Samii K, Darbellay R, Trachsel H, Beris P
Département de médecine interne, Hôpitaux universitaires de Genève.
Schweiz Med Wochenschr. 1997 Nov 8;127(45):1867-70.
A 45-year-old Greek patient was found to have a moderate iron overload (ferritin 1213 micrograms/l, serum iron 21.5 mumol/l, transferrin saturation 40%). He underwent 12 phlebotomies of 450 cc over an 8-year period and ferritin was normalized (267 micrograms/l) after the seventh. Study of the HLA-H gene in leukocyte DNA showed that the patient is homozygous for the His63Asp mutation while no modification was found at position 282. This case is compared with that of a 50-year-old Swiss male presenting a severe iron overload (ferritin 7660 micrograms/l, serum iron 36.5 mumol/l, transferrin saturation 97%). Although this patient has undergone 77 phlebotomies (450 cc each time) over a 2-year period, he continues to have a high ferritin level (2200 micrograms/l). HLA-H gene analysis showed the absence of codon 63 mutation and the presence of Cys282Tyr mutation in the homozygous state. The study of these two cases indicates that penetrance of the His63Asp mutation in the homozygous state is very low as compared to Cys282Tyr and results in moderate iron accumulation, probably without organ damage. This genotype must be looked for whenever moderate iron overload is present.
一名45岁的希腊患者被发现有中度铁过载（铁蛋白1213微克/升，血清铁21.5微摩尔/升，转铁蛋白饱和度40%）。他在8年期间接受了12次每次450毫升的放血治疗，第七次放血后铁蛋白恢复正常（267微克/升）。对白细胞DNA中的HLA - H基因研究表明，该患者His63Asp突变纯合，而在282位未发现修饰。将该病例与一名50岁瑞士男性的病例进行比较，后者有严重铁过载（铁蛋白7660微克/升，血清铁36.5微摩尔/升，转铁蛋白饱和度97%）。尽管该患者在2年期间接受了77次放血治疗（每次450毫升），但他的铁蛋白水平仍然很高（2200微克/升）。HLA - H基因分析显示不存在密码子63突变，存在纯合状态的Cys282Tyr突变。对这两个病例的研究表明，与Cys282Tyr相比，His63Asp突变纯合状态的外显率非常低，导致中度铁蓄积，可能无器官损害。只要存在中度铁过载，就必须寻找这种基因型。
