Hemoglobin constitution of double heterozygotes for alpha or beta-thalassemia and Hb J Sardegna

Hemoglobin. 1984;8(5):497-507. doi: 10.3109/03630268408991734.

Abstract

In this study, we carried out alpha-globin gene mapping in 12 heterozygotes for Hb J Sardegna and in 5 double heterozygotes for this variant and beta-thalassemia. Then, we correlated the Hb pattern with the alpha and beta-globin genotype. In heterozygotes for Hb J Sardegna with a deletion of a single alpha-globin gene (alpha alpha/-alpha) the amount of the abnormal Hb was significantly (p much less than 0.001) higher than in heterozygotes for this variant with a full complement of 4 alpha-globin structural genes (27.5% versus 20.4%). Double heterozygotes for the abnormal hemoglobin and beta-thalassemia with a full complement of 4 alpha-globin structural genes tended to have lower amount of the abnormal Hb than heterozygotes for this variant who do not have beta-thalassemia.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosome Mapping
  • Female
  • Genes
  • Globins / genetics*
  • Hemoglobin J / genetics*
  • Hemoglobins, Abnormal / genetics*
  • Heterozygote
  • Humans
  • Male
  • Mutation
  • Pedigree
  • Thalassemia / blood*
  • Thalassemia / genetics

Substances

  • Hemoglobins, Abnormal
  • Hemoglobin J Sardegna
  • Hemoglobin J
  • Globins