Alpha and beta thalassaemia among Chinese children in Guangxi Province, P.R. China: molecular and haematological characterization

Br J Haematol. 1994 Feb;86(2):351-4. doi: 10.1111/j.1365-2141.1994.tb04738.x.


We have studied nearly 100 patients with beta-thalassaemia major and 60 patients with Hb H disease who were attending the Haematology Clinic of Guangxi Medical College. Treatment of the patients was limited and only a few patients with beta-thalassaemia major received blood transfusion(s). As a result, the severe anaemia has led to early death at 3-4 years for beta zero-thalassaemia homozygotes, and 8-12 years for beta(+)-thalassaemia homozygotes. Four beta-thalassaemia alleles are responsible for nearly 90% of all beta-thalassaemia chromosomes. This information has resulted in the initiation of a prenatal testing programme at the local level. The patients with Hb H disease maintained a haemoglobin level of 6-10 g/dl and early death was infrequently observed. The --SEA deletion was the major type of alpha-thalassemia-1, while three smaller deletions (-2.7, -3.7 and -4.2 kb) and two nondeletional alpha-thalassaemia determinants (Hbs Constant Spring and Quong Sze) were the alpha-thalassaemia-2 types.

Publication types

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

MeSH terms

  • Alleles
  • Child
  • Child, Preschool
  • China
  • Chromosome Deletion
  • Female
  • Fetal Hemoglobin / analysis
  • Hemoglobin H / analysis
  • Hemoglobins / analysis
  • Hemoglobins, Abnormal / analysis
  • Humans
  • Male
  • Mutation
  • alpha-Thalassemia / blood
  • alpha-Thalassemia / genetics*
  • beta-Thalassemia / blood
  • beta-Thalassemia / genetics*


  • Hemoglobins
  • Hemoglobins, Abnormal
  • Fetal Hemoglobin
  • Hemoglobin H
  • hemoglobin Bart's