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本文引用的文献

1
Pregnancy and beta-thalassemia: an Italian multicenter experience.妊娠与β-地中海贫血:意大利多中心经验。
Haematologica. 2010 Mar;95(3):376-81. doi: 10.3324/haematol.2009.012393. Epub 2009 Nov 10.
2
Pseudoxanthoma-elasticum-like syndrome and thalassemia: an update.弹性假黄瘤样综合征与地中海贫血:最新进展
Dermatol Online J. 2009 Jul 15;15(7):7.
3
Improved survival in thalassemia major patients on switching from desferrioxamine to combined chelation therapy with desferrioxamine and deferiprone.从去铁胺转换为去铁胺与地拉罗司联合螯合疗法后,重型地中海贫血患者的生存率得到提高。
Haematologica. 2009 Dec;94(12):1777-8. doi: 10.3324/haematol.2009.009118. Epub 2009 Oct 8.
4
Cardiac T2* magnetic resonance for prediction of cardiac complications in thalassemia major.心脏T2*磁共振成像预测重型地中海贫血患者心脏并发症的研究
Circulation. 2009 Nov 17;120(20):1961-8. doi: 10.1161/CIRCULATIONAHA.109.874487. Epub 2009 Oct 2.
5
ESHRE PGD Consortium data collection IX: cycles from January to December 2006 with pregnancy follow-up to October 2007.欧洲人类生殖与胚胎学会(ESHRE)胚胎植入前基因诊断(PGD)联盟数据收集IX:2006年1月至12月周期及随访至2007年10月的妊娠情况
Hum Reprod. 2009 Aug;24(8):1786-810. doi: 10.1093/humrep/dep059. Epub 2009 Apr 29.
6
The influence of treatment in specialized centers on survival of patients with thalassemia major.专业中心的治疗对重型地中海贫血患者生存率的影响。
Am J Hematol. 2009 May;84(5):317-8. doi: 10.1002/ajh.21398.
7
Discovering the genetics underlying foetal haemoglobin production in adults.发现成人胎儿血红蛋白产生的潜在遗传学机制。
Br J Haematol. 2009 May;145(4):455-67. doi: 10.1111/j.1365-2141.2009.07650.x. Epub 2008 Mar 2.
8
Stem cell engineering for the treatment of severe hemoglobinopathies.用于治疗重度血红蛋白病的干细胞工程。
Curr Mol Med. 2008 Nov;8(7):690-7. doi: 10.2174/156652408786241357.
9
Improved survival of thalassaemia major in the UK and relation to T2* cardiovascular magnetic resonance.英国重型地中海贫血患者生存率的提高及其与T2*心血管磁共振成像的关系
J Cardiovasc Magn Reson. 2008 Sep 25;10(1):42. doi: 10.1186/1532-429X-10-42.
10
Outcome and management of pregnancy in women with thalassaemia in Cyprus.塞浦路斯地中海贫血女性的妊娠结局与管理
East Mediterr Health J. 2008 May-Jun;14(3):628-35.

重型地中海贫血患者的生活。

The life of patients with thalassemia major.

出版信息

Haematologica. 2010 Mar;95(3):345-8. doi: 10.3324/haematol.2009.017228.

DOI:10.3324/haematol.2009.017228
PMID:20207838
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2833059/
Abstract

Andrea wakes up late, because the night before he went to a party with his girlfriend. He disconnects the needle and puts his desferal pump in the drawer. Then he rushes to work: he’s a computer designer and his job is quite safe, because it was granted under the law protecting thalassemia patients and other people with medical problems. Nevertheless he does not want to irritate his boss. Besides, in a few days, he will be absent, and work will pile up, as he needs to go to the hospital for his regular blood transfusion. Salvatore does not sleep well. He has a cast on his leg, which makes sleeping difficult. Playing football with his friends he broke a tibia, and it is not a first. Last time it was a rib, jumping from a wall in the countryside. He lost his job as a mechanic, recently, just as many people seem to be doing these days. Fortunately he has a pension, given to him because he has this blood disease and also because he was infected with hepatitis C virus as a child. But he’s also worried about his health. Iron has been accumulating in his organs over the years and the doctors have warned him that he can no longer skip chelation. He’s now faithfully gulping his deferiprone pills and at night he injects desferal with the pump. He’s determined to take his life back into his hands again. Marisa’s morning is always difficult, with the two children to send to school (one adopted and the other conceived, unexpectedly, just one year later) and the house to clean, shopping to do and dinner that needs to be ready when her husband comes home. She takes this new chelating pill that dissolves in water, her vitamins and prophylactic antibiotics, her aspirin, and gets ready for the day. Around noon she has an appointment for her yearly check ups: audiometric tests, an ophthalmologic examination, and abdominal ultrasound. Next week it will be the turn of the MRI to check for iron in her heart and liver. Everything seems to be going well, so far. She thinks about her life: she’s satisfied with it. Who would ever have thought that she could carry on and look like a normal woman? Certainly not her mother who kept looking at her, as a child, with eyes full of tears. And now, instead … Just a pity about that ugly splenectomy scar on her belly.

摘要

安德烈亚起晚了,因为前一天晚上他和女朋友去参加了一个派对。他拔掉针头,把去铁酮输液泵放进抽屉里。然后他匆匆赶到工作岗位:他是一名计算机设计师,他的工作相当安全,因为这份工作是根据保护地中海贫血症患者和其他有医疗问题的人的法律获得的。尽管如此,他还是不想惹恼老板。此外,几天后,他将缺勤,因为他需要去医院进行定期输血,所以工作会堆积如山。萨瓦托雷睡不好觉。他的腿上打着石膏,这让他很难入睡。和朋友们踢足球时,他摔断了胫骨,这已经不是第一次了。上次是肋骨,他从乡下的一堵墙上跳下来摔断了肋骨。最近,他像许多人一样失去了机械师的工作。幸运的是,他有一份养老金,这是因为他患有这种血液病,也因为他小时候感染了丙型肝炎病毒。但他也担心自己的健康。多年来,铁一直在他的器官中积累,医生警告他不能再跳过螯合治疗了。现在他忠实地吞下他的地拉罗司,晚上用输液泵注射去铁酮。他决心重新掌控自己的生活。玛丽莎的早晨总是很艰难,她要送两个孩子上学(一个是收养的,另一个是意外怀上的,就在一年后),还要打扫房子、购物,准备好丈夫回家的晚餐。她服用这种新的可溶于水的螯合药物、维生素和预防性抗生素、阿司匹林,然后准备迎接新的一天。中午时分,她预约了每年一次的检查:听力测试、眼科检查和腹部超声检查。下周轮到她做磁共振成像检查,以检查她的心脏和肝脏中的铁含量。到目前为止,一切似乎都很顺利。她想到了自己的生活:她很满意。谁能想到她还能继续像个正常女人一样生活呢?当然不是她的母亲,她小时候总是含着泪看着她。而现在,相反……只是她腹部那条丑陋的脾切除术疤痕让人有些遗憾。