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The Southern French registry of genetic hemochromatosis: a tool for determination of clinical prevalence of the disorder and genotype penetrance

Correspondence: Patricia Aguilar-Martinez, CHU of Montpellier, Laboratory of Hematology, Hôpital Saint Eloi, Avenue Augustin Fliche, 34295 Montpellier Cedex 5, France. Phone: international +33.46733703. Fax: international +33.467337036. E-mail: p-martinez{at}chu-montpellier.fr

ABSTRACT

Background: Despite great progress in understanding the mechanisms underlying genetic hemochromatosis, data on the prevalence and the penetrance of the disorder are conflicting.

Design and methods: A registry of patients with genetic hemochromatosis was established in the South of France and a regional health network was developed to allow the inclusion of all the diagnosed patients. C282Y homozygous patients classified stages 2 (biological iron overload), 3 and 4 (clinical manifestations of iron overload, stage 4 being the most severe) according to the classification of the French National Authority for Health (HAS), were included in the registry over a 6 year period.

Results: A total of 352 symptomatic C282Y homozygotes were identified, resulting in a total prevalence of 1.83 per 10,000 [95%CI: 1.63 to 2.02] (2.40 per 10,000 among European [95% CI, 2.15 to 2.65] ) subjects over 20 years. Among Europeans, total calculated penetrance was 15.8% for stages 2 or higher, 12.1% in stages 3 or 4 and 2.9% in stage 4. The penetrance was slightly higher in males (18.7%) than in females (13.2%). It was 19.9% for individuals over 40 years of age (24.1% and 16.3% in males and females respectively) with a maximum of 31% between 50–54 years. Among 249 patients with complete records, 24% were stage 2, the majority (58%) were stage 3, and 18% stage 4. There was a higher proportion of males, and excessive alcohol intake was more prevalent in stage 4 than in stages 2 and 3 combined.

Conclusions: A French Mediterranean regional hemochromatosis registry with strict inclusion criteria is a useful tool for characterizing the history of the disease, particularly for the most severely affected patients, as defined by the disease severity classification. Total prevalence of symptomatic C282Y homozygotes in the region was found to be low. However, clinical penetrance (stages 3 and 4) was not negligible.

Key words: registry, HFE hemochromatosis, prevalence, penetrance.