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北塞浦路斯地中海贫血预防项目的结果。

Results from the north cyprus thalassemia prevention program.

作者信息

Bozkurt Gülsen

机构信息

North Cyprus Thalassaemia Centre, Nicosia,Cyprus.

出版信息

Hemoglobin. 2007;31(2):257-64. doi: 10.1080/03630260701297204.

Abstract

Thalassemia was a serious health problem in Cyprus. The first scientific studies on thalassemia started in 1976 after a seminar which was organized by the Turkish Hematology Association. At the end of the seminar it was decided that a thalassemia prevention program would be effective to control this problem as thalassemia was a hereditary disease and possible to prevent. The aim was to stop the affected newborns and provide good treatment facilities to the existing thalassemic patients. In 1979, high risk families started to be screened for thalassemia. In 1980, premarital screening was made compulsory by law. In 1984, prenatal diagnosis was started with fetal blood sampling techniques. DNA techniques replaced fetal blood sampling in 1991. After prenatal diagnosis started in 1984, affected birth rates showed a sharp decrease in contrast to an average of 18-20 cases per year before the implementation of the "Thalassaemia Prevention Programme." Between 1991 to 2001, only five thalassemic babies were born, one in every 2-3 years. No thalassemic babies have been born in the last 5 years. Thalassemic patients live longer with a better quality of life because of more effective treatment modalities. A great majority of the patients are over 25 years old (66%), living and working as the normal population. Thirty-eight percent of them are married and have children.

摘要

地中海贫血曾是塞浦路斯一个严重的健康问题。1976年,在土耳其血液学协会组织的一次研讨会之后,关于地中海贫血的首批科学研究开始了。研讨会结束时决定,鉴于地中海贫血是一种遗传性疾病且有可能预防,一项地中海贫血预防计划对于控制这一问题将是有效的。其目标是阻止患病新生儿的出生,并为现有的地中海贫血患者提供良好的治疗设施。1979年,开始对高危家庭进行地中海贫血筛查。1980年,婚前筛查被法律强制实施。1984年,开始采用胎儿血液采样技术进行产前诊断。1991年,DNA技术取代了胎儿血液采样。1984年产前诊断开始后,与“地中海贫血预防计划”实施前每年平均18至20例的情况形成对比,患病出生率急剧下降。1991年至2001年期间,仅出生了5名地中海贫血患儿,每两到三年出生1名。在过去5年中没有地中海贫血患儿出生。由于治疗方式更加有效,地中海贫血患者的寿命更长,生活质量更高。绝大多数患者年龄超过25岁(66%),像正常人群一样生活和工作。其中38%已婚并有子女。

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