Novel observations in hereditary hemochromatosis: potential implications for clinical strategies
نویسندگان
چکیده
منابع مشابه
Novel observations in hereditary hemochromatosis: potential implications for clinical strategies.
Remarkable advances in understanding the pathogenesis of hereditary hemochromatosis have been made since 1996, the year in which the HFE gene, which is responsible for the vast majority of cases, was discovered. The recognition of the central role of the iron regulatory hormone hepcidin in the pathogenesis of hereditary hemochromatosis has been particularly significant. In addition to HFE, defe...
متن کاملCLINICAL REVIEW Hereditary Hemochromatosis
Background: The understanding of hereditary hemochromatosis, along with the availability of genetic testing, is changing the approach to diagnosis of the disease. Methods: A MEDLINE search was performed using multiple key words related to hemochromatosis and iron metabolism. Results: Most cases of hereditary hemochromatosis are caused by a single mutation to the HFE gene, resulting in unregulat...
متن کاملHereditary hemochromatosis: genetics, pathogenesis, and clinical management.
Recent findings have led to major advances in our understanding of genetics and pathophysiology of hereditary hemochromatosis. Many crucial genes and molecules have come to light, and the complex interrelationships between them are being studied. However, several questions still remain unanswered. Availability of genotyping has changed the approach to diagnosis, and serum markers hold promise f...
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Hereditary hemochromatosis is definitively diagnosed based on liver biopsy findings.
متن کاملHereditary hemochromatosis.
Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body's regulation of iron. It is the most common genetic disease in whites. Men have a 24-fold increased rate of iron-overload disease compared with women. Persons who are homozygous for the HFE gene mutation C282Y comprise 85 to 90 percent of phenotypically affected persons. End-organ damage or clinical manifestati...
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ژورنال
عنوان ژورنال: Haematologica
سال: 2011
ISSN: 0390-6078,1592-8721
DOI: 10.3324/haematol.2011.042036