Deugnier Yves, Jouanolle Anne-Marie
Service des maladies du foie, Centre de dépistage familial de l'hémochromatose, CHU Pontchaillou, Rennes.
Presse Med. 2007 Sep;36(9 Pt 2):1292-4. doi: 10.1016/j.lpm.2006.12.037. Epub 2007 Jun 4.
Screening for hereditary HFE hemochromatosis in the general population, by either phenotype or genotype, is not currently recommended by the French High Health Authority. Targeted screening for hereditary HFE hemochromatosis in groups with specific diseases (people with asthenia, arthropathic disorders, liver or heart disease, etc.) has not been shown to be effective. Family screening in first-degree relatives of any proband homozygous for C282Y is strongly advised. This should involve both phenotypic screening, that is, testing for serum iron markers and, if possible, a genotype study of siblings and adult children, conducted according to the rules for genetic counseling and testing. This type of screening is cost-effective. One obstacle today is that the national health insurance fund does not reimburse the HFE test.
法国高级卫生管理局目前不建议通过表型或基因型对普通人群进行遗传性HFE血色素沉着症筛查。对患有特定疾病（如乏力、关节疾病、肝脏或心脏疾病等患者）群体进行遗传性HFE血色素沉着症的针对性筛查尚未显示出有效性。强烈建议对任何C282Y纯合先证者的一级亲属进行家族筛查。这应包括表型筛查，即检测血清铁标志物，并且如果可能的话，根据遗传咨询和检测规则对兄弟姐妹及成年子女进行基因型研究。这种筛查具有成本效益。目前的一个障碍是国家健康保险基金不报销HFE检测费用。
