Clinical case of hereditary hemochromatosis
نویسندگان
چکیده
منابع مشابه
CLINICAL 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...
متن کاملHereditary hemochromatosis.
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...
متن کاملHereditary hemochromatosis
of terms of the Creative Commons Attribution Non-Commercial License which permits unrestricted noncommercial use, distribution, and reproduction in any medium provided article is properly cited. a Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California, Los Angeles/CA USA. b Department of Pathology and Laboratory Medicine Weill Cornell Medical Co...
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ژورنال
عنوان ژورنال: Kazan medical journal
سال: 2018
ISSN: 2587-9359,0368-4814
DOI: 10.17816/kmj2018-998