[Molecular basis in hereditary haemochromatosis]. / Bases moléculaires des hémochromatoses génétiques.
Rev Med Interne
; 26(5): 393-402, 2005 May.
Article
em Fr
| MEDLINE
| ID: mdl-15893030
ABSTRACT
PURPOSE:
Recent discoveries in molecular mechanisms of iron metabolism have changed the classical view of hereditary iron overload conditions. We present natural mutations in newly discovered genes and related phenotypes observed in patients with different form of haemochromatosis. CURRENT KNOWLEDGE AND KEY POINTS Most haemochromatosis patients are homozygous for the C282Y mutation in the HFE gene. Ferroportin, TFR2, hemojuvelin and hepcidin mutations also cause iron overload. Recent data support the hypothesis that haemochromatosis should no longer be considered a monogenic disease but rather an oligogenic disorder. Several results suggest that haemochromatosis could result from digenic inheritance of mutations in HFE and HAMP. FUTURE PROSPECTS AND PROJECTS Other modifier genes probably influence penetrance in C282Y homozygous patients. Such genes could enhance or reduce the phenotypic expression in various iron overload conditions.
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Base de dados:
MEDLINE
Assunto principal:
Hemocromatose
Limite:
Humans
Idioma:
Fr
Revista:
Rev Med Interne
Ano de publicação:
2005
Tipo de documento:
Article
País de afiliação:
França