Alpha Thalassemia Test »
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Alpha-thalassemia - Screening BMJ Best Practice.

α-Thalassemia OMIM 141800 is the most common inherited disorder of hemoglobin Hb synthesis in the world, with gene frequencies varying between 1% and 98% throughout the tropics and subtropics. α-Thalassemia can occur in all ethnic groups but is more common in those of Southeast Asian descent. Screening for alpha-thalassemia is focused on prenatal counseling and diagnosis and on newborn screening. Genetic counseling and pregnancy testing. Patients with the appropriate ethnic background i.e., Chinese, Taiwanese, Southeast Asian, Mediterranean Ryan K, Bain BJ, Worthington D, et al; British Committee for Standards in Haematology. Significant haemoglobinopathies: guidelines for screening.

Aug 01, 2009 · Alpha Thalassemia Testing Is there a test for thalassemia? Blood tests and family genetic studies can show whether an individual has thalassemia or is a carrier. If both parents are carriers, they may want to consult with a genetic counselor for help in deciding whether to conceive or whether to have a fetus tested for thalassemia. Genetic testing for alpha thalassemia can be done on a blood sample. Genetic testing, also called DNA testing, looks for the number of working alpha hemoglobin genes. Genetic testing is the only test that can determine specifically what type of alpha thalassemia a person has. In most cases, alpha thalassemia is diagnosed before a child's second birthday or through newborn screening, a blood test given when the child is first born. Children with alpha thalassemia major may have a swollen abdomen or symptoms of anemia or failure to thrive.

If you're missing two genes, you have alpha thalassemia trait also called alpha thalassemia minor. You may have mild anemia. If you're missing three genes, you likely have hemoglobin H disease which a blood test can detect. This form of thalassemia causes moderate to severe anemia. Very rarely, a baby is missing all four genes. Alpha 0 thalassemia trait: Mutation of both alpha2 globin genes, or deletion of alpha1 and alpha2 globin genes in cis -α/-α; --/αα; mild microcytic anemia possible. Hemoglobin H disease: Mutation of three alpha globin genes --/-α; hemolysis with Heinz bodies, moderate anemia, and splenomegaly. Alpha thalassemia affects the amount of hemoglobin in the red blood cells. Adult hemoglobin hemoglobin A is made of alpha and beta globins. Normally, people have four genes for alpha globin with two genes on each chromosome αα/αα. People with alpha thalassemia trait only have two genes for alpha globin. The alpha-thalassemia syndromes however, are usually caused by the deletion of one or more alpha globin genes and are sub-classified according to the number of alpha globin genes that are deleted or mutated: one gene deleted alpha-plus thalassemia; two genes deleted on the same chromosome or in cis alpha-zero thalassemia; three genes deleted HbH disease; or four genes deleted hydrops.

Molecular analysis of DNA sequences DNA analysis can be used for the confirmation of a diagnosis of alpha-thalassemia, particularly for the detection of alpha-thalassemia carriers deletions or mutations in only one or two alpha-globin genes. Prenatal diagnosis of deletional alpha-thalassemia Carrier screening for individuals from high-risk populations for alpha-thalassemia Genetics Test Information Provides information that may help with selection of the correct genetic test or proper submission of the test request. GTR Home > Tests > Alpha-Thalassemia. GTR Test IDHelpEach Test is a specific, orderable test from a particular laboratory, and is assigned a unique GTR accession number. The format is GTR00000001.1, with a leading prefix 'GTR' followed by 8 digits, a period, then 1 or more digits representing the version. Recommended testing for a suspected complex thalassemia is similar to that for alpha α and β thalassemias, and includes a CBC with peripheral smear, hemoglobin electrophoresis or equivalent with hemoglobin Hb A2 HbA2 quantitation, HbF measurement, and HbH inclusion stain.

Thalassemia and Hemoglobinopathy Comprehensive Evaluation.


Multiple testing options providing information on the genetic health of your baby during the first and second trimesters. Hereditary cancer. Genetic testing to help determine whether you have a mutation that increases your risk to develop certain cancers. Alpha-thalassemia Information Sheet. About.

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