beta+ -Thalassemia intermedia. Genetic and biochemical study of a family including 3 cases

Hum Hered. 1980;30(5):324-30. doi: 10.1159/000153151.

Abstract

3 cases of thalassemia intermedia have been found in the same family. The parents are not consanguineous but both come from the same town of Calabria (Italia). The mother is a heterozygote for beta-thalassemia, as well as the father whose globin chain synthesis is nevertheless balanced, thus suggesting an association with alpha-thalassemia. This hypothesis is confirmed by the fact that one of the offspring shows the typical characteristics of alpha-thalassemia heterozygosity. The 3 subjects with thalassemia intermedia are synthesizing the beta-globin chain in a proportion higher than that expected from the level of Hb A in peripheral blood. In 2 of them, the globin chain biosynthetic ratio measured in the blood reticulocytes is not significantly different from that usually observed in thalassemia major of either the beta o or beta+ type. In the third subject the globin chain synthesis is slightly less unbalanced probably because an alpha-thalassemia is also present. This suggests that factors other than a lesser imbalance in globin chain synthesis are involved in the occurrence of thalassemia intermedia. One of these factors could be a better survival of cells richer in Hb F than in Hb A, since these cells must have a lesser excess of alpha-chains.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Female
  • Fetal Hemoglobin / genetics
  • Genetic Carrier Screening
  • Hemoglobin A / genetics
  • Hemoglobin A2 / genetics
  • Homozygote
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Thalassemia / blood
  • Thalassemia / genetics*

Substances

  • Hemoglobin A
  • Hemoglobin A2
  • Fetal Hemoglobin