Olsson K S, Ritter B, Rosén U, Heedman P A, Staugård F
Acta Med Scand. 1983;213(2):145-50. doi: 10.1111/j.0954-6820.1983.tb03706.x.
An increase in the iron content of food may be harmful to people with genetic hemochromatosis. We studied the prevalence of this disorder in Sweden, which is the country with the world's highest iron fortification of food. Serum ferritin and transferrin (TIBC) saturation levels were used as initial screening methods. Three (0.5%) of 623 males aged 30-39 years were found to have genetic hemochromatosis. Family studies revealed 10 additional homozygotic family members. A prevalence of 0.5% of homozygotes (q2) implies a gene frequency (q) of 6.9% or a heterozygote frequency (2 x Q) of 13.8%. The high gene frequency may be explained by a possible genetic advantage of heterozygotes in the past. We conclude that idiopathic hemochromatosis is not as rare as previously thought. Affected persons should be detected and treated before irreversible organ damage occurs. This study demonstrates that serum ferritin levels together with TIBC saturation levels are adequate methods for screening populations.
食物中铁含量的增加可能对患有遗传性血色素沉着症的人有害。我们研究了瑞典这种疾病的患病率,瑞典是世界上食物铁强化程度最高的国家。血清铁蛋白和转铁蛋白(总铁结合力)饱和度水平被用作初步筛查方法。在623名30至39岁的男性中,有3人(0.5%)被发现患有遗传性血色素沉着症。家族研究又发现了10名纯合子家庭成员。纯合子患病率为0.5%(q2)意味着基因频率(q)为6.9%或杂合子频率(2×Q)为13.8%。这种高基因频率可能是由于过去杂合子可能具有的遗传优势。我们得出结论,特发性血色素沉着症并不像以前认为的那么罕见。应在不可逆转的器官损伤发生之前检测并治疗受影响的人。这项研究表明,血清铁蛋白水平与总铁结合力饱和度水平是筛查人群的适当方法。