The Variable Clinical Presentation of Alpha Thalassemia
Alpha thalassemia is an autosomal recessive condition that affects the production of hemoglobin. The clinical presentation ranges from asymptomatic to severe fetal anemia and hydrops. Alpha thalassemia is one of the most common genetic conditions worldwide, and screening should be offered to individuals from known high-risk ethnicities (Asian, Mediterranean, African). Given that ethnicity is not always known, those with a low MCV (<80), normal ferritin, and normal Hb electrophoresis should be offered genetic testing for this condition (see Related ObG Topics below).
Background and Genetics
Alpha globin chains are a critical component of adult and fetal hemoglobin molecules
There are normally four copies of the alpha globin genes (HBA1 and HBA2 on each chromosome)
Disease severity is inversely correlated with the number of functional alpha globin genes
The following genotypes describe the number of functional alpha globin genes
(αα/αα): Normal genotype
(-α/αα): Alpha thalassemia silent carrier
(–/αα) or (-α/-α): Alpha thalassemia trait / Alpha thalassemia minor
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