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).
Alpha Thalassemia Major / Hydrops Fetalis / Hb Bart Syndrome (–/–)
Hemoglobin H Disease (–/-α)
Alpha Thalassemia Trait / Alpha Thalassemia Minor (–/αα) or (-α/-α)
Silent Carrier (-α/αα)
GeneReviews: Alpha Thalassemia
Society for Maternal-Fetal Medicine (SMFM) Clinical Guideline #8: The fetus at risk for anemia–diagnosis and management
Advances in the management of α-thalassemia major: reasons to be optimistic
Maternal Fetal Medicine Specialist Locator-SMFM
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