Prevalence of the C282Y mutation in Brittany: penetrance of genetic hemochromatosis?
Ann Genet
; 41(4): 195-8, 1998.
Article
en En
| MEDLINE
| ID: mdl-9881181
ABSTRACT
Hemochromatosis (GH) is an inborn error of iron metabolism, characterized by progressive iron loading that, if untreated, causes high morbidity and death. The gene responsible for the disease (HFE), located 4.5 megabases telomeric to the HLA-A locus, encodes a protein homologous to class I MHC molecules. A main mutation, C282Y, has been identified within the gene. Although hemochromatosis is considered as the most frequent inherited disease in the populations of Northern European origin, its prevalence in Brittany had not been evaluated yet. In this issue we report the C282Y mutation frequency in a cohort of 1000 newborns from maternity hospitals of the four breton départements. The homozygote frequency was 5/1000 and heterozygote frequency was 12%; such high frequencies raise the question of the penetrance of the disease and the relevance of systematic genotypic screening for hemochromatosis.
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Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Penetrancia
/
Hemocromatosis
/
Proteínas de la Membrana
Tipo de estudio:
Etiology_studies
/
Incidence_studies
/
Observational_studies
/
Prevalence_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Humans
/
Newborn
País/Región como asunto:
Europa
Idioma:
En
Revista:
Ann Genet
Año:
1998
Tipo del documento:
Article
País de afiliación:
Francia