Molecular defects in Hb H hydrops fetalis

Br J Haematol. 1997 Feb;96(2):224-8. doi: 10.1046/j.1365-2141.1997.d01-2017.x.


The molecular defect in two unique cases of Hb H hydrops fetalis has been characterized. Both cases are due to co-inheritance of a 'non-deletion' defect affecting the alpha2 gene: at codon 30 delta GAG, Glu) and codon 59 (G --> A, Gly --> Asp) respectively, and a zeta-alpha thalassaemia (thal) 1 or alpha thal 1 genotype. These two non-deletion defects, unlike previously described cases, resulted in severe anaemia of the fetuses and emphasize the importance of performing prenatal diagnosis for these families.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Gene Deletion
  • Globins / genetics
  • Hemoglobin H / genetics*
  • Humans
  • Hydrops Fetalis / blood
  • Hydrops Fetalis / diagnosis
  • Hydrops Fetalis / genetics*
  • Mutation*
  • Polymerase Chain Reaction
  • Prenatal Diagnosis / methods


  • Globins
  • Hemoglobin H