Beta-thalassemia mutations in Rome. A high frequency of the IVSII-745 allele in subjects of latium origin

Haematologica. 1994 May-Jun;79(3):256-8.

Abstract

We studied the molecular bases of beta-thalassemia in Rome, a city centrally located in Latium, which is a region with a low incidence of beta-carriers. People also come to Rome from other regions for specific or prenatal diagnostic assessment. Only 11 patients (20%) out of 62 characterized beta-thalassemia subjects were of Latium family origin. They presented five mutations with an uncommonly high frequency of the IVSII-745 allele, that was found in homozygosis in 4 unrelated patients from a southeastern area in the province of Frosinone. These data may indicate a founder effect.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Gene Frequency*
  • Humans
  • Italy / epidemiology
  • Mutation
  • Rome / epidemiology
  • beta-Thalassemia / epidemiology
  • beta-Thalassemia / genetics*