Haemochromatosis

Is a condition in which the body takes in too much iron.


Iron overload; excessive absorption and storage of iron in the body, commonly the result of a genetic defect. In most cases it is caused by a recessive gene i.e. it can only be passed on if both parents are carriers of the gene predisposing to the disorder. Around one in seven people in northern Europe are carriers of the recessive gene. Homozygotes are susceptible to iron toxicity from high absorption of dietary iron which can lead to tissue damage (including liver cancer, heart disease and diabetes) and bronze coloration of the skin. Sometimes called bronze diabetes. The disorder is usually treated by regular venesection, a procedure similar to blood donation, where around 500 ml of blood is removed.


An inherited disease in which the body absorbs and stores too much iron, causing cirrhosis of the liver and giving the skin a dark colour.


A disease in which cirrhosis of the liver, enlargement of the spleen, pigmentation of the skin, and diabetes mellitus are associated with the abnormal and excessive deposit in the organs of the body of the iron-containing pigment, haemosiderin. It is caused by an increase in the amount of iron absorbed from the gastrointestinal tract.


Hereditary hemochromatosis is a genetic disorder characterized by the excessive absorption of dietary iron. The surplus iron progressively accumulates in various organs such as the liver, pancreas, heart, testes, and others. Men are more commonly affected by this condition than women, as women regularly lose iron through menstrual blood.


Haemochromatosis usually remains asymptomatic until middle age. The initial signs often include a decrease in sex drive and testicular shrinkage. Over time, the accumulation of excess iron leads to liver enlargement and cirrhosis (chronic liver damage). This condition can also result in diabetes mellitus, bronzed skin coloration (due to iron pigment deposition in the skin), cardiac arrhythmia, and, in severe cases, liver failure and liver cancer.


The diagnosis of haemochromatosis relies on blood tests and a liver biopsy (removal of a small tissue sample for analysis). The primary treatment method is venesection, which involves the withdrawal of blood from a vein. Initially, the procedure is performed weekly to reduce iron levels. Once iron levels have normalized, venesection is needed less frequently.


 


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