Combination of three alpha-globin gene loci deletions and hemoglobin New York results in a severe hemoglobin H syndrome

Am J Hematol. 1987 Mar;24(3):301-6. doi: 10.1002/ajh.2830240310.

Abstract

A chinese patient with hemoglobin (Hb) H and Hb New York is described. Unlike classical Hb H disease, the additional beta New York chain defect resulted in a more marked alpha/beta-globin chain imbalance in this patient with only one alpha-gene, accounting for her severe anemia (3.4-6.8 g/dl) during the steady state.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia / genetics
  • Anemia / therapy
  • Blood Transfusion
  • Chromosome Deletion
  • DNA / analysis
  • Erythrocyte Aging
  • Female
  • Globins / biosynthesis
  • Globins / genetics*
  • Hemoglobins, Abnormal / analysis*
  • Humans
  • Thalassemia / etiology*
  • Thalassemia / genetics

Substances

  • Hemoglobins, Abnormal
  • Globins
  • DNA
  • hemoglobin New York