Haematologica, Vol 79, Issue 3, 256-258
Copyright © 1994 by Ferrata Storti Foundation
Beta-thalassemia mutations in Rome. A high frequency of the IVSII-745 allele in subjects of latium origin
A Massa,
P Cianciulli,
L Cianetti,
R Iazzone,
A Cenci,
F Sorrentino,
G Franco,
G Pecci,
G Papa,
and
C Peschle
Hematology-Oncology Laboratory, Istituto Superiore di Sanita, Rome, Italy.
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.
