Chronic heart failure

December 2010


Hereditary haemochromatosis

Diagnosis and management

Volume 39, No.12, December 2010 Pages 938-941

Katie Allen


Hereditary haemochromatosis is a common inherited disorder in which excessive iron is absorbed and which, over time, may cause organ damage. Genetic predisposition leads to disease in some but not all cases.


This article discusses the presentation, testing, treatment and management of hereditary haemochromatosis.


Hereditary haemochromatosis is autosomal recessive and is more common in people of Celtic or northern European descent. Although more than 90% of cases of hereditary haemochromatosis are due to C282Y homozygosity (carrying two copies of the C282Y gene) not all C282Y homozygous individuals will progress through all stages of disease development. Clinical disease is less common in females due to physiological blood loss from menstruation and pregnancy. Most importantly, early diagnosis and treatment of hereditary haemochromatosis prevents complications and results in a normal life expectancy. Venesection is a simple and effective way to both prevent and manage the potential sequelae of iron overload, which include severe fatigue, arthritis, impotence, raised alanine aminotransferase/aspartate aminotransferase, fibrosis or cirrhosis, diabetes, and cardiomyopathy.

After the discovery of the HFE gene in 19961 it was initially believed that every individual with two abnormal copies of the gene (C282Y homozygote) would develop iron overload related disease, consistent with haemochromatosis. Haemochromatosis is defined as iron overload leading to end organ damage through the interaction between environmental and genetic factors and not the presence of genetic predisposition.

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