglobin solubility testing, and hemoglobin electrophoresis. […] Patients with a family history of sickle cell disease or trait should be screened with peripheral smear, hemoglobin (Hb) solubility testing, and hemoglobin electrophoresis. […] The homozygous state is differentiated from other hemoglobinopathies by electrophoresis showing only Hb S with a variable amount of Hb F. The heterozygous state is differentiated by the presence of more Hb A than Hb S on electrophoresis. […] Unexplained hematuria, even among patients not suspected of having sickle cell disease, should prompt consideration of sickle cell trait.

• #1 Techniques for the Detection of Sickle Cell Disease: A Review

  https://www.mdpi.com/2072-666X/12/5/519

  Sickle cell disease (SCD) is a widespread disease caused by a mutation in the beta-globin gene that leads to the production of abnormal hemoglobin called hemoglobin S. […] Early detection of SCD can help to reduce the mortality and manage the disease effectively. Therefore, different techniques have been developed to detect the sickle cell disease and the carrier states with high sensitivity and specificity. […] Detection of hemoglobin S and diagnosis of sickle cell disease depend mainly on the clinical laboratory, where a combination of biochemical and molecular tests is used in the detection and confirmation of the diagnosis. […] The most popular methods for detecting these diseases are the full count of blood cells, Hb electrophoresis, and high-performance liquid chromatography (HPLC). These methods are considered the gold standard in the diagnosis of SCD.

• #1 Sickle Cell Disease in Childhood: Part I. Laboratory Diagnosis, Pathophysiology and Health Maintenance | AAFP

  https://www.aafp.org/pubs/afp/issues/2000/0901/p1013.html

  Over the past 25 years, morbidity and mortality have decreased significantly in children with sickle cell disease, and screening tests are now available to diagnose the disease in newborns. […] Sickle cell disease can be diagnosed in newborns, as well as older persons, by hemoglobin electrophoresis, isoelectric focusing, high-performance liquid chromatography or DNA analysis. […] In 41 states and the District of Columbia, newborns are now screened for sickle cell disorders. […] A consensus development conference subsequently recommended universal nontargeted newborn screening to ensure that children with sickle cell disease were entered into a comprehensive system of care and received timely prophylactic penicillin. […] If both parents are accessible, studies of parental blood can aid in the diagnosis of sickle cell disease in the child. […] DNA analysis provides the most accurate diagnosis in patients of any age, but it is still relatively expensive.

• #1 Sickle cell disease – Wikipedia

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

  DNA analysis using polymerase chain reaction (PCR), to amplify small samples of DNA. Variants of PCR used to diagnose SCD include Amplification-refractory mutation system (ARMS) and Allele-Specific Recombinase Polymerase Amplification. These tests can identify subtypes of SCD as well as combination hemoglobinopathies.

• #1 Sickle Cell Disease (SCD) Workup: Approach Considerations, Baseline Blood Study Abnormalities, Suggested Routine Clinical Laboratory Evaluations

  https://emedicine.medscape.com/article/205926-workup

  Fetal hemoglobin (HbF) is predominant in young infants. If eletrophoresis results show only HbF and HbS, the child has either SCD or HbS-0 thalassemia. If results show HbF, HbS, and HbC, the child has HbSC disease. If results show HbF, HbS, and adult hemoglobin (HbA), determine whether the child has received a transfusion. If the child has not received a transfusion and HbS is greater than HbA, HbSbeta+ thalassemia is most likely the diagnosis. If HbA is greater than HbS, the child is presumed to have the sickle trait. If HbA and HbS concentrations are close, conduct a study of the parents to determine if one of them has the thalassemia trait. Repeat Hb electrophoresis on the child after several months. […] In children with normocytic hemolytic anemia, if results of electrophoresis show only HbS with an HbF concentration of less than 30%, the diagnosis is sickle cell anemia. If HbS and HbC are present in roughly equal amounts, the diagnosis is HbSC disease.

• #1 Sickle Cell Disease (SCD) Differential Diagnoses

  https://emedicine.medscape.com/article/205926-differential

  Sickle cell trait is the heterozygous carrier state of HbS. These individuals have approximately 40% HbS and 60% HbA, less so with coexisting alpha-thalassemia trait. […] Nevertheless, providing genetic counseling to prospective parents with sickle cell trait is important. […] HbS variants may occur as double heterozygotes with other Hb variants. These include HbD, HbE, and HbO Arab. These are observed very infrequently in the United States, and information about them can be found in hematology texts.

• #1 Diagnosing Sickle Cell Disease | NYU Langone Health

  https://nyulangone.org/conditions/sickle-cell-disease-in-children/diagnosis

  Specialists at Hassenfeld Childrens Hospital at NYU Langone have extensive experience in diagnosing and treating sickle cell disease. Early diagnosis of this condition is essential to beginning the treatments that can reduce the risk of life-threatening complications, such as severe infections and strokes. […] A second blood test is needed to confirm a diagnosis of sickle cell disease in babies with a positive newborn screening test result. […] After a blood test confirms sickle cell disease, your childs doctor performs a physical examination to look for common signs of the condition. […] Imaging tests are not used to diagnose sickle cell disease, but they play an important role in determining a childs risk of stroke, lung problems, and bone and joint abnormalities caused by the condition.

• #1 Diagnosing Sickle Cell Disease | NYU Langone Health

  https://nyulangone.org/conditions/sickle-cell-disease-in-children/diagnosis

  A transcranial Doppler ultrasound may be used to see how blood flows through the arteries in the head and neck, which can determine your childs risk of stroke. […] Chest X-rays use high-energy beams of light to take a snapshot of the lungs in children with sickle cell disease who have symptoms such as chest pain, shortness of breath, or cough. X-rays can be used to diagnose acute chest syndrome. […] If your child has an enlarged or very painful abdomen, ultrasound may be used to look for other common complications, such as an enlarged spleen or gallstones.

• #1 Sickle Cell Disease (SCD) Workup: Approach Considerations, Baseline Blood Study Abnormalities, Suggested Routine Clinical Laboratory Evaluations

  https://emedicine.medscape.com/article/205926-workup

  Noninvasive techniques can be used to identify asymptomatic brain disease in children with SCD. Transcranial near-infrared spectroscopy or cerebral oximetry is increasingly being used to screen for low cerebral venous oxygen saturation in these patients. […] Measurement of cerebral blood flow velocity by transcranial Doppler ultrasound (TCD) has proved a good predictor of stroke risk. Although overall, children with SCD have a stroke risk of 1% per year, those with high cerebral blood flow velocities (time-averaged mean velocity 200 cm/s) have stroke rates of greater than 10% a year. TCD surveillance remains the gold standard for stroke risk prediction in children with TCD; annual TCD screening from 2 to 16 years of age has been recommended. […] Consider lumbar puncture to exclude meningitis if the patient has altered mental status, meningeal signs, or fever. When focal neurologic signs are present or intracranial hemorrhage is suspected, consider computed tomography (CT) prior to lumbar puncture. Consider lumbar puncture if a subarachnoid hemorrhage is suspected and head CT is unrevealing.

• #1 Advances in the diagnosis and treatment of sickle cell disease | Journal of Hematology & Oncology | Full Text

  https://jhoonline.biomedcentral.com/articles/10.1186/s13045-022-01237-z

  PFT, which includes spirometry and measurement of lung volumes and diffusion capacity, is standard for diagnosing obstructive and restrictive lung disease in patients with SCD. […] Overt stroke is diagnosed by evidence of acute infarct on brain MRI diffusion-weighted imaging and focal deficit on neurologic exam. […] The diagnosis of sickle cell nephropathy is made by detecting abnormalities such as albuminuria, hematuria or CKD rather than by distinct diagnostic criteria in SCD, which have not been developed. […] Annual screening for urine microalbumin/protein is recommended beginning at age 10 years.

• #1 Screening for sickle cell and thalassaemia – NHS

  https://www.nhs.uk/pregnancy/your-pregnancy-care/screening-for-sickle-cell-and-thalassaemia/

  Sickle cell disease (SCD) and thalassaemia are inherited blood disorders. […] Those at high risk of being a sickle cell carrier are offered a test for sickle cell. […] This test should be offered before you’re 10 weeks pregnant. It’s important the test is done early. […] Screening is offered to find out if you’re a carrier of a gene for sickle cell or thalassaemia and therefore likely to pass it on to your baby. […] People only have sickle cell disease or thalassaemia if they inherit 2 unusual haemoglobin genes: 1 from their mother and 1 from their father. […] Sickle cell carriers can experience some problems in situations where their bodies might not get enough oxygen, such as having a general anaesthetic. […] All carriers can pass the unusual gene on to their children. […] Screening for sickle cell and thalassaemia involves a blood test. It’s best to have the test before you’re 10 weeks pregnant.

• #1 Sickle Cell Tests – Testing.com

  https://www.testing.com/tests/sickle-cell-tests/

  A full diagnostic evaluation should be done following positive screening results. […] If two copies of the Hb S gene mutation are detected, then the person has sickle cell disease. If the person has one gene that codes for Hb S and one normal gene, then the person has sickle cell trait. […] Recent blood transfusions, typically within the last three months of the date of testing, may cause a false-negative test result with some of the tests (e.g., Hb S solubility tests) because transfusion of normal RBCs reduce the relative amount of hemoglobin S present in an affected person’s system.

• #1 Sickle Cell Test, Detects the Presence of Hemoglobin “S” Which is Responsible for Sickle Cell Anemia

  https://hardydiagnostics.com/200100asi

  Sickle Cell Test, Detects the Presence of Hemoglobin “S” Which is Responsible for Sickle Cell Anemia […] Intended to be used as an aid in the qualitative detection of hemoglobin S in anticoagulated whole blood. The test does not distinguish between sickle cell disease and sickle cell trait. […] This test is not recommended for use on newborns under 3 months of age. […] Sensitivity: >99% […] Specificity: >99%

• #1 Perspective Chapter: Recent Developments in the Diagnosis of Sickle Cell Disease | IntechOpen

  https://www.intechopen.com/online-first/1203126

  However, disparities in screening practices, particularly in nations where testing is optional, can result in missed diagnoses of SCD, compounded by the time-intensive nature of these methodologies and potential lapses in communication with parents. […] Solubility testing functions as a qualitative screening method for detecting HbS in capillary blood from individuals as young as 6 months; nevertheless, it is unable to distinguish between SCD and sickle cell trait and may present false negatives in patients with -thalassemia trait and severe anemia, as well as false positives in cases of increased serum viscosity, erythrocytosis, and leukocytosis. […] Emerging POC testing technologies, characterized by their accessibility, affordability, swift processing, and precision, are essential for ensuring effective communication of results to families and facilitating follow-up care for SCD patients, especially in at-risk communities.

• #1 About Sickle Cell Disease | Sickle Cell Disease (SCD) | CDC

  https://www.cdc.gov/sickle-cell/about/index.html

  In the United States, SCD is often found at birth through routine newborn screening. […] SCD is diagnosed with a simple blood test. In children born in the United States, it most often is found at birth during routine newborn screening tests at the hospital. […] SCD can be diagnosed while the baby is in the womb. Diagnostic tests before the baby is born, such as chorionic villus sampling and amniocentesis, can check for chromosomal or genetic abnormalities in the baby. […] Because children with SCD are at an increased risk of infection and other health problems, early diagnosis and treatment are important.

• #1 Sickle Cell Anemia: Symptoms, Causes & Treatment

  https://my.clevelandclinic.org/health/diseases/4579-sickle-cell-anemia

  This procedure is the only cure for sickle cell anemia. […] Sickle cell anemia is an inherited disorder that you cant prevent. […] You can have a blood test to find out if you have the genetic change that causes sickle cell anemia. […] Starting in 2006, all babies born in the U.S. have sickle cell anemia tests right after theyre born. […] Early diagnosis and treatment are why fewer babies and young children born in the United States die of sickle cell anemia. […] For most people, sickle cell anemia is a chronic illness. […] Sickle cell anemia symptoms can be mild, moderate or so severe that theyre life-threatening. […] Thanks to early diagnosis and treatment to ease complications, people with sickle cell anemia may live into their 50s.

• #1 Sickle cell anemia: How it is diagnosed and test results

  https://www.medicalnewstoday.com/articles/how-is-sickle-cell-anemia-diagnosed

  Doctors may carry out blood tests, prenatal screenings, and various other tests to assess a persons symptoms and diagnose sickle cell anemia. […] Timely diagnosis is crucial for effective management and to prevent serious complications associated with the disease. […] Diagnosing sickle cell anemia typically begins with a thorough medical history review and physical exam. Healthcare professionals will usually ask a person about their symptoms to look for signs of disease. […] Blood tests play a crucial role in confirming the diagnosis of sickle cell anemia. […] Doctors usually detect sickle cell anemia during pregnancy or soon after birth. Prenatal screening tests can identify the presence of sickle cell trait or sickle cell disease during pregnancy. […] Genetic testing is common for diagnosing sickle cell anemia.

• #1 Techniques for the Detection of Sickle Cell Disease: A Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8148117/

  Sickle cell disease (SCD) is a widespread disease caused by a mutation in the beta-globin gene that leads to the production of abnormal hemoglobin called hemoglobin S. […] Early detection of SCD can help to reduce the mortality and manage the disease effectively. Therefore, different techniques have been developed to detect the sickle cell disease and the carrier states with high sensitivity and specificity. […] Detection of hemoglobin S and diagnosis of sickle cell disease depend mainly on the clinical laboratory, where a combination of biochemical and molecular tests is used in the detection and confirmation of the diagnosis. […] The most popular methods for detecting these diseases are the full count of blood cells, Hb electrophoresis, and high-performance liquid chromatography (HPLC). These methods are considered the gold standard in the diagnosis of SCD.

• #2 Techniques for the Detection of Sickle Cell Disease: A Review

  https://www.mdpi.com/2072-666X/12/5/519

  Sickle cell disease (SCD) is a widespread disease caused by a mutation in the beta-globin gene that leads to the production of abnormal hemoglobin called hemoglobin S. […] Early detection of SCD can help to reduce the mortality and manage the disease effectively. Therefore, different techniques have been developed to detect the sickle cell disease and the carrier states with high sensitivity and specificity. […] Detection of hemoglobin S and diagnosis of sickle cell disease depend mainly on the clinical laboratory, where a combination of biochemical and molecular tests is used in the detection and confirmation of the diagnosis. […] The most popular methods for detecting these diseases are the full count of blood cells, Hb electrophoresis, and high-performance liquid chromatography (HPLC). These methods are considered the gold standard in the diagnosis of SCD.

• #2 About Sickle Cell Disease | Sickle Cell Disease (SCD) | CDC

  https://www.cdc.gov/sickle-cell/about/index.html

  In the United States, SCD is often found at birth through routine newborn screening. […] SCD is diagnosed with a simple blood test. In children born in the United States, it most often is found at birth during routine newborn screening tests at the hospital. […] SCD can be diagnosed while the baby is in the womb. Diagnostic tests before the baby is born, such as chorionic villus sampling and amniocentesis, can check for chromosomal or genetic abnormalities in the baby. […] Because children with SCD are at an increased risk of infection and other health problems, early diagnosis and treatment are important.

• #2 Diagnosing Sickle Cell Disease | NYU Langone Health

  https://nyulangone.org/conditions/sickle-cell-disease-in-children/diagnosis

  Specialists at Hassenfeld Childrens Hospital at NYU Langone have extensive experience in diagnosing and treating sickle cell disease. Early diagnosis of this condition is essential to beginning the treatments that can reduce the risk of life-threatening complications, such as severe infections and strokes. […] A second blood test is needed to confirm a diagnosis of sickle cell disease in babies with a positive newborn screening test result. […] After a blood test confirms sickle cell disease, your childs doctor performs a physical examination to look for common signs of the condition. […] Imaging tests are not used to diagnose sickle cell disease, but they play an important role in determining a childs risk of stroke, lung problems, and bone and joint abnormalities caused by the condition.

• #2 Sickle Cell Disease in Childhood: Part I. Laboratory Diagnosis, Pathophysiology and Health Maintenance | AAFP

  https://www.aafp.org/pubs/afp/issues/2000/0901/p1013.html

  Over the past 25 years, morbidity and mortality have decreased significantly in children with sickle cell disease, and screening tests are now available to diagnose the disease in newborns. […] Sickle cell disease can be diagnosed in newborns, as well as older persons, by hemoglobin electrophoresis, isoelectric focusing, high-performance liquid chromatography or DNA analysis. […] In 41 states and the District of Columbia, newborns are now screened for sickle cell disorders. […] A consensus development conference subsequently recommended universal nontargeted newborn screening to ensure that children with sickle cell disease were entered into a comprehensive system of care and received timely prophylactic penicillin. […] If both parents are accessible, studies of parental blood can aid in the diagnosis of sickle cell disease in the child. […] DNA analysis provides the most accurate diagnosis in patients of any age, but it is still relatively expensive.

• #2 What Prenatal Tests Are Used for Sickle Cell Anemia?

  https://www.healthline.com/health/prenatal-tests-for-sickle-cell-anemia

  Sickle cell anemia is a rare blood disorder passed down in families. Doctors can test for the trait that causes it before, during, or soon after birth. […] A blood test before or during pregnancy can help determine your carrier status and level of risk. […] If both parents are carriers of the gene, there is an increased risk of having a child with the disorder. […] This type of testing is called carrier screening. It can be performed before pregnancy (preconception) or during pregnancy (prenatal) as early as 8 to 10 weeks into pregnancy. […] A negative result means the sickle cell trait was not found in your blood. A positive result means the sickle cell trait was found in your blood. […] If your screening is positive, your doctor will test your partner to see if they also carry the trait.

• #2 Sickle cell anemia – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/diagnosis-treatment/drc-20355882

  A blood test can check for the form of hemoglobin that underlies sickle cell anemia. In the United States, this blood test is part of routine newborn screening. But older children and adults can get the test too. […] In adults, a blood sample is taken from a vein in the arm. In young children and babies, the blood sample is usually collected from a finger or heel. The sample then goes to a laboratory to be screened for the sickle cell form of hemoglobin. […] If you or your child has sickle cell anemia, your healthcare professional might suggest other tests to check for possible complications of the disease. […] If you or your child carries the sickle cell gene, you’ll likely be referred to a genetic counselor. […] Sickle cell disease can be diagnosed in an unborn baby by sampling some of the amniotic fluid surrounding the baby in the womb. If you or your partner has sickle cell anemia or the sickle cell trait, ask your healthcare team about this screening. […] Sickle cell anemia is usually diagnosed through genetic screening done when a baby is born. Those test results will likely be given to your primary healthcare professional, who may refer you to a doctor who specializes in blood disorders, called a hematologist, or a pediatric hematologist.

• #2 Sickle Cell Disease – Risk Factors, Symptoms, Diagnosis, Treatment, and Prevention | The American Journal of Patient Health Info

  https://ajphi.org/ajphi/article/view/46

  SCD is identified through newborn screening or genetic testing, detecting abnormal hemoglobin. Symptoms like anemia, pain crises, and organ damage aid diagnosis. […] Diagnosis of Sickle Cell Disease […] Complete Blood Count (CBC): This measures the number of red blood cells, white blood cells, and platelets in your blood. People with SCD often have fewer red blood cells and higher levels of reticulocytes (young red blood cells). […] Hemoglobin Electrophoresis: This test identifies the types of hemoglobin present in your blood. In SCD, there is a higher hemoglobin S (HbS) level, responsible for the characteristic sickling of red blood cells, which can be seen with the help of electrophoresis. […] Genetic Testing: Genetic tests can confirm the presence of abnormal hemoglobin genes that cause SCD. This is particularly important for carrier screening and prenatal testing. Hemoglobin gene mutations are identified through DNA analysis.

• #2 Techniques for the Detection of Sickle Cell Disease: A Review

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8148117/

  The complete blood count (CBC) is a primary test to characterize the different types of anemia. […] The peripheral blood smear (PBF) is usually done after spotting abnormality in the automation counts and is considered a landmark of any hematological evaluation. […] Sickling tests are mainly based on the polymerization of HbS in the deoxygenated state. […] Electrophoresis is a type of chromatography techniques, and it is considered as one of the important tests used to detect Hb variants. […] HPLC is documented to separate the hemoglobin fractions as they have different interaction with the stationary phase. […] The genetic study is important for the precise detection of the various types of sickle cell disease, based on the detection of -globin mutations that lead to sickle cell disease development. […] The pyrosequencing technique (PyS) has been used to identify different types of homozygous or heterozygous SCD. This test aims to sequence hemoglobin of a small number of patients accurately to differentiate between SS and S0 thalassemia and detect HbC mutations.

• #2 Sickle Cell Screen | Quest Diagnostics

  https://www.questdiagnostics.com/healthcare-professionals/clinical-education-center/faq/faq99v1

  No. People with sickle cell anemia (Hgb S/S) have the hemoglobin S gene mutation on both of their beta globin genes, whereas people with sickle cell trait (Hgb A/S) have the mutation on only one beta globin gene. […] Sickle cell disease refers to any condition that causes a sickling disorder. Sickle cell anemia is one type of sickle cell disease. It is caused by the presence of a Hgb S on both beta globin genes. […] The sickle cell solubility test is a qualitative test based on the relative insolubility of hemoglobin S compared to other hemoglobin variants. […] A positive test is consistent with sickle cell trait, sickle cell anemia and hemoglobin S in combination with another hemoglobin variant, e.g. hemoglobin C-Harlem. […] False-negative results can be obtained if there has been a recent transfusion, if the percentage of hemoglobin S is below 15% to 20%, if the concentration of fetal hemoglobin (Hgb F) is high and if there is severe anemia with the total hemoglobin 8 g/dL. […] This test does not differentiate sickle cell trait from sickle cell anemia nor is it intended as a screen for other significant hemoglobin variants that combine with hemoglobin S, e.g. hemoglobin C and hemoglobin D.

• #2

  https://www.elsevier.com/resources/clinicalkey-ai/gold-standard-test-to-diagnose-sickle-cell-anemia-681a

  The gold-standard tests to diagnose Sickle Cell Anemia are hemoglobin electrophoresis and high-performance liquid chromatography (HPLC). […] Hemoglobin electrophoresis is used to separate and identify different types of hemoglobin based on their electrical charge and structure. It is essential for diagnosing sickle cell anemia by demonstrating the presence of hemoglobin S (HbS). […] High-performance liquid chromatography (HPLC) quantifies the proportion of hemoglobin types and is particularly useful for diagnosing sickle cell disease and other hemoglobinopathies. […] Additional diagnostic methods include isoelectric focusing and DNA testing, which can provide detailed information on the specific mutations present in the globin genes. […] Newborn screening programs often use isoelectric focusing or HPLC to detect sickle cell disease in infants.

• #2 Screening for Sickle Cell Disease Plays Major Role in Condition Management | Clinical Lab Products

  https://clpmag.com/disease-states/cancer/screening-for-sickle-cell-disease-plays-major-role-in-condition-management/

  Screening, an area in which the laboratory plays a major role, has been one of the advances made in the management of this condition. The clinical lab is responsible for running the tests that determine whether a patient has sickle cell disease and, if so, what type. There is no gold standard, but two tests have been relied on for years and are often used together to confirm a diagnosis: hemoglobin electrophoresis and high-performance liquid chromatography (HPLC). […] Accurate screening is therefore key to reducing mortality related to sickle cell disease, particularly in young patients. So much rides on the screening that its important for labs to keep false results to a minimum, says Michael R. DeBaun, MD, MPH, associate professor of pediatrics and an attending physician in the division of hematology-oncology at the Washington University School of Medicine (St Louis). A false positive is not that bad, but a false negative is problematic, he adds.

• #2 Techniques for the Detection of Sickle Cell Disease: A Review

  https://www.mdpi.com/2072-666X/12/5/519

  The complete blood count (CBC) is a primary test to characterize the different types of anemia. […] The peripheral blood smear (PBF) is usually done after spotting abnormality in the automation counts and is considered a landmark of any hematological evaluation. […] Sickling tests are mainly based on the polymerization of HbS in the deoxygenated state. […] Electrophoresis is a type of chromatography techniques, and it is considered as one of the important tests used to detect Hb variants. […] Genetic study is important for the precise detection of the various types of sickle cell disease, based on the detection of β-globin mutations that lead to sickle cell disease development. […] The pyrosequencing technique (PyS) has been used to identify different types of homozygous or heterozygous SCD.

• #2 Sickle Cell Disease (SCD) Workup: Approach Considerations, Baseline Blood Study Abnormalities, Suggested Routine Clinical Laboratory Evaluations

  https://emedicine.medscape.com/article/205926-workup

  In children with microcytic hemolytic anemia, order quantitative HbA2 in addition to electrophoresis. HbA2 is found at low levels in normal human blood but tends to occur at higher levels in persons with beta thalassemia. If HbS is predominant, HbF is less than 30% and HbA2 is elevated, a diagnosis of HbSbeta-0 thalassemia can be inferred. If possible, perform a study of the parents. If their HbA2 levels are normal, consider the possibility of concomitant HbSS and iron deficiency in the child. If HbS is greater than HbA and HbA2 is elevated, a diagnosis of HbSbeta+ thalassemia can be inferred. If HbS and HbC are present in equal amounts, the diagnosis is HbSC disease. […] Homozygous children will have 80-90% HbS, 2-20% HbF, and 2-4% HbA2. A carrier patient will have 35-40% HbS and 60-65% HbA). The test is not accurate in a patient who has recently received blood transfusions.

• #2 Sickle cell trait – UpToDate

  https://www.uptodate.com/contents/sickle-cell-trait

  Sickle cell trait is a benign carrier condition, usually with none of the symptoms of sickle cell anemia or other sickle cell diseases. However, knowledge of sickle cell trait is important in many settings, such as preconception counseling and evaluation of rare complications. […] The screening, diagnosis, potential complications, and routine management of sickle cell trait are discussed here. […] Homozygous sickle cell disease (Hb SS) and other sickle cell disease (SCD) variants including sickle cell beta-thalassemia and hemoglobin SC (Hb SC) disease are discussed separately.

• #2 Sickle Cell Disease (SCD) Workup: Approach Considerations, Baseline Blood Study Abnormalities, Suggested Routine Clinical Laboratory Evaluations

  https://emedicine.medscape.com/article/205926-workup

  Noninvasive techniques can be used to identify asymptomatic brain disease in children with SCD. Transcranial near-infrared spectroscopy or cerebral oximetry is increasingly being used to screen for low cerebral venous oxygen saturation in these patients. […] Measurement of cerebral blood flow velocity by transcranial Doppler ultrasound (TCD) has proved a good predictor of stroke risk. Although overall, children with SCD have a stroke risk of 1% per year, those with high cerebral blood flow velocities (time-averaged mean velocity 200 cm/s) have stroke rates of greater than 10% a year. TCD surveillance remains the gold standard for stroke risk prediction in children with TCD; annual TCD screening from 2 to 16 years of age has been recommended. […] Consider lumbar puncture to exclude meningitis if the patient has altered mental status, meningeal signs, or fever. When focal neurologic signs are present or intracranial hemorrhage is suspected, consider computed tomography (CT) prior to lumbar puncture. Consider lumbar puncture if a subarachnoid hemorrhage is suspected and head CT is unrevealing.

• #2 Advances in the diagnosis and treatment of sickle cell disease | Journal of Hematology & Oncology | Full Text

  https://jhoonline.biomedcentral.com/articles/10.1186/s13045-022-01237-z

  PFT, which includes spirometry and measurement of lung volumes and diffusion capacity, is standard for diagnosing obstructive and restrictive lung disease in patients with SCD. […] Overt stroke is diagnosed by evidence of acute infarct on brain MRI diffusion-weighted imaging and focal deficit on neurologic exam. […] The diagnosis of sickle cell nephropathy is made by detecting abnormalities such as albuminuria, hematuria or CKD rather than by distinct diagnostic criteria in SCD, which have not been developed. […] Annual screening for urine microalbumin/protein is recommended beginning at age 10 years.

• #2

  http://www.idph.state.il.us/healthwellness/fs/sickle.htm

  Penicillin prophylaxis should begin by 2 months of age for infants with suspected sickle cell anemia, whether or not the definitive diagnosis has been established. […] Genetic counseling services are recommended for individuals with sickle cell diseases and for those who carry the abnormal traits, particularly concerning future pregnancies.

• #2 Sickle Cell Trait TestingShare to Facebookprint pageBookmark for latercaret iconFollow us on facebookFollow us on instagramFollow us on facebookFollow us on linkedincaret icon

  https://sickle-cell.com/screening

  You may then be diagnosed with sickle cell trait as an adult when a family member is diagnosed with sickle cell trait or sickle cell disease. Doctors will then give you access to educational material and genetic counseling services. […] If you have sickle cell trait, your child may inherit the sickle hemoglobin gene and have sickle cell trait. If you and your partner both have sickle cell trait, your child may inherit 2 genes for sickle hemoglobin and have sickle cell disease. […] You can get more information specific to your situation from a genetic counselor.

• #2 Newborn screening information for sickle cell anemia | Baby’s First Test | Newborn Screening | Baby Health

  https://www.babysfirsttest.org/newborn-screening/conditions/sickle-cell-anemia

  Your babys doctor may ask you if your baby is showing any of the signs of Hb SS (see Early Signs below). If your baby has certain signs, your babys doctor may need to treat them immediately. […] If your babys newborn screening result for sickle cell anemia (Hb SS) was out of the normal range, your babys doctor or the state screening program will contact you to arrange for your child to have additional testing. It is important to remember that an out-of-range screening result does not necessarily mean that your child has the condition. […] Follow-up testing will involve checking your babys blood sample for abnormally shaped red blood cells. If your baby has Hb SS, they will have a large number of red blood cells that are sickle or crescent shaped rather than donut-shaped. Clinical genetic testing for Hb SS is available and may be necessary to confirm the diagnosis. […] It is important to screen for and treat Hb SS because, if left untreated, babies can die within their first year of life.

• #2 Sickle cell anemia: How it is diagnosed and test results

  https://www.medicalnewstoday.com/articles/how-is-sickle-cell-anemia-diagnosed

  Doctors diagnose sickle cell anemia using a comprehensive approach that includes a medical history review, physical exam, blood tests, prenatal screening, genetic testing, and other diagnostic procedures. Early detection is essential for implementing appropriate management strategies and minimizing the risk of complications.

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