生物谷报道:血色病是非常常见的一种血液病,能使人体血液中铁的吸收量比正常人高三倍。研究人员发现,如果不加以治疗,患有血色病的男性将因体内铁过量而发病,包括肝癌、关节炎和其它并发症。
血色病由于它的早期症状与其它疾病非常类似,因此不易诊断。其治疗方法一般是更换血液。每300到400人中就有一个人患有血色病,在西欧是一种极其普通的疾病,尤其是在爱尔兰,苏格兰,威尔士和英格兰人后裔中非常常见。
墨尔本默多克儿童研究院(Melbourne's Murdoch Children's Research Institute)的科学家们说,血色病能够导致多种疾病,比以前研究得到显示的要多。
Katrina Allen主持这项研究,他们使用C282Y作为血色病的遗传标记。当一个人是C282Y纯合子时,即从父母身上各遗传得到一份C282Y拷贝,他就是血色病易感的。Allen说,及早治疗血色病,可以避免铁积聚带来的损伤(多出现在中年人身上)。
对随机挑选的1438成年人进行12年的跟踪观察,其中108个女性和95个男性从父母身上遗传了称为HFE的缺陷基因,她们更容易从食物中吸收铁而造成铁过量。
研究小组发现,30%有血色病遗传易感性的男性,其组织和器官的铁超量,从而导致疾病的发生,包括肝癌和关节炎。而女性只有1.2%会出现上述的铁过量和疾病。
研究人员说,女性比男性的并发症更少,是因为妇女在经和怀孕时血液和铁的流失,以及她们的铁积聚速率更低的缘故。
据美国疾病控制和预防中心(Centers for Disease Control and Prevention,CDC)的资料,血色病的早期症状包括疲劳,虚弱,体重减轻,腹痛和关节痛。CDC的资料说,如果患者在器官损伤之前开始治疗,那么就能够正常地生活,寿命不会缩短。
该研究结果发表在2008年1月17日的《新英格兰医学》杂志上。
生物谷推荐原始出处:
N Engl J Med
Volume 358:221-230 January 17, 2008 Number 3
Iron-Overload–Related Disease in HFE Hereditary Hemochromatosis
Katrina J. Allen, M.D., Ph.D., Lyle C. Gurrin, Ph.D., Clare C. Constantine, Ph.D., Nicholas J. Osborne, Ph.D., Martin B. Delatycki, M.D., Ph.D., Amanda J. Nicoll, M.D., Ph.D., Christine E. McLaren, Ph.D., Melanie Bahlo, Ph.D., Amy E. Nisselle, B.Sc., Chris D. Vulpe, M.D., Ph.D., Gregory J. Anderson, Ph.D., Melissa C. Southey, Ph.D., Graham G. Giles, Ph.D., Dallas R. English, Ph.D., John L. Hopper, Ph.D., John K. Olynyk, M.D., Lawrie W. Powell, M.D., Ph.D., and Dorota M. Gertig, M.D., D.Sc.
Background Most persons who are homozygous for C282Y, the HFE allele most commonly asssociated with hereditary hemochromatosis, have elevated levels of serum ferritin and transferrin saturation. Diseases related to iron overload develop in some C282Y homozygotes, but the extent of the risk is controversial.
Methods We assessed HFE mutations in 31,192 persons of northern European descent between the ages of 40 and 69 years who participated in the Melbourne Collaborative Cohort Study and were followed for an average of 12 years. In a random sample of 1438 subjects stratified according to HFE genotype, including all 203 C282Y homozygotes (of whom 108 were women and 95 were men), we obtained clinical and biochemical data, including two sets of iron measurements performed 12 years apart. Disease related to iron overload was defined as documented iron overload and one or more of the following conditions: cirrhosis, liver fibrosis, hepatocellular carcinoma, elevated aminotransferase levels, physician-diagnosed symptomatic hemochromatosis, and arthropathy of the second and third metacarpophalangeal joints.
Results The proportion of C282Y homozygotes with documented iron-overload–related disease was 28.4% (95% confidence interval [CI], 18.8 to 40.2) for men and 1.2% (95% CI, 0.03 to 6.5) for women. Only one non-C282Y homozygote (a compound heterozygote) had documented iron-overload–related disease. Male C282Y homozygotes with a serum ferritin level of 1000 µg per liter or more were more likely to report fatigue, use of arthritis medicine, and a history of liver disease than were men who had the wild-type gene.
Conclusions In persons who are homozygous for the C282Y mutation, iron-overload–related disease developed in a substantial proportion of men but in a small proportion of women.