Clinical Manifestations of Alpha Thalassemia

Alpha Thalassemia Major

    • Gene deletions that cause alpha thalassemia can be homozygous or heterozygous deletions.
    • Homozygous alpha thalassemia (alpha thalassemia major), also known as hydrops fetalis, is a lethal hemoglobin disorder which usually results in stillborn infants.
    • Both alpha chain loci on each chromosome of the pair are deleted, resulting in a total absence of alpha chains. These chains are needed for all normal hemoglobins.
    • If born live, infants with alpha thalassemia major exhibit hepatosplenomegaly, ascites, edema, low birth weight and die within a few hours.
    • Ethnic groups most commonly associated with this form of alpha thalassemia include primarily Southeast Asians and sometimes people of the islands in the Mediterranean.

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