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评估血红蛋白病携带者已婚夫妇,以预防血红蛋白病患儿出生。

Evaluation of married haemoglobinopathic carrier couples for prevention of haemoglobinopathic births.

机构信息

Department of Public Health, Çukurova University Faculty of Medicine, Adana, Turkey.

Projects Departmant, Provincial Health Directorate, Hatay, Turkey.

出版信息

Balkan Med J. 2013 Dec;30(4):394-9. doi: 10.5152/balkanmedj.2013.9076. Epub 2013 Sep 27.

DOI:10.5152/balkanmedj.2013.9076
PMID:25207147
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4115955/
Abstract

BACKGROUND

Abnormal haemoglobins (Hb) and thalassaemias are some of the most frequently observed hereditary disorders in the world, but especially in the Mediterranean region where Turkey is located. Hatay province is one of the largest provinces in the region, suggested as a target area to be selected for preventive programs after studies by three Turkish universities, i.e. Çukurova, Akdeniz and Hacettepe Universities in Turkey.

AIMS

The aim of this study was to determine demographic and family characteristics of all haemoglobinopathy carrier married couples registered in the Hatay Provincial Health Directorate registry and to educate the target population about pregnancy, births, prenatal diagnosis and genetic counselling with the particularly emphasised scope of eliminating all haemoglobinopathic births.

STUDY DESIGN

Descriptive cross-sectional and intervention study.

METHODS

1065 couples both being haemoglobinopathic carriers, registered in the Hatay Provincial Health Directorate registry were investigated for socio-demographic characteristics, obstetrical status and especially for a present pregnancy, the presence of any haemoglobinopathic patients or carrier children in the family.

RESULTS

Among women with a history of pregnancy, 47.3% reported that they had never had any prenatal testing, while 33.1% had got received testing in each of their pregnancies. The most frequent reason for not having the test was declared as unawareness of the test (66.0%), followed by economic insufficiencies (17.1%), destiny/religious reasons (9.1%) and family interference (7.8%). After a series of descriptive analyses, the results of the final binary logistic regression model constructed to find out the risk factors significantly affecting the presence of a sick child in the family were grouped as risk increasing factors like age (95%CI between 1.002 and 1.122), marriage before 1994 (95%CI=1.081-4.161), and risk decreasing factors like family willingness for screening (95%CI=0.167-0.854), rate of prenatal testing (95%CI=0.147-0.414), age at first pregnancy (95%CI=0.469-0.882); while the frequency of births was found to have no significant effect (p>0.05).

CONCLUSION

Besides all legal regulations and applications, time is still needed for real success against such a diffuse and congenitally transferred disease. The education of the target populations appears to be crucial. Official applications should be forced based upon present or future laws.

摘要

背景

异常血红蛋白(Hb)和地中海贫血是世界上最常见的遗传性疾病之一,尤其是在地中海地区,而土耳其正位于该地区。哈塔伊省是该地区最大的省份之一,此前有三所土耳其大学(Çukurova、Akdeniz 和 Hacettepe 大学)进行了研究,该省被提议作为预防计划的目标地区。

目的

本研究的目的是确定在哈塔伊省卫生署登记处登记的所有血红蛋白病携带者已婚夫妇的人口统计学和家庭特征,并通过特别强调消除所有血红蛋白病出生的方式,对目标人群进行有关妊娠、分娩、产前诊断和遗传咨询的教育。

研究设计

描述性横断面和干预研究。

方法

对哈塔伊省卫生署登记处登记的 1065 对血红蛋白病携带者夫妇进行了社会人口学特征、产科状况的调查,特别是目前的妊娠情况,以及家庭中是否有任何血红蛋白病患者或携带者儿童。

结果

在有妊娠史的女性中,47.3%的人报告从未进行过任何产前检查,而 33.1%的人在每次妊娠中都进行了检查。不进行检查的最常见原因是不知道有这种检查(66.0%),其次是经济困难(17.1%)、命运/宗教原因(9.1%)和家庭干扰(7.8%)。经过一系列描述性分析,将构建最终二项逻辑回归模型的结果分组为影响家庭中是否存在患病儿童的显著危险因素,这些危险因素被归类为风险增加因素,如年龄(95%置信区间为 1.002 至 1.122)、1994 年前结婚(95%置信区间为 1.081 至 4.161),以及风险降低因素,如家庭筛查意愿(95%置信区间为 0.167 至 0.854)、产前检查率(95%置信区间为 0.147 至 0.414)、首次妊娠年龄(95%置信区间为 0.469 至 0.882);而出生频率则没有显著影响(p>0.05)。

结论

除了所有的法律规定和应用外,要想真正成功地对抗这种广泛存在的先天性疾病,还需要时间。对目标人群的教育显得至关重要。应该根据现有或未来的法律来强制实施官方申请。

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A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures.一种针对血红蛋白病患者的遗传指导模型以及对家庭成员进行实验室诊断作为教育和预防措施。
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