Genetic hemochromatosis update.
Hereditary Hemochromatosis is an autosomal recessive disease, characterized by chronic iron overload. It is mainly due to mutations of the HFE-1 gene. In the large majority of patients, the substitution of tyrosine for cysteine at amino acid 282 (C282Y) is found at the homozygous state. Since the HFE-1 hemochromatosis identification, several other entities of iron overload have been individualized. In the present article, the frequency, penetrance and pathophysiology of HFE-1 hemochromatosis as well as various clinical presentations resulting from different mutations affecting different proteins involved in iron metabolism are described.
Brissot
P
P
Service des Maladies du Foie et INSERM U-522, CHRU Pontchaillou, France. Pierre.brissot@univ-rennes1.fr
Le Lan
C
C
Lorho
R
R
Gaboriau
F
F
Lescoat
G
G
Loréal
O
O
D000328:Adult; D005260:Female; D005786:Gene Expression Regulation; D020022:Genetic Predisposition to Disease; D006432:Hemochromatosis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008967:Molecular Biology; D009154:Mutation; D011379:Prognosis; D011990:Receptors, Transferrin / Q000235:genetics*; D018570:Risk Assessment; D012720:Severity of Illness Index
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D011990:Receptors, Transferrin; C503640:TFR2 protein, human