Clinical features: Classic hereditary haemochromatosis is one of the most common genetic disorders. It is characterised by an inappropriately high absorption of dietary iron through the gut wall. This iron becomes deposited in a number of different organs, mainly the liver, but also the pancreas, heart, endocrine glands, and joints. Many individuals remain asymptomatic throughout their lifetime, despite haemochromatosis being confirmed by genetic testing. However in may cases males will become symptomatic between 40 and 60 years of age and in females after the menopause. These symptoms are often vague and include abdominal pain, weakness, lethargy, and weight loss. This means that a high index of suspicion is essential before the diagnosis can be made and treatment initiated. This includes therapeutic phlebotomy, dietary restriction of iron and avoidance of alcohol if there are hepatic signs. Without treatment the disease may progress to cause an increase in skin pigmentation, cirrhosis of the liver, diabetes mellitus, congestive heart failure, arrhythmias, arthritis and hypogonadism.
Incidence: The prevalence of individuals with two variant HFE (see below) mutations in the Caucasian population is between 1/200 and 1/400. This means the carrier frequency is between 1/8 and 1/10.
Inheritance : Autosomal recessive.
Gene: Classic haemochromatosis is caused by mutations in the HFE gene on chromosome 6. There are two common mutations known as C282Y and H63D. Up to 95% of affected individuals have two copies of one of these mutations or a copy of each. The C282Y mutation is more likely to lead to clinical symptoms.
Carrier testing: Possible if mutations identified in affected family members.
Presymptomatic testing: By DNA testing if the mutation has been identified in affected individuals, otherwise by measurement of biochemical parameters suggesting iron overload.
UK Support Group: Haemochromatosis Society Hollybush House Hadley Green Barnet EN5 5PR Tel: 020 8449 1363 Fax: 020 8449 1363
If you would like further information on hereditary haemochromatosis please go to either:-
The Least You Need to Know Coffee Break Summary Pitfalls to Avoid Find Out More Clinical Scenarios at Genepool - Hereditary haemochromatosis
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