论文部分内容阅读
目的:分析彭水地区孕妇的地中海贫血基因突变情况,减少重度地中海贫血儿的出生率。方法:选择2013年1月1日至2015年11月30日在彭水县人民医院就诊的1800例孕妇。对所有孕妇进行地中海贫血筛查,首先进行血红蛋白成分分析,将血红蛋白异常的孕妇进行地中海贫血基因的检测,对检测结果进行分析。结果:共计有62名受检者进行地中海贫血基因检测,并对其中18例孕妇的配偶进行检测,62名孕妇中,10名为β-地中海贫血患者,12名为α-地中海贫血患者,为对其地中海贫血基因缺陷类型进行统计,4例全部为β-地中海贫血CD17位点突变基因杂合子,18名男性配偶均无地中海贫血基因携带。结论:彭水地区孕妇的地中海贫血阳性率为3.16%,所占比例较大,因此为避免更多的重度地中海贫血患儿的出生,要积极的宣传和开展婚前检查和产前检查,宣传其检查的必要性,提高人们对疾病的认知能力和人口素质。
Objective: To analyze the gene mutation of thalassemia in pregnant women in Pengshui area and to reduce the birth rate of children with severe thalassemia. METHODS: A total of 1800 pregnant women were enrolled in Pengshui People’s Hospital from January 1, 2013 to November 30, 2015. Thalassemia screening for all pregnant women, the first analysis of hemoglobin composition, hemoglobin abnormalities in pregnant women for the detection of thalassemia genes, the test results were analyzed. Results: A total of 62 subjects tested for thalassemia genes and 18 maternal spouses were tested. Of the 62 pregnant women, 10 were beta-thalassemia patients and 12 were alpha-thalassemia patients, and were According to the statistics of thalassemia gene defect types, all four cases were heterozygous for the mutation of CD17 locus in β-thalassemia and none of the 18 males had thalassemia gene. Conclusions: The positive rate of thalassemia among pregnant women in Pengshui area is 3.16%, which accounts for a large proportion. Therefore, in order to avoid the birth of more children with severe thalassemia, we should actively publicize and carry out premarital examination and prenatal examination, The need to check to improve people’s cognitive ability and quality of the population.