Compound heterozygosity for two genotypes of alpha-thalassemia-2: hematological, biosynthetic and DNA studies

Hemoglobin. 1985;9(2):111-26. doi: 10.3109/03630268508996994.

Abstract

Hemoglobin and DNA gene analyses were carried out in two Black Canadian families. In Family Q, both the parents and the brother were found to be heterozygotes for alpha-thalassemia-2 with the following alpha-genotypes: -alpha 3.7/alpha alpha, -alpha 4.2/alpha alpha and -alpha 4.2/alpha alpha, respectively. In Family C, the mother was found to be a homozygote for alpha-thalassemia-2 with the alpha-genotype of -alpha 3.7/-alpha 3.7. In both families, the propositi were compound heterozygotes for alpha-thalassemia-2 with the alpha-genotype of -alpha 3.7/-alpha 4.2. The propositus in Family C was also a sickle cell trait carrier. The usefulness of DNA gene analyses in family studies of hemoglobinopathy was discussed.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • DNA / analysis*
  • Erythrocytes / pathology
  • Genotype
  • Hemoglobins / analysis
  • Heterozygote*
  • Humans
  • Infant
  • Male
  • Pedigree
  • Thalassemia / blood
  • Thalassemia / genetics*
  • Thalassemia / metabolism
  • Thalassemia / pathology

Substances

  • Hemoglobins
  • DNA