Relationship between genotype and phenotype. Thalassemia intermedia

Ann N Y Acad Sci. 1998 Jun 30:850:325-33. doi: 10.1111/j.1749-6632.1998.tb10489.x.

Abstract

Thalassemia intermedia encompasses a number of clinical conditions ranging in severity from beta-thalassemia carrier state to transfusion-dependent thalassemia major. The molecular bases of thalassemia intermedia, only partially defined, are very heterogeneous, but in general any factor able to reduce the globin-chain imbalance results in a milder form of thalassemia. These factors are the presence of a silent or mild beta-thalassemia allele, associated with a high residual beta-globin production, and the coinheritance of alpha-thalassemia or of genetic determinants that increase the gamma-chain production. Less frequent mechanisms are double heterozygosity for beta-thalassemia and triplicated alpha genes, and the presence of a hyperunstable hemoglobin variant. However, for a consistent number of beta zero-thalassemia homozygotes with a thalassemia intermedia phenotype the modifying factor has not been defined yet. In contrast, there are simple beta-thalassemia carriers who, for unknown reasons, have an unusually severe clinical phenotype.

Publication types

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

MeSH terms

  • Blood Transfusion
  • Female
  • Genotype
  • Globins / genetics*
  • Heterozygote
  • Humans
  • Male
  • Mutation*
  • Pedigree
  • Phenotype
  • Point Mutation
  • alpha-Thalassemia / complications
  • alpha-Thalassemia / genetics
  • alpha-Thalassemia / therapy
  • beta-Thalassemia / complications
  • beta-Thalassemia / genetics*
  • beta-Thalassemia / therapy

Substances

  • Globins

Grants and funding