法国南部遗传性血色素沉着症登记处：一种用于确定该疾病临床患病率和基因型外显率的工具。
The Southern French registry of genetic hemochromatosis: a tool for determining clinical prevalence of the disorder and genotype penetrance.
机构信息
CHU of Montpellier Laboratory of Hematology, Hôpital Saint Eloi, Avenue Augustin Fliche, 34295 Montpellier Cedex 5, France.
出版信息
Haematologica. 2010 Apr;95(4):551-6. doi: 10.3324/haematol.2009.014431. Epub 2010 Feb 9.
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 in stages 2 (biological iron overload), 3 and 4 (clinical manifestations of iron overload, stage 4 being the more severe) according to the classification of the French National Authority for Health 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) in subjects over 20 years and 2.40 per 10,000 (95% CI, 2.15 to 2.65) among subjects of European descent. Among Europeans, the total calculated penetrance was 15.8% in stage 2 or higher, 12.1% in stage 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% in subjects between 50 and 54 years old. Among 249 patients with complete records, 24% were in stage 2, the majority (58%) were in stage 3, and 18% in 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 this disease, particularly for the most severely affected patients, as defined by the disease severity classification. The total prevalence of symptomatic C282Y homozygotes in the region was found to be low. However, clinical penetrance (stages 3 and 4) was not negligible.
背景
尽管人们在理解遗传性血色素沉着症发病机制方面取得了重大进展，但有关该疾病的患病率和外显率的数据仍存在争议。
方法和设计
在法国南部建立了遗传性血色素沉着症患者登记处，并建立了一个区域卫生网络，以纳入所有确诊的患者。根据法国国家卫生管理局的分类，将 282 位 C 等位基因纯合子患者（根据疾病严重程度分类，分为 2 期（生物学铁过载）、3 期和 4 期（铁过载临床表现，4 期更严重））登记在册，为期 6 年。
结果
共发现 352 例有症状的 282 位 C 等位基因纯合子患者，20 岁以上人群的总患病率为每 10000 人 1.83 例（95%可信区间：1.63 至 2.02），欧洲裔人群为每 10000 人 2.40 例（95%可信区间：2.15 至 2.65）。在欧洲人群中，2 期或以上的总计算外显率为 15.8%，3 期或 4 期为 12.1%，4 期为 2.9%。男性的外显率（18.7%）略高于女性（13.2%）。40 岁以上人群的外显率为 19.9%（男性分别为 24.1%和 16.3%，女性分别为 19.9%和 16.3%），50 至 54 岁人群的外显率最高为 31%。在 249 例有完整记录的患者中，24%处于 2 期，大多数（58%）处于 3 期，18%处于 4 期。4 期患者中男性比例较高，过量饮酒在 4 期比 2 期和 3 期更常见。
结论
一个具有严格纳入标准的法国地中海地区血色素沉着症登记处是一个有用的工具，可以用于描述该疾病的病史，特别是对于根据疾病严重程度分类定义的最严重的患者。该地区有症状的 282 位 C 等位基因纯合子的总患病率较低。然而，临床外显率（3 期和 4 期）不容忽视。
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