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 ...
متن کاملHereditary haemochromatosis
The May issue of the BJGP made my mouth fall open with disbelief. What was the leading article about?1 The latest NSF? The GPC resignation ballot? The Shipman inquiry? The recent spate of TB outbreaks? The RCGP’s ideas about GP specialists and intermediate care? 24/48 hour access? NICE and the relevance of its guidance to Primary Care? What to do with your free copy of Clinical Evidence? No. It...
متن کاملScreening 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...
متن کاملGeneralized pruritus revealing hereditary haemochromatosis.
277 Letters to the Editor Sir, Hereditary haemochromatosis (HH) is an autosomal recessive disorder characterized by iron accumulation in various organs of the body (1). Pruritus has seldom been reported as a disclosing symptom of iron overload without cholestasis (2–3). We present here a case of generalized pruritus that revealed HH and was improved by regular phlebotomies. A 47-year-old woman ...
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ژورنال
عنوان ژورنال: European Journal of Haematology
سال: 2009
ISSN: 0902-4441,1600-0609
DOI: 10.1111/j.1600-0609.1989.tb01200.x