Fauchet R, Lemignon L, Bourel M, Genetet B, Simon M
Pathol Biol (Paris). 1986 Jun;34(6):715-21.
Idiopathic hemochromatosis is an hereditary iron overload. The study of HLA types demonstrated clearly the linkage with HLA system. The preferential correlation established with A3 (72%) but other alleles were linked: B7, B14. HLA alleles were only the markers of hemochromatosis allele (H) and were not implicated in other iron overload. Family studied, defined two linked haplotypes: A3, Cw7, B7, Bw6, BfS, DR2, GLO1 et A3, Cw8, B14, Cw6, BfF, DRw6, GLO2. Demonstration of the recessive mode of inheritance was established by family studies. The affected siblings had the same HLA haplotype that the proband and homozygous or heterozygous expressed state was assessed in siblings. The HLA family types allowed to detect in 147 families 88 potential diseased patients among of them 73% had early blood-drawing.
特发性血色素沉着症是一种遗传性铁过载疾病。对HLA类型的研究清楚地证明了其与HLA系统的连锁关系。与A3（72%）建立了优先相关性，但其他等位基因也有连锁关系：B7、B14。HLA等位基因只是血色素沉着症等位基因（H）的标记，与其他铁过载无关。所研究的家族确定了两种连锁单倍型：A3、Cw7、B7、Bw6、BfS、DR2、GLO1和A3、Cw8、B14、Cw6、BfF、DRw6、GLO2。家族研究证实了隐性遗传模式。患病的兄弟姐妹具有与先证者相同的HLA单倍型，并对兄弟姐妹的纯合或杂合表达状态进行了评估。HLA家族类型使得在147个家族中检测出88名潜在患病患者，其中73%进行了早期采血。
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