Milman N, Graudal N, Nielsen L S, Sørensen S A
Dan Med Bull. 1985 Oct;32(5):262-4.
HLA-antigens were determined in 21 unrelated patients with idiopathic haemochromatosis and in eight siblings and 13 children of the probands. The prevalences of HLA-A3, B7, and B14 in patients compared to 1967 healthy control subjects were: A3, 76.2% versus 26.9% (p less than 0.0001); B7, 57.1% versus 26.8 (p less than 0.001); B14, 9.5% versus 4.5% (n.s.); A3 and B7, 42.9% versus 12.2% (p less than 0.0001); A3 and B14, 9.5% versus 1.4% (p less than 0.001). Siblings (n = 3) that were HLA-identical with the proband were considered to be homozygotes for the haemochromatosis allele and presented with preclinical haemochromatosis. Siblings and children (n = 17) having only one HLA-haplotype in common with the proband were considered to be heterozygotes. Biochemical markers for haemochromatosis (transferrin saturation and serum ferritin) were higher in homozygous than in heterozygous subjects (p less than 0.0001). The results confirm the association between the HLA-A and B loci and the haemochromatosis gene. HLA-typing is a valuable tool in the identification of the haemochromatosis genotype in a family, and it is an adjunct to the biochemical screening procedure in relatives of patients with this iron overload disorder.
对21例散发性特发性血色素沉着症患者以及8名先证者的同胞和13名子女进行了HLA抗原检测。与1967名健康对照者相比，患者中HLA - A3、B7和B14的发生率分别为：A3，76.2% 对26.9%（p＜0.0001）；B7，57.1% 对26.8%（p＜0.001）；B14，9.5% 对4.5%（无显著差异）；A3和B7，42.9% 对12.2%（p＜0.0001）；A3和B14，9.5% 对1.4%（p＜0.001）。与先证者HLA相同的3名同胞被认为是血色素沉着症等位基因的纯合子，并表现为临床前血色素沉着症。仅与先证者有一个HLA单倍型相同的同胞和子女（共17名）被认为是杂合子。血色素沉着症的生化指标（转铁蛋白饱和度和血清铁蛋白）在纯合子中高于杂合子（p＜0.0001）。结果证实了HLA - A和B位点与血色素沉着症基因之间的关联。HLA分型是确定家族性血色素沉着症基因型的一项有价值的工具，并且是对这种铁过载疾病患者亲属进行生化筛查程序的辅助手段。
