Severity of beta-thalassemia due to genotypes involving the IVS-I-6 (T-->C) mutation

Am J Hematol. 1995 Sep;50(1):15-9. doi: 10.1002/ajh.2830500104.

Abstract

Among individuals of Mediterranean or Middle Eastern descent, the IVS-I-6 (T-->C) mutation is one of the most common causes of beta-thalassemia. In this report, we describe the clinical phenotypes of a group of beta-thalassemia patients who are compound heterozygotes for the relatively mild IVS-I-6 (T-->C) beta-thalassemia mutation and more severe beta(+)- or beta (0)-thalassemia mutations. Although most of these patients are transfusion-dependent, the requirement for regular transfusions generally occurred late in childhood. A correlation between concomitant alpha-thalassemia and a mild transfusion-independent phenotype is not apparent, indicating the involvement of other ameliorating determinants.

Publication types

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

MeSH terms

  • Adult
  • Child
  • Child, Preschool
  • Chromosome Mapping
  • Family
  • Female
  • Globins / genetics*
  • Humans
  • Italy / epidemiology
  • Male
  • Point Mutation
  • beta-Thalassemia / epidemiology
  • beta-Thalassemia / genetics*

Substances

  • Globins