HFE Hereditary Haemochromatosis - Terminology

Terminology

The term "haemochromatosis" is used by many different sources in many different ways.

It is often used to imply an association with the HFE gene. For many years, HFE was the only known gene associated with haemochromatosis, and the term "hereditary haemochromatosis" was used to describe haemochromatosis type 1. However, it is now known that there are many different genetic associations with this condition. The older the text, or the more general the audience, the more likely that HFE is implied.

The term "haemochromatosis" has also been in contexts where there had not been a known genetic association for the iron accumulation. However, it should be noted that in some cases, the understanding of a condition that was considered due to behaviour can be refined to accommodate new known genetic associations, as in African iron overload.

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