匈牙利特发性血色素沉着症患者的人类白细胞抗原（HLA）抗原
HLA antigens in Hungarian patients with idiopathic haemochromatosis.
作者信息
Czìnk E, Gyódi E K, Német K, Hollán S
机构信息
National Institute of Haematology and Blood Transfusion, Budapest, Hungary.
出版信息
J Clin Pathol. 1991 Jan;44(1):79-81. doi: 10.1136/jcp.44.1.79.
Thirteen unrelated patients with idiopathic haemochromatosis (eight men, five women) were studied. The diagnosis was based on clinical, biological, and histochemical findings. HLA typing was performed in all 13 and in all of their available first degree relatives (n = 31). HLA A3 was present in nine of 13 probands (69.2% compared with 18.8% in the group of 53 healthy blood donors and 22.4% in a selected Hungarian population (n = 1910). HLA B7 was present in five of 13 probands (38.4% compared with 11.3% and 14.6%). An A3B7 antigen association was found in five of 13 patients. The A3B7 haplotype was found in three, A2B12 and A2B38 haplotypes were found twice in 10 genotyped probands. Pedigree studies showed that there was one unaffected homozygote, 24 heterozygotes, and six non-carriers. Extended family and population studies are necessary to establish the prevalence of the gene in Hungary and an association with haplotypes other than A3B7.
对13例非亲缘关系的特发性血色素沉着症患者（8名男性，5名女性）进行了研究。诊断基于临床、生物学和组织化学检查结果。对所有13例患者及其所有可及的一级亲属（n = 31）进行了HLA分型。13例先证者中有9例存在HLA - A3（占69.2%，相比之下，53名健康献血者组中为18.8%，在一个选定的匈牙利人群（n = 1910）中为22.4%）。13例先证者中有5例存在HLA - B7（占38.4%，相比之下，健康献血者组中为11.3%，匈牙利人群中为14.6%）。在13例患者中有5例发现A3B7抗原关联。在10例进行基因分型的先证者中，发现3例存在A3B7单倍型，A2B12和A2B38单倍型各发现2次。系谱研究显示有1例未受影响的纯合子、24例杂合子和6例非携带者。有必要进行扩展家系和人群研究，以确定该基因在匈牙利的患病率以及与A3B7以外的单倍型的关联。
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