Haemoglobin H disease due to (--SEA) alpha-globin gene deletion and alpha2-codon 30 (DeltaGAG) mutation: a family study

Clin Lab Haematol. 2001 Oct;23(5):325-7. doi: 10.1046/j.1365-2257.2001.00411.x.

Abstract

A Chinese family in which two siblings suffer from haemogloblin (Hb) H disease due to (--SEA) alpha-globin gene deletion and alpha2-codon 30 (DeltaGAG) mutation is described. Both siblings are transfusion-independent and have survived to adulthood. In contrast to previous report of hydrops fetalis associated with zeta-alpha-thal-1 and alpha2-codon 30 (DeltaGAG) mutation, the zeta-globin genes are intact in the two siblings, which most probably alleviates the gamma-chain excess and protects the fetus from severe anaemia. Correlation of genotype with phenotype in Hb H disease is important for genetic counselling, especially in the antenatal setting.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Family Health
  • Female
  • Gene Deletion
  • Genotype
  • Globins / genetics*
  • Humans
  • Longevity / genetics
  • Male
  • Middle Aged
  • Mutation
  • Pedigree
  • Phenotype
  • alpha-Thalassemia / genetics*

Substances

  • Globins