Serum ferritin as a possible marker of the hemochromatosis allele.
Serum ferritin as a possible marker of the hemochromatosis allele.
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血清铁蛋白作为血色素沉着病等位基因的可能标记。
DOI：
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发表时间：
1979
影响因子：
158.5
通讯作者：
M. Bourel
中科院分区：
文献类型：
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作者：
C. Beaumont;M. Simon;R. Fauchet;J. Hespel;P. Brissot;B. Genetet;M. Bourel
为了确定血色素沉着症的生化表达与HLA基因型之间是否存在相关性，我们研究了32名血色素沉着症患者的174名家庭成员。与先证者共享两种HLA单倍型者（并推测有两个血色病等位基因）与那些只有一个单倍型的人有显著差异（并且可能具有一个血色病等位基因）（两性P均小于0.001），不饱和铁结合力（女性P <0.01，男性P <0.0001）和血清铁蛋白（女性P <0.0001，男性P <0.00001）。具有一个血色病等位基因的亲属与年龄和性别匹配的对照组之间唯一的显着差异与男性受试者的血清铁蛋白值有关（尽管有相当多的重叠，但P <0.05）。在我们的手中，血清铁蛋白是铁代谢紊乱的最佳指标，在大多数纯合子家族成员中升高，但在少数杂合子家族成员中升高。
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.