A Czechoslovakian teenager with Hb E-beta zero-thalassemia [IVS-I-1 (G----A)] complicated by the presence of an alpha-globin gene triplication

Ann Hematol. 1991 Jul;63(1):42-4. doi: 10.1007/BF01714960.

Abstract

We have examined the molecular basis of three inherited hemoglobin (Hb) disorders present in a Czechoslovakian girl with a severe, transfusion-dependent, hemolytic anemia. She is heterozygous for Hb E (on a genetic background specific for Czechoslovakian families), heterozygous for the beta zero-thalassemia (thal) allele IVS-I-1 (G----A), and heterozygous for an alpha-globin gene triplication. The combination of these three undesirable traits results in a severe chain imbalance that is the basis of the serious hemolytic disorder observed in this teenager.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Anemia, Hemolytic / blood
  • Anemia, Hemolytic / etiology*
  • Czechoslovakia
  • Female
  • Globins / genetics*
  • Hemoglobin E / genetics*
  • Heterozygote
  • Humans
  • Mutation
  • Pedigree
  • Thalassemia / blood
  • Thalassemia / complications*
  • Thalassemia / genetics

Substances

  • Globins
  • Hemoglobin E