Beaumont C, Simon M, Fauchet R, Hespel J P, Brissot P, Genetet B, Bourel M
N Engl J Med. 1979 Jul 26;301(4):169-74. doi: 10.1056/NEJM197907263010401.
To determine whether a correlation exists between the biochemical expression of hemochromatosis and the HLA genotype, we studied 174 family members of 32 persons with the disease. Persons who shared both HLA haplotypes with the proband (and presumably having two hemochromatosis alleles) differed significantly from those who shared only one haplotype (and presumably having one hemochromatosis allele) in terms of serum iron (P less than 0.001 for both sexes), unsaturated iron-binding capacity (P less than 0.01 for female and P less than 0.0001 for male subjects) and serum ferritin (P less than 0.0001 for female and P less than 0.00001 for male subjects). The only significant difference between relatives having one hemochromatosis allele and age and sex-matched controls was related to serum ferritin values in male subjects (P less than 0.05, despite considerable overlap). In our hands, serum ferritin was the best indicator of disordered iron metabolism and was elevated among most homozygous but among few heterozygous family members.
为了确定血色素沉着症的生化表现与HLA基因型之间是否存在相关性，我们研究了32例该病患者的174名家庭成员。与先证者共享两个HLA单倍型（推测有两个血色素沉着症等位基因）的人在血清铁方面（男女P值均小于0.001）、不饱和铁结合能力方面（女性P值小于0.01，男性受试者P值小于0.0001）和血清铁蛋白方面（女性P值小于0.0001，男性受试者P值小于0.00001）与仅共享一个单倍型（推测有一个血色素沉着症等位基因）的人有显著差异。有一个血色素沉着症等位基因的亲属与年龄和性别匹配的对照组之间唯一显著的差异与男性受试者的血清铁蛋白值有关（尽管有相当大的重叠，但P值小于0.05）。在我们的研究中，血清铁蛋白是铁代谢紊乱的最佳指标，在大多数纯合子家庭成员中升高，但在少数杂合子家庭成员中也有升高。
