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土耳其梅尔辛省血红蛋白病婚前筛查项目的五年评估

Five-year evaluation of premarital screening program for hemoglobinopathies in the province of Mersin, Turkey.

作者信息

Tosun Fatma, Bilgin Adnan, Kızılok Atakan, Arpacı Abdullah, Yüreğir Güneş T

出版信息

Turk J Haematol. 2006 Jun 5;23(2):84-9.

PMID:27265288
Abstract

The prevalences of hemoglobin S (HbS) and β-thalassemia (β-thal) are high in Mersin, Turkey. In this study, the results of a five-year premarital screening program in Mersin province are reported. A total of 79,000 persons including 31,498 couples were screened in this program. Hematological analyses and electrophoresis were done to identify carriers. The results were given confidentially and at-risk couples were counselled on reproductive options and prenatal diagnosis. The carrier rates of hemoglobins (Hb) (HbS, HbD, HbE) and of β-thal were 1.21%, 0.17%, 0.04% and 2.04%, respectively. One hundred and thirty-four couples were at-risk, of whom 67.2% had health insurance. Twenty-seven couples did not become pregnant, six were divorced and 11 could not be reached. Of the 135 pregnancies, 80 had prenatal diagnosis. Five stillbirths occurred, and 18 homozygous babies were born to couples that did not seek prenatal diagnosis. Two families with prenatal diagnosis had affected babies: one was a late referral and the other due to religious reasons. For a successful screening program, emphasis must be on extensive and intensive informative programs for the public as a whole. Prenatal diagnosis should be offered free of charge as a basic public service. For a healthy population, knowledge and a shared responsibility between the public and the government are necessary.

摘要

土耳其梅尔辛市的血红蛋白S(HbS)和β地中海贫血(β-thal)患病率很高。在本研究中,报告了梅尔辛省一项为期五年的婚前筛查项目的结果。该项目共筛查了79000人,包括31498对夫妇。通过血液学分析和电泳来识别携带者。结果会保密提供,对有风险的夫妇就生育选择和产前诊断进行咨询。血红蛋白(Hb)(HbS、HbD、HbE)和β地中海贫血的携带者率分别为1.21%、0.17%、0.04%和2.04%。134对夫妇有风险,其中67.2%有健康保险。27对夫妇未怀孕,6对离婚,11对无法联系上。在135次怀孕中,80次进行了产前诊断。发生了5次死产,18名纯合子婴儿出生于未寻求产前诊断的夫妇。有两户接受产前诊断的家庭产下了患病婴儿:一户是转诊较晚,另一户是出于宗教原因。要使筛查项目取得成功,必须重点为全体公众开展广泛而深入的宣传项目。产前诊断应作为一项基本公共服务免费提供。对于健康的人群而言,公众与政府之间的知识共享和共同责任是必要的。

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