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Diagnosing nondeletional alpha thalassemia
Testing for nondeletional alpha thalassemia in a symptomatic individual
Follow-up testing to an abnormal hemoglobin electrophoresis that identified an alpha globin chain variant
A hemoglobin electrophoresis evaluation (HBELC / Hemoglobin Electrophoresis Cascade, Blood) is always indicated prior to alpha globin gene sequencing because these conditions can be complex and protein data allows accurate and rapid classification of the patient phenotype.
Not the preferred first-tier molecular test for carrier screening or diagnosis of alpha thalassemia. This test is used to identify nondeletional alpha-thalassemia variants when there is a strong clinical suspicion and ATHAL / Alpha-Globin Gene Analysis, Varies, is negative. This test can also identify alpha globin variants that can result in variable phenotypes, such as erythrocytosis, chronic hemolytic anemia, and many that are clinically benign.