منابع مشابه
Haemochromatosis.
Haemochromatosis is now known to be an iron-storage disease with genetic heterogeneity but with a final common metabolic pathway resulting in inappropriately low production of the hormone hepcidin. This leads to increase in intestinal absorption and deposition of excessive amounts of iron in parenchymal cells which in turn results in eventual tissue damage and organ failure. A clinical enigma h...
متن کاملHereditary 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 کاملGenetics of haemochromatosis.
After identification of the hereditary haemochromatosis gene HFE, and receipt of confirmation that most patients with the condition were homozygous for a single, founder mutation (C282Y), most assumed that C282Y would be a prevalent, highly penetrant mutation in a gene that plays a key part in the regulation of iron absorption and of whole-body iron homoeostasis. With carrier rates of between 1...
متن کاملIncomplete penetrance of MHC
We propose an approach to understanding incomplete penetrance of disease susceptibility genes as a method of studying the underlying mechanisms of polygenic diseases. Incomplete penetrance is the failure of genetically susceptible individuals to exhibit a trait. We define as baseline penetrance that which occurs in genetically identical (monozygotic) twins of an index subject with a major histo...
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ژورنال
عنوان ژورنال: Gut
سال: 2003
ISSN: 0017-5749
DOI: 10.1136/gut.52.4.610-a