Natural history of C282Y homozygotes for hemochromatosis: DISCUSSION Part 5

In: Hemochromatosis

10 Jun 2012

HFE geneThe attribution of clinical symptoms in hemochromatosis has been difficult. For example, in a survey conducted during a study of arthralgia in patients with hemochromatosis, in women older than 60 years of age, more joint complaints were reported in the control population than in the patients with hemochromatosis. Fatigue and diabetes are also common complaints in the aging population. A recent population screening study concluded that the prevalence of clinical signs and symptoms in C282Y homozygotes was similar to that in a control population.
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We have not described the clinical features of iron overload in patients with idiopathic iron overload without HFE mutations. At the London Health Science Centre, this represents only 3% of cases, which are all are isolated, nonfa-milial cases that may represent a heterogeneous collection of etiologies, with iron overload as a common feature. As a result, the effectiveness of genetic counselling is speculative in this patient population. The proportion of people with non-HFE-related iron overload varies geographically, and this disorder has been most commonly described in Italians and Africans.


The prognosis of a young C282Y homozygote diagnosed before the development of cirrhosis or diabetes is excellent because the rate of survival does not differ from that of the general population. Unfortunately, the presence of symptoms is often associated with organ damage, which underscores the importance of early detection and prompt treatment. Large scale population screening projects are in progress in North America, Europe and Australia, which should resolve many of the controversies surrounding screening for hemochromatosis.

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