Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration?
نویسندگان
چکیده
منابع مشابه
Hereditary haemochromatosis.
Haemochromatosis should currently refer to hereditary iron overload disorders presenting with a definite and common phenotype characterised by normal erythropoiesis, increased transferrin saturation and ferritin and primarily parenchymal iron deposition related to innate low (but normally regulated) production of the hepatic peptide hormone hepcidin. Since the discovery of the haemochromatosis ...
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15 صفحه اولScreening for hereditary haemochromatosis.
Hereditary haemochromatosis (HH) is a common autosomal recessive disorder of iron overload in Caucasian populations. Clinical manifestations usually occur in individuals homozygous for the C282Y mutation in the HFE gene product and who have developed significant iron loading. Current screening methods can detect affected individuals either prior to or early during disease evolution, enabling ea...
متن کاملNon HFE related hereditary haemochromatosis.
Hereditary hemochromatosis (HH) is manifested as iron overload in different organs due to homozygosity of a single autosomal mutation. Two different mutations C282Y and H63D in the HFE gene have been associated with hereditary hemochromatosis cases. This disease is seen in northern european populations, but in India it is a rare disease. We report a young male with severe abnormalty of liver fu...
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ژورنال
عنوان ژورنال: Gut
سال: 2002
ISSN: 0017-5749
DOI: 10.1136/gut.51.1.108