摘要
目的了解海南省东方市育龄人群地中海贫血（简称地贫）基因携带率、基因突变类型及分布情况，为建立有效的地贫防控方案提供依据。方法收集2012年9月至2013年3月在东方市妇幼保健院婚检、孕检的1000对育龄夫妇地贫筛查资料．回顾性分析筛查阳性地贫夫妇的基因检测结果及基因分型。结果在筛查的1000对育龄夫妇中，检出携带地贫基因322例，检出率为16．10％（322／2000）。检出携带α-地贫基因246例，检出率为12.30％（246／2000），占检出病例的76．40％（246／322），其中α-缺失基因型197例，占检出病例的61．18％（197／322）；α-非缺失基因型32例，占检出病例的9．94％（32／322）；α-缺失杂合非缺失基因型17例，占检出病例的5．28％（17／322）。检出携带β-地贫基因43例，检出率为2．15％（43／2000）。检出携带α-合并β-地贫基因33例，检出率为1．65％（33／2000）。在检出的α-地贫基因型中，-α3.7／αα基因型最多，占19．25％（62／322）；其次为-α42／αα基因型，占17．70％（57／322）；第三为--SEA/αα基因型，占8．70％（28／322）。在检出的β-地贫基因型中，CD41．42／N基因型最多，占9．63％（31／322）。结论海南省东方市婚育人群地贫基因检出率较高．以携带α-地贫基因型为主。医疗卫生部门应重视地贫防控，强化婚前、孕前的地贫筛查，减少患儿的出生。
Objective To investigate the genetic carrier rate of thalassemia and its gene mutation types as well as the distribution characteristics among couples of reproductive age in Dongfang City of Hainan Province, and to provide a basis for making prevention and control strategies against thalassemia. Methods Samples were collected from 1 000 couples undergoing premarital and pregestational screenings for thalassemia in Dongfang City of Hainan Province from September 2012 to March 2013, in which the positive ones in preliminary screening were further tested by genetic diagnoses and the genotypes were retrospectively analyzed. Results Among 1 000 couples, 322 spouses were diagnosed with thalassemia gene mutation and the carrying rate was 16.10% （322/2 000）. In those carriers, 246 spouses were α-thalassemia and the carrying rate was 12.30% （246/2 000）, accounting for 76.40% （246/322） of all thalassemia carriers, among them, there were 197 cases of α-deficiency genotype, accounting for 61.18% （197/322）, 32 carried mutated α-gene, accounting for 9.94% （32/322）, 17 carried both deleted and mutated α-gene, accounting for 5.28% （17/322）; 43 spouse were β-thalassemia and the carrying rate was 2.15% （43/2 000）; 33 spouse were both α- and β-thalassemia and the carrying rate was 1.65% （33/2 000）. In spouses diagnosed with α-thalassemia, the major genotype was -α3.7/αα, accounting for 19.25% （62/322）; the second ranked was -α4.2/αα, accounting for 17.70% （57/322）, and the third ranked was --SEA/αα, accounting for 8.70% （28/322）. In spouses diagnosed with β-thalassemia, the major genotype was CD41-42/N, accounting for 9.63% （31/322）. Conclusions The population carrying rate of thalassemia in Dongfang City of Hainan Province is high, and its major type is α-thalassemia. For the purpose of decreasing the birth rate of thalassemia, major, local public health department should attach great importance to thalassemia prevention, and strengthen premarital and pregestational
出处
《中华地方病学杂志》
CAS
CSCD
北大核心
2018年第1期69-72,共4页
Chinese Journal of Endemiology
基金
海南省自然科学基金（814361）
海南省医学科研课题（琼卫2013资助-054号）
海南省医药卫生科研项目（14A200004）
海口市重点科技计划项目（海科工信立[2014166号）
关键词
地中海贫血
育龄夫妇
基因型
Thalassemia
Couples of reproductive age
Genotype
