[Advances in hereditary hemochromatosis].
Hereditary hemocromatosis (HH) is a genetic disease with a recessive autosomic pattern, in which inadequate iron (Fe) absorption is made by the intestinal cell. As consequence of that process, takes place a progressive accumulation of metal in different organs, predominantly in the liver. This leads to an alteration of liver structure and function: cirrhosis and hepatocarcinoma (1). The gene implied in this pathology was identified (HFE) in 1996. This codes a similar molecule to the mayor histocompatibility complex type 1(MHC-T1 like) that can modulate the transport of PE binding the transferrin receptor. This progress allows a deep understanding of the molecular and cellular biology of the homeostasis of the Fe and its alterations in the NH. The diagnosis of disease by means of a genetic test let to carry out a familiar screening and to detect asymptomatic carriers. This makes possible to begin the appropriate treatment at early stages of the disease in order to avoid its consequences and offering a better quality of life to these patients.
Nardi
Graciela
G
Unidad de Gastroenterología, Hospital Pirovano, Monroe 3555, (1430) Buenos Aires, Argentina.
Cadiz
Claudia
C
Lachman
J
J
Cornelio
Cecilia
C
D005820:Genetic Testing; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics*; D015395:Histocompatibility Antigens Class I / Q000235:genetics; D006801:Humans
D015395:Histocompatibility Antigens Class I