Non-HFE hemochromatosis: genetics, pathogenesis, and clinical management.
Recent advances in our understanding of iron metabolism and the epidemiology of iron overload disorders have shown that hereditary forms of hemochromatosis can result from mutations in several iron metabolism genes other than HFE, including Hamp, HJV, TFR2, and SCL40A. These "non-HFE" forms of hemochromatosis are much rarer than HFE-related hemochromatosis but exhibit a similar phenotype, and with the exception of ferroportin disease, a similar pattern of inheritance and parenchymal iron accumulation. Therefore, these diseases can be thought of as variant forms of a primary hepatic iron overload syndrome; thus, a unified approach can be used for evaluation and diagnosis. Management generally consists of periodic phlebotomies until iron is depleted.
Nelson
James E
JE
Department of Medicine, Division of Gastroenterology, University of Washington Medical Center, 1959 NE Pacific Street, Box 356424, Seattle, WA 98195, USA.
Kowdley
Kris V
KV
D000293:Adolescent; D000328:Adult; D000367:Age Factors; D002648:Child; D005260:Female; D020022:Genetic Predisposition to Disease; D006432:Hemochromatosis / Q000235:genetics* / Q000401:mortality / Q000503:physiopathology / Q000628:therapy*; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000097:blood*; D019189:Iron Metabolism Disorders / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D018962:Phlebotomy / Q000379:methods*; D011379:Prognosis; D018570:Risk Assessment; D012737:Sex Factors; D016019:Survival Analysis; D016896:Treatment Outcome
C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins; D007501:Iron