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
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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