Beta-thalassemia mutations in Rome. A high frequency of the IVSII-745 allele in subjects of latium origin.
Haematologica
; 79(3): 256-8, 1994.
Article
em En
| MEDLINE
| ID: mdl-7926974
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Talassemia beta
/
Frequência do Gene
Limite:
Humans
País/Região como assunto:
Europa
Idioma:
En
Revista:
Haematologica
Ano de publicação:
1994
Tipo de documento:
Article
País de afiliação:
Itália