Long-term survival of a baby with homozygous alpha-thalassemia-1

Acta Haematol. 1992;88(4):198-200. doi: 10.1159/000204686.

Abstract

Triplets born to a Chinese woman consisted of 2 healthy boys and a girl with hemoglobin Bart's hydrops syndrome. The girl with hemoglobin Bart's hydrops syndrome, confirmed by gene analysis to be homozygous for alpha-thalassemia-1, survives for 27 months at the time of reporting. The dilemma in sustaining her life and the availability of other therapeutic options are briefly discussed. This is the third case report of homozygous alpha-thalassemia-1 with long-term survival.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Chromosome Mapping
  • DNA / blood
  • Edema / blood
  • Edema / genetics
  • Female
  • Hemoglobins, Abnormal / analysis
  • Homozygote*
  • Humans
  • Male
  • Restriction Mapping
  • Syndrome
  • Triplets
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / genetics*

Substances

  • Hemoglobins, Abnormal
  • DNA
  • hemoglobin Bart's