Genetic haemochromatosis

Abstract

Genetic haemochromatosis (GH) is the UK’s most common genetic condition inherited in an autosomal recessive manner. It is an iron overload disorder, in which increased intestinal absorption of iron leads to deposition of iron in organs and tissues, most commonly the liver, heart, pancreas, and joints. GH often presents in an insidious manner, and as a result is significantly underdiagnosed. It is a multi-system disease, in which patient care involves various specialities, including primary care. This article will outline the inheritance, diagnosis, treatment and implications of GH and aims to raise awareness of the condition in general practice.