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Haemochromatosis: Difference between revisions
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(Created page with "Haemochromatosis is characterised by accumulation of iron in the body, causing toxic iron deposition in multiple organs. The most commonly affected organs are the liver, heart, and pancreas. Hereditary haemochromatosis is the most common genetic disease of people with white ethnicity, especially in Northern Europe. It more frequently affects males >40 years. When it affects females, it occurs later than in men, as females lose iron through menstruation. == Etiology ==...") |
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Haemochromatosis is characterised by accumulation of iron in the body, causing toxic iron deposition in multiple organs. The most commonly affected organs are the liver, heart, and pancreas. | '''Haemochromatosis''' is a genetic disorder characterised by accumulation of iron in the body, causing toxic iron deposition in multiple organs. The most commonly affected organs are the liver, heart, and pancreas. | ||
Hereditary haemochromatosis is the most common genetic disease of people with white ethnicity, especially in Northern Europe. It more frequently affects males >40 years. When it affects females, it occurs later than in men, as females lose iron through menstruation. | Hereditary haemochromatosis is the most common genetic disease of people with white ethnicity, especially in Northern Europe. It more frequently affects males >40 years. When it affects females, it occurs later than in men, as females lose iron through menstruation. | ||
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Hereditary haemochromatosis is the most common form of haemochromatosis. It’s an autosomal recessive disease, most frequently caused by mutation in the HFE gene. The penetrance is low, and so only a few percent of those who are homozygotic for the gene develop disease. | Hereditary haemochromatosis is the most common form of haemochromatosis. It’s an autosomal recessive disease, most frequently caused by mutation in the HFE gene. The penetrance is low, and so only a few percent of those who are homozygotic for the gene develop disease. | ||
Haemochromatosis can also occur secondarily to excessive blood transfusions, which may occur due to severe anaemias like thalassaemia. | Haemochromatosis can also occur secondarily to excessive [[Blood transfusion|blood transfusions]], which may occur due to severe anaemias like [[thalassaemia]]. | ||
== Clinical features == | == Clinical features == | ||
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* [[Cirrhosis]] | * [[Cirrhosis]] | ||
* [[Cardiomyopathy]] | * [[Cardiomyopathy]] | ||
* Diabetes | * [[Diabetes mellitus]] | ||
* Grey/bronze discoloration of skin | * Grey/bronze discoloration of skin | ||