εGγAγδβ0-Thalassemia

Abstract

Normal hemoglobin is made of a tetramer of 2 α-globin and 2 β-globin polypeptide chains. Deletions in the β-globin gene cluster can range from a few hundred base pairs to loss of the entire cluster resulting in rare, but clinically significant, thalassemias. One such entity is εGγAγδβ0-thalassemia, a condition that presents within the first few weeks of life as a Coombs-negative hemolytic anemia and is not identified on routine newborn screening or hemoglobin electrophoresis.