Beta-thalassemia mutations in Rome. A high frequency of the IVSII-745 allele in subjects of latium origin.
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.
Massa
A
A
Hematology-Oncology Laboratory, Istituto Superiore di Sanità, Rome, Italy.
Cianciulli
P
P
Cianetti
L
L
Iazzone
R
R
Cenci
A
A
Sorrentino
F
F
Franco
G
G
Pecci
G
G
Papa
G
G
Peschle
C
C
D000483:Alleles; D005787:Gene Frequency; D006801:Humans; D007558:Italy / Q000453:epidemiology; D009154:Mutation; D012384:Rome / Q000453:epidemiology; D017086:beta-Thalassemia / Q000453:epidemiology / Q000235:genetics*