Materiały źródłowe

• #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.

• #3 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 child’s 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. […] 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. […] Providers from a special follow-up newborn screening team will contact you directly if your child has sickle cell disease. The providers will then retest your child to confirm the diagnosis. They may also recommend genetic testing. […] Newborn screening programs also find out whether your baby has sickle cell trait and is a carrier of the sickle cell gene.

• #4 Sickle cell disease – Knowledge @ AMBOSS

  https://www.amboss.com/us/knowledge/sickle-cell-disease/

  Sickle cell disease is caused by hereditary hemoglobinopathy, which includes sickle cell anemias (i.e., HbSS and HbS0thal) and other compound heterozygous genotypes (e.g., HbSC, Hb+thal). […] Screening for sickle cell disease is routinely recommended for all infants born in the United States. Hemoglobin separation studies (e.g., hemoglobin electrophoresis, high-performance liquid chromatography) and genetic studies are used to confirm the diagnosis. […] Sickle cell trait and/or disease is most commonly diagnosed on routine neonatal screening. Confirmatory studies should be performed for all individuals with a positive or inconclusive result on initial screening. […] Use a different modality than the initial screening test. […] Perform confirmatory studies within the first 2 months of age for infants with a positive or inconclusive result on sickle cell disease screening.

• #5 Sickle Cell Disease – Hematology.org

  https://www.hematology.org/education/patients/anemia/sickle-cell-disease

  Because sickle cell disease symptoms can begin by four months of age, early diagnosis is critical. […] All newborns in the United States are now tested for the disease. […] Sickle cell disease can be identified before birth by testing a sample of amniotic fluid or tissue from the placenta. […] It is important for you to talk with your doctor if you believe you may have sickle cell disease. […] Depending on your condition, your doctor may refer you to a hematologist, a doctor who specializes in blood conditions.

• #6 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 child’s 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. […] 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. […] Providers from a special follow-up newborn screening team will contact you directly if your child has sickle cell disease. The providers will then retest your child to confirm the diagnosis. They may also recommend genetic testing. […] Newborn screening programs also find out whether your baby has sickle cell trait and is a carrier of the sickle cell gene.

• #7 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.

• #8 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.

• #9 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.

• #10 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.

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

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

  Healthcare providers diagnose sickle cell anemia by doing a physical examination that may include feeling your spleen or liver. Theyll ask about your symptoms, particularly pain in your arms, legs or belly. They may ask about your medical history, including infections. They may order the following tests: […] Complete blood count (CBC): CBCs include specific tests to check on your red blood cells. […] Hemoglobin electrophoresis: Also known as high-performance liquid chromatography, this test analyzes your hemoglobin to find and measure the abnormal hemoglobin that causes sickle cell anemia. […] Genetic tests: Your provider may order tests to see if you have the genetic changes (mutations) that cause sickle cell anemia.

• #12 Sickle Cell Disease and Sickle Cell Anaemia | Doctor

  https://patient.info/doctor/sickle-cell-disease-and-sickle-cell-anaemia-pro

  Diagnosing sickle cell disease (investigations) […] FBC and blood film: the haemoglobin level is in the range 6-8 g/dL with a high reticulocyte count of 10-20%; the blood films may show sickled erythrocytes and features of hyposplenism. […] Sickling of red cells on a blood film with 2% sodium metabisulphite. […] Sickle solubility test: a mixture of HbS in a reducing solution such as sodium dithionite gives a turbid appearance because of precipitation of HbS, whereas normal haemoglobin gives a clear solution. […] Haemoglobin analysis (eg, by electrophoresis) is always needed to confirm the diagnosis. There is no HbA, 80-95% HbSS, and 2-20% HbF. […] Sickle cell trait is diagnosed by the finding of a positive sickling test together with haemoglobins A and S on electrophoresis. […] Other investigations such as renal function tests, LFTs and lung function tests should also be performed at diagnosis (baseline) and routine monitoring. Other investigations will depend on any complications – eg, infection screen, abdominal ultrasound, CT scan of the head (eg, if a subarachnoid haemorrhage is suspected).

• #13 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.

• #14 Sickle cell disease – Wikipedia

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

  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. […] 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.

• #15 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.

• #16 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. […] No. Sickle cell disease refers to any condition that causes a sickling disorder. Sickle cell anemia is one type of sickle cell disease. […] 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.

• #17 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.

• #18 Sickle cell disease – Wikipedia

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

  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. […] 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.

• #19 Sickle Cell Disease (Anemia): Symptoms, Treatment, and Life Expectancy

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

  Sickle cell anemia is suggested when the abnormal sickle-shaped cells in the blood are identified under a microscope. Testing is typically performed on a smear of blood using a special low-oxygen preparation. This is referred to as sickle prep. Other prep tests can also be used to detect abnormal hemoglobin S, including solubility tests performed on tubes of blood solutions. The disease can be confirmed by specifically quantifying the types of hemoglobin present using hemoglobin electrophoresis. […] Prenatal diagnosis (before birth) of sickle cell anemia is possible using amniocentesis or chorionic villus sampling. The sample obtained is then tested for DNA analysis of the fetal cells. […] The hemoglobin electrophoresis test precisely identifies the hemoglobin in the blood by separating them. The separation of the different hemoglobin is possible because of the unique electrical charges they each have on their protein surfaces, causing them each to move characteristically in an electrical field as tested in the laboratory.

• #20 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.

• #21

  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.

• #22 Sickle cell disease – Wikipedia

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

  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. […] 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.

• #23

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

  Diagnosis is established by hemoglobin analysis using protein-based methods (eg, protein electrophoresis, high-performance liquid chromatography, isoelectric focusing) or molecular methods (DNA testing). […] Hemoglobin analysis establishes diagnosis of sickle cell anemia and excludes other hemoglobinopathies. Hemoglobin assay demonstrating HbS in conjunction with absent or diminished amount of adult hemoglobin is diagnostic. […] Newborn screening programs test blood obtained by heel prick using isoelectric focusing or high-performance liquid chromatography. […] The sickle solubility test will detect sickling of hemoglobin in solution by treatment with a reducing agent. It is specific for sickle hemoglobin but does not differentiate among HbAS, HbSS, and other compound heterozygotes of sickle cell hemoglobin. […] Hemoglobin electrophoresis was the first method used to demonstrate hemoglobin variants but is time-consuming and labor-intensive. […] DNA sequence analysis identifies the specific globin gene mutation.

• #24 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.

• #25 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. Screening programs were widely implemented after a double-blind, randomized, placebo-controlled trial demonstrated an 84 percent reduction in the incidence of pneumococcal sepsis, the most serious complication of sickle cell anemia in young infants, when prophylactic oral penicillin was initiated by the age of three months. […] 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.

• #26 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.

• #27 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.

• #28 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.

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

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

  Carrier screening can be performed with a blood test. During the test, a needle is inserted into a vein in the arm to collect a blood sample. […] Your doctor can get confirmation about your baby’s SCA status by directly testing fetal or pregnancy cells. […] If your baby tests positive for sickle cell anemia, there is no standard cure for SCA. […] According to the Centers for Disease Control and Prevention (CDC), all babies even if they appear healthy are tested for hemoglobin disorders, including SCA, at birth. […] If you opt to have genetic testing, amniocentesis, or CVS, you may learn if your baby has SCA before they are born. Otherwise, your child is screened at birth. […] If you and your partner carry the sickle cell trait, there’s a 25% chance your baby may be born with SCA. Early detection is important in making sure a child with SCA can get the care they need to manage the condition.

• #30 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.

• #31 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Sickle-Cell-Disease-Diagnosis.aspx

  If a pregnant woman’s test is found to be positive, their partner usually needs to be tested for the presence of sickle cell trait. […] A prenatal diagnosis of the baby can be made using an amniotic fluid or placenta tissue sample, which can be tested for genetic abnormalities. […] When both parents are aware that they are carriers of the sickle cell disease gene and prefer not to have a child with sick cell disease, they can opt for pre-implantation genetic diagnosis (PIGD) to manipulate the fertilization process.

• #32 Azthena logo with the word Azthena

  https://www.news-medical.net/health/Sickle-Cell-Disease-Diagnosis.aspx

  If a pregnant woman’s test is found to be positive, their partner usually needs to be tested for the presence of sickle cell trait. […] A prenatal diagnosis of the baby can be made using an amniotic fluid or placenta tissue sample, which can be tested for genetic abnormalities. […] When both parents are aware that they are carriers of the sickle cell disease gene and prefer not to have a child with sick cell disease, they can opt for pre-implantation genetic diagnosis (PIGD) to manipulate the fertilization process.

• #33

  https://www.nhs.uk/conditions/sickle-cell-disease/carriers/

  If you can find out if you’re a carrier of sickle cell by having a simple blood test. […] Screening for sickle cell disease is offered to all pregnant women in England, although most women will be at low risk and will not need to have a blood test to check if they’re a carrier. […] Anyone can ask to have a free blood test to find out if they’re a carrier at any point. […] You can request the test from your GP surgery or nearest genetic counsellor, who’ll discuss the result and implications with you if you’re found to carry sickle cell. […] If you’re planning to have a child and you know you’re a carrier, it’s a good idea for your partner to be tested. […] If both of you are carriers and you’re planning to have a baby, talk to your GP about getting a referral to a genetic counsellor, who can explain the risks to your children and what your options are. […] PGD is a treatment used in IVF where the resulting embryos are tested to check that they do not have sickle cell disease before they’re implanted in the womb.

• #34 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 electrophoresis 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.

• #35 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% HbA. 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.

• #36 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% HbA. 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.

• #37 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% HbA. 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.

• #38 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 disease includes individuals with sickle cell anemia as well as those with HbSC disease, HbS beta + thalassemia and other rare sickle cell disease causing variants. […] Diagnosis requires hemoglobin electrophoresis. […] 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. […] 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. […] Diagnose using hemoglobin electrophoresis.

• #39 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. […] In HbSbeta 0 thalassemia, only HbS is found on electrophoresis. […] Sickle cell trait is the heterozygous carrier state of HbS. […] Nevertheless, providing genetic counseling to prospective parents with sickle cell trait is important. […] HbS variants may occur as double heterozygotes with other Hb variants.

• #40 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 electrophoresis 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.

• #41 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 electrophoresis 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.

• #42 Sickle Cell Tests – Testing.com

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

  Sickle cell tests are routinely ordered soon after birth to screen newborns for sickle cell anemia. […] Testing may be done when those who were born before newborn screening was mandated want to know if they have sickle cell disease or are carrying the sickle cell trait, especially if they are in a high-risk group. […] 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.

• #43 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. […] No. Sickle cell disease refers to any condition that causes a sickling disorder. Sickle cell anemia is one type of sickle cell disease. […] 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.

• #44 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.

• #45 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.

• #46 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. […] Beginning when your child is 10 years old, our doctors may perform urine tests to measure the amount of protein in your childs urine.

• #47 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.

• #48 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.

• #49 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. […] A silent cerebral infarct is defined by a brain MRI signal abnormality at least 3 mm in one dimension and visible in 2 planes on fluid-attenuated inversion recovery (FLAIR) T2-weighted images and no 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.

• #50 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.

• #51 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. […] Beginning when your child is 10 years old, our doctors may perform urine tests to measure the amount of protein in your childs urine.

• #52 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. […] Beginning when your child is 10 years old, our doctors may perform urine tests to measure the amount of protein in your childs urine.

• #53 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. […] A silent cerebral infarct is defined by a brain MRI signal abnormality at least 3 mm in one dimension and visible in 2 planes on fluid-attenuated inversion recovery (FLAIR) T2-weighted images and no 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.

• #54 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. […] Beginning when your child is 10 years old, our doctors may perform urine tests to measure the amount of protein in your childs urine.

• #55 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.

• #56 Sickle Cell Tests – Testing.com

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

  Sickle cell tests are routinely ordered soon after birth to screen newborns for sickle cell anemia. […] Testing may be done when those who were born before newborn screening was mandated want to know if they have sickle cell disease or are carrying the sickle cell trait, especially if they are in a high-risk group. […] 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.

• #57 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.

• #58 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.

• #59 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.

• #60 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.

• #61 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.

• #62 Sickle Cell Disease (SCD): Diagnosis & Treatment | NewYork-Presbyterian

  https://www.nyp.org/pediatrics/sickle-cell-disease/treatment

  How is Sickle Cell Disease (SCD) Diagnosed? Diagnosis An SCD or sickle cell anemia diagnosis is determined by a simple blood test. In the United States, this blood test usually is given as part of routine newborn screening. Blood samples are also taken in order to diagnose older children and adults. […] Sickle cell disease can be detected in an unborn child. A sample of amniotic fluid (the liquid surrounding the baby) is taken from the womb and tested. If you are at risk for having a child with SCD, talk to your doctor about genetic testing. […] Sickle cell anemia is a lifelong condition. The only known possible cure is a stem cell transplant, a procedure which comes with high risks.

• #63 About Sickle Cell Disease – MN Dept. of Health

  https://www.health.state.mn.us/diseases/sicklecell/about.html

  Sickle cell disease is usually diagnosed at birth through a blood spot test, which is part of the Newborn Screening Program. A blood test can also be performed at any time for those not screened at birth. […] Treatment can help relieve symptoms and complications of SCD, which vary and can range from mild to severe. Treatment will be different for each person based on what symptoms they have. The goals of treating SCD are to prevent and relieve SCD complications, including pain, infections, organ damage, and strokes. […] A blood or marrow transplant is a procedure that takes healthy stem cells from a donor and puts them into someone else. These healthy stem cells cause the bone marrow to make new cells that are not in the sickle shape. Many people do well after a BMT and experience significant improvement in their quality of life. However, there are risks associated with transplants. Discuss eligibility for transplant and associated risks and benefits with a transplant doctor. […] Researchers are studying a new potential cure through gene therapy. Right now, gene therapy is only available in clinical trials.

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

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

  Newborns in countries with screening programs may receive early diagnoses through advanced assays such as high-performance liquid chromatography (HPLC), which detect hemoglobin variants and are verified via hemoglobin electrophoresis. […] 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. […] Recent developments in the diagnosis of SCD have focused on leveraging advanced technologies to overcome the limitations of traditional diagnostic methods. These innovations aim to enhance accuracy, reduce costs, and improve accessibility, particularly in resource-limited settings.

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

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

  Diagnosis of SCD involves complete blood tests, blood smears, hemoglobin electrophoresis, HPLC, and genetic sickling tests. […] Recent studies have explored emerging portable techniques for early detection and diagnosis of SCD and carrier states. […] Hemoglobin electrophoresis is a critical diagnostic tool for SCD, offering valuable insights into the hemoglobin variants present in patients. […] Recent advancements have enhanced the utility of hemoglobin electrophoresis in diagnosing and managing SCD. […] The absence of HbA on electrophoresis can indicate DHTR, which is crucial for appropriate management and reducing morbidity and mortality. […] While traditional electrophoresis methods have limitations in sensitivity and specificity, they remain a cornerstone in SCD diagnosis. […] The use of IEF in diagnosing SCD is well-established, particularly for early detection in newborns, which is crucial for preventing complications associated with the disease.

• #66 Sickle SCAN – BioMedomics Inc.

  https://www.biomedomics.com/products/hematology/sicklescan-2-2/

  BioMedomics’ Sickle SCAN is a multiplexed, qualitative, point-of-care immunoassay to aid in the rapid diagnosis of sickle cell disorders. The test is made up of three indicators which detect the presence of hemoglobins A, S, and C, allowing the user to rapidly distinguish between normal, carrier, and sickle cell disease samples. Sickle SCAN has both a combined sensitivity and specificity of >99% and provides results in 5 minutes, making it one of the fastest and most accurate tests in the world. […] To initiate life-saving therapies, early diagnosis of SCD is key. […] Before Sickle SCAN, SCD diagnosis was only possible using complex lab equipment. […] Sickle SCAN helps overcome the diagnostic gap. Ideal for providing quick and accurate results at the point-of-care, the test requires no supporting equipment and can also be used preventatively for genetic counseling to reduce the incidence of sickle cell births.

• #67 Diagnosis of Sickle Cell Disease in Gabon Using Sickle SCAN®: A Point-of-Care Blood Test – International Journal of Translational Medical Research and Public Health

  https://ijtmrph.org/sickle-cell-disease-diagnosis-of-sickle-cell-disease-in-gabon-using-sickle-scan-a-point-of-care-blood-test/

  Sickle cell disease (SCD) is the world’s most common genetic blood disorder. In Gabon, there are limited resources for early and accurate detection of sickle cell or trait conditions. The most commonly used diagnostic methods require trained staff, adequate infrastructure, electric power, and enough time to perform the analysis. The purpose of this pilot study is to develop a standardized screening procedure for SCD in order to determine its prevalence in the southeast area of Gabon by using a rapid and reliable test that does not require significant resources, such as the Sickle SCAN device. […] The accuracy of the Sickle SCAN device was assessed based on testing 272 blood samples. The exact hemoglobin was identified in 100% of the samples. The test comprises three proprietary indicators that detect the presence of hemoglobin A, S, and C, thus allowing the user to rapidly distinguish between normal (HbAA, N=142), carrier (HbAS, N=41), and sickle cell disease (HbSS, N=88; HbSC, N=1) samples.

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

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

  HPLC effectively separates hemoglobin fractions due to their differential interactions with the stationary phase, with each variant exhibiting a unique retention time. […] The genetic analysis is crucial for accurately identifying different forms of SCD by identifying mutations in the -globin gene responsible for its development. […] Recent innovations in PCR techniques have markedly improved the diagnostic capacity for SCD, providing expedited, economical, and readily available alternatives, especially beneficial in resource-constrained environments where conventional diagnostic approaches are impractical. […] Recent advancements in lateral flow immunoassays (LFIA) have significantly enhanced the diagnosis of SCD, particularly in resource-limited settings. […] Recent advancements in density-based separation techniques have shown promise in the diagnosis of SCD.

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

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

  Overall, the integration of advanced flow cytometry techniques in SCD diagnosis and management offers significant improvements in precision, speed, and clinical relevance, making it a promising tool for enhancing patient care. […] The pyrosequencing technique has emerged as a valuable tool in the diagnosis and confirmation of SCD, offering a high-throughput, DNA-based approach to detect mutations in the hemoglobin beta (HBB) gene.

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

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

  Overall, the integration of advanced flow cytometry techniques in SCD diagnosis and management offers significant improvements in precision, speed, and clinical relevance, making it a promising tool for enhancing patient care. […] The pyrosequencing technique has emerged as a valuable tool in the diagnosis and confirmation of SCD, offering a high-throughput, DNA-based approach to detect mutations in the hemoglobin beta (HBB) gene.

• #71 Sickle Cell Disease (SCD): Types, Symptoms & Causes

  https://my.clevelandclinic.org/health/diseases/12100-sickle-cell-disease

  Sickle cell disease affects the hemoglobin within your red blood cells. […] Sickle cell disease is the most common inherited blood disorder that affects your red blood cells. […] In the United States, hospitals test all babies for sickle cell disease as part of routine newborn screenings. This test pricks your baby’s heel to get a sample of their blood. It checks for various other conditions, as well. Your child’s healthcare provider will obtain a hemoglobin electrophoresis to confirm the diagnosis. […] Your healthcare provider can also diagnose sickle cell disease before your baby is born using prenatal testing. These tests include chorionic villus sampling and amniocentesis. […] A bone marrow transplant (stem cell transplant) can cure sickle cell disease. […] Sickle cell disease treatment includes medications, transfusions, blood and marrow transplant and gene therapy. […] Researchers are currently testing gene therapy to treat SCD. This calls for correcting an abnormal hemoglobin gene or putting a normal hemoglobin gene into a person’s stem cells.

• #72 About Sickle Cell Disease – MN Dept. of Health

  https://www.health.state.mn.us/diseases/sicklecell/about.html

  Sickle cell disease is usually diagnosed at birth through a blood spot test, which is part of the Newborn Screening Program. A blood test can also be performed at any time for those not screened at birth. […] Treatment can help relieve symptoms and complications of SCD, which vary and can range from mild to severe. Treatment will be different for each person based on what symptoms they have. The goals of treating SCD are to prevent and relieve SCD complications, including pain, infections, organ damage, and strokes. […] A blood or marrow transplant is a procedure that takes healthy stem cells from a donor and puts them into someone else. These healthy stem cells cause the bone marrow to make new cells that are not in the sickle shape. Many people do well after a BMT and experience significant improvement in their quality of life. However, there are risks associated with transplants. Discuss eligibility for transplant and associated risks and benefits with a transplant doctor. […] Researchers are studying a new potential cure through gene therapy. Right now, gene therapy is only available in clinical trials.

• #73 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. […] 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. […] In addition to blood and genetic tests, healthcare professionals may recommend other diagnostic tests to evaluate the extent of organ damage and complications that may occur with sickle cell anemia.

• #74

  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.

• #75

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

  DNA testing offers a definitive diagnosis by identifying the specific mutation in the -globin gene responsible for the disease. […] In the context of diagnosing sickle cell anemia, it is crucial to use specific and sensitive diagnostic tests to ensure accurate identification of the disease. Hemoglobin electrophoresis and HPLC are widely recognized for their reliability in detecting HbS, the abnormal hemoglobin that underlies sickle cell anemia. […] These tests are complemented by other methods such as isoelectric focusing, which is particularly useful in newborn screening to identify sickle cell disease early in life. […] DNA testing, although not routinely used for initial diagnosis, provides a precise identification of the hemoglobin mutation, which can be critical for genetic counseling and management of the disease.

• #76

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

  DNA testing offers a definitive diagnosis by identifying the specific mutation in the -globin gene responsible for the disease. […] In the context of diagnosing sickle cell anemia, it is crucial to use specific and sensitive diagnostic tests to ensure accurate identification of the disease. Hemoglobin electrophoresis and HPLC are widely recognized for their reliability in detecting HbS, the abnormal hemoglobin that underlies sickle cell anemia. […] These tests are complemented by other methods such as isoelectric focusing, which is particularly useful in newborn screening to identify sickle cell disease early in life. […] DNA testing, although not routinely used for initial diagnosis, provides a precise identification of the hemoglobin mutation, which can be critical for genetic counseling and management of the disease.

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