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土耳其代尼兹利省β地中海贫血特征的婚前筛查。

Premarital screening of beta-thalassemia trait in the province of Denizli, Turkey.

作者信息

Keskin A, Türk T, Polat A, Koyuncu H, Saracoglu B

机构信息

Faculty of Medicine, Pamukkale University, Denizli, Turkey.

出版信息

Acta Haematol. 2000;104(1):31-3. doi: 10.1159/000041066.

Abstract

A premarital screening program aiming at reducing the incidence of thalassemia major was started under the auspices of the Regional Health Administration in 1995 in the city of Denizli in the Aegean region of Turkey. In this report we assessed the 4-year results of the screening program. All couples who applied for marriage procedures were screened for beta-thalassemia trait by automatic red cell indices and Hb A(2) determination. The couples at risk were counseled and offered prenatal diagnosis and termination of pregnancy in case of an affected fetus. From October 1995 to August 1999, a total of 19,804 subjects (9,902 couples) were recruited for this study. The prevalence of beta-thalassemia trait with increased Hb A(2) was found to be 2.6% (514/19,804). In addition to the thalassemia trait, 22 patients (0.11%) had sickle trait. In 15 of the 9,902 couples, both partners were found to be carriers of the beta-thalassemia trait. After genetic counseling, 2 of the 15 planned carrier marriages were canceled. Seven couples declared that they do not want to have a child at present. Prenatal diagnosis was sought by 6 couples. One fetus was found to be normal, 4 had thalassemia minor and 1 had thalassemia major; this pregnancy was terminated by elective abortion. This study indicated that premarital screening is a very useful tool for detecting carrier couples and an effective way of controlling thalassemia major.

摘要

1995年,在土耳其爱琴海地区代尼兹利市,一项旨在降低重型地中海贫血发病率的婚前筛查项目在地区卫生管理部门的支持下启动。在本报告中,我们评估了该筛查项目4年的结果。所有申请结婚手续的夫妇都通过自动红细胞指数和Hb A(2)测定进行β地中海贫血特征筛查。对有风险的夫妇进行咨询,并在胎儿受影响的情况下提供产前诊断和终止妊娠服务。从1995年10月到1999年8月,共有19804名受试者(9902对夫妇)被纳入本研究。发现Hb A(2)升高的β地中海贫血特征患病率为2.6%(514/19804)。除了地中海贫血特征外,22名患者(0.11%)有镰状细胞特征。在9902对夫妇中,有15对夫妇双方均被发现是β地中海贫血特征携带者。经过遗传咨询,15对计划中的携带者婚姻中有2对取消。7对夫妇表示他们目前不想生孩子。6对夫妇寻求产前诊断。发现1例胎儿正常,4例患有轻度地中海贫血,1例患有重型地中海贫血;该妊娠通过选择性流产终止。本研究表明,婚前筛查是检测携带者夫妇的非常有用的工具,也是控制重型地中海贫血的有效方法。

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