Haemochromatosis

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In medicine, iron overload indicates accumulation of iron in the body due to any cause.

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Terminology

Haemochromatosis or haemosiderosis

Historically, the term haemochromatosis (spelled hemochromatosis in American English) was initially used to refer to what is now more specifically called haemochromatosis type 1 (or HFE-related hereditary haemochromatosis). Currently, haemochromatosis (without further specification) is mostly defined as iron overload with a hereditary/primary cause,[1][2] or originating from a metabolic disorder.[3] However, the term is currently also used more broadly to refer to any form of iron overload, thus requiring specification of the cause, for example hereditary haemochromatosis. Hereditary haemochromatosis is an autosomal recessive disease with estimated prevalence in the population of 2 in 1,000 in Caucasians, with lower incidence in other races. The gene responsible for hereditary haemochromatosis (known as HFE gene) is located on chromosome 6; the majority of hereditary haemochromatosis patients have mutations in this HFE gene. Hereditary haemochromatosis is characterized by an accelerated rate of intestinal iron absorption and progressive iron deposition in various tissues that typically begins to be expressed in the third to fifth decades of life, but may occur in children. The most common presentation is hepatic cirrhosis in combination with hypopituitarism, cardiomyopathy, diabetes, arthritis, or hyperpigmentation. Because of the severe sequelae of this disease if left untreated and recognizing that treatment is relatively simple, early diagnosis before symptoms or signs appear is important.[4][5]

The term haemosiderosis is generally used to indicate the pathological effect of iron accumulation in any given organ, which mainly occurs in the form of haemosiderin.[6][7] Sometimes, the simpler term siderosis is used instead.

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