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

Author

Massa A, Cianciulli P, Cianetti L, Iazzone R, Cenci A, Sorrentino F, Franco G, Pecci G, Papa G, and Peschle C

Subjects
Alleles, Humans, Italy epidemiology, Mutation, Rome epidemiology, beta-Thalassemia epidemiology, Gene Frequency, beta-Thalassemia genetics
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.

Published
1994

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