生物谷報道：血色病是非常常見的一種血液病,，能使人體血液中鐵的吸收量比正常人高三倍,。研究人員發(fā)現(xiàn)，如果不加以治療,，患有血色病的男性將因體內(nèi)鐵過量而發(fā)病,，包括肝癌、關(guān)節(jié)炎和其它并發(fā)癥,。
血色病由于它的早期癥狀與其它疾病非常類似,，因此不易診斷,。其治療方法一般是更換血液。每300到400人中就有一個人患有血色病,，在西歐是一種極其普通的疾病,，尤其是在愛爾蘭，蘇格蘭,，威爾士和英格蘭人后裔中非常常見,。
墨爾本默多克兒童研究院（Melbourne's Murdoch Children's Research Institute）的科學家們說，血色病能夠?qū)е露喾N疾病,，比以前研究得到顯示的要多,。
Katrina Allen主持這項研究，他們使用C282Y作為血色病的遺傳標記,。當一個人是C282Y純合子時,，即從父母身上各遺傳得到一份C282Y拷貝，他就是血色病易感的,。Allen說,，及早治療血色病，可以避免鐵積聚帶來的損傷（多出現(xiàn)在中年人身上）,。
對隨機挑選的1438成年人進行12年的跟蹤觀察,，其中108個女性和95個男性從父母身上遺傳了稱為HFE的缺陷基因，她們更容易從食物中吸收鐵而造成鐵過量,。
研究小組發(fā)現(xiàn),，30%有血色病遺傳易感性的男性，其組織和器官的鐵超量,，從而導(dǎo)致疾病的發(fā)生,，包括肝癌和關(guān)節(jié)炎。而女性只有1.2%會出現(xiàn)上述的鐵過量和疾病,。
研究人員說,，女性比男性的并發(fā)癥更少，是因為婦女在經(jīng)和懷孕時血液和鐵的流失,，以及她們的鐵積聚速率更低的緣故,。
據(jù)美國疾病控制和預(yù)防中心（Centers for Disease Control and Prevention，CDC）的資料,，血色病的早期癥狀包括疲勞,，虛弱，體重減輕,，腹痛和關(guān)節(jié)痛,。CDC的資料說，如果患者在器官損傷之前開始治療,，那么就能夠正常地生活,，壽命不會縮短,。
該研究結(jié)果發(fā)表在2008年1月17日的《新英格蘭醫(yī)學》雜志上。
生物谷推薦原始出處：
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.
