εGγAγδβ0-thalassemia: a rare but clinically significant cause of hemolytic anemia in infants

J Pediatr Hematol Oncol. 2014 Jan;36(1):e49-50. doi: 10.1097/MPH.0b013e31827518a3.

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.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Hemolytic / blood
  • Anemia, Hemolytic / etiology*
  • Anemia, Hemolytic / genetics
  • Anemia, Neonatal / blood
  • Anemia, Neonatal / etiology*
  • Anemia, Neonatal / genetics
  • Female
  • Humans
  • Infant, Newborn
  • Rare Diseases / blood
  • Rare Diseases / complications
  • Rare Diseases / genetics
  • beta-Thalassemia / blood
  • beta-Thalassemia / complications*
  • beta-Thalassemia / genetics
  • delta-Thalassemia / blood
  • delta-Thalassemia / complications*
  • delta-Thalassemia / genetics