title: εGγAγδβ0-thalassemia: a rare but clinically significant cause of hemolytic anemia in infants.
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.
authors.affiliation: Division of Pediatric Hematology/Oncology, Nationwide Children's Hospital/The Ohio State University, Columbus, OH.
authors.forename: Anthony N
authors.initials: AN
authors.lastname: Audino
authors.forename: Nicholas D
authors.initials: ND
authors.lastname: Yeager
mesh_terms: D000743:Anemia, Hemolytic / Q000097:blood / Q000209:etiology* / Q000235:genetics; D000751:Anemia, Neonatal / Q000097:blood / Q000209:etiology* / Q000235:genetics; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D035583:Rare Diseases / Q000097:blood / Q000150:complications / Q000235:genetics; D017086:beta-Thalassemia / Q000097:blood / Q000150:complications* / Q000235:genetics; D055538:delta-Thalassemia / Q000097:blood / Q000150:complications* / Q000235:genetics