Simon M, Bourel M
Nouv Presse Med. 1979 Mar 17;8(13):1083-7.
The basic disorder of iron metabolism in idiopathic haemochromatosis finds expression on at least two levels: the intestinal mucosa (increased iron absorption) and the liver. Its exact nature, however, remains obscure. The role of iron overload in the pathogenesis of the disorder seems clear. Lysosome disruption has recently been proposed as a possible pathogenic factor. Phenotypic family studies have lent considerable weight to the hypothesis of a recessive transmission of idiopathic haemochromatosis. Demonstration of a close link between the disease and the HLA antigen A3 and haplotype A3, B14 has made it possible: to remove all doubt as to the hereditary nature of the disease; identify the underlying gene as located on chromosome 6 near the A locus of the HLA system; demonstrate a recessive mode of transmission; and achieve the early detection of individuals at risk in the family of a patient with the disease. Thanks to this possibility of early detection, the feasability of preventive measures is greatly enhanced.
肠黏膜（铁吸收增加）和肝脏。然而，其确切性质仍不清楚。铁过载在该疾病发病机制中的作用似乎很明确。最近有人提出溶酶体破坏是一种可能的致病因素。表型家族研究为特发性血色素沉着症隐性遗传的假说提供了相当有力的支持。该疾病与HLA抗原A3及单倍型A3、B14之间紧密联系的证明使得：消除了对该疾病遗传性质的所有疑问；确定潜在基因位于6号染色体上靠近HLA系统的A位点；证明其隐性遗传模式；并在患有该疾病患者的家族中对有风险的个体进行早期检测。由于这种早期检测的可能性，预防措施的可行性大大提高。
