海南农村347对有中间型或重型地中海贫血遗传风险夫妇的相关情况调查分析

目的了解海南农村地中海贫血夫妇子代遗传风险及其相关情况,以便做好海南农村夫妇及其家庭优生优育的指导工作。方法采集有地贫遗传风险的347对夫妇在计划生育服务机构的地贫筛查指标及基因检测结果,针对调查对象有关优生优育意识、婚育和家庭等相关情况进行问卷调查。此外,另采集134例非地贫基因携带者（简称健康组）的数据进行对照。结果 347对夫妇均为生育期夫妇,共计694例,其中黎族居多共447例占64.4%;男女早婚例数分别有49例和40例,共计89例占总调查例数的12.8%,文化程度以初中居首为80.4%,优生优育意识历经孕优检查宣传教育后得到提高;83.0%的家庭年均收入低于海南省2012年农村居民人均纯收入7 408元的水平,87.5%的地贫家庭为地贫患儿治疗费用年均在万元以上,超过其家庭收入的1/3;其共生育小孩426个,健在394个占92.5%,夭折32个占7.5%（其中26个因地贫病故,占夭折小孩总数的81.2%,夭折年龄多数在2岁左右）;α-地贫、α-地贫复合β-地贫、β-地贫血常规筛查指标随着基因突变或缺失严重程度呈逐渐下降的趋势,与健康组比较差异有统计学意义。检测出的α-地贫基因有28种,β-地贫基因有6种,α-地贫复合β-地贫的基因组合有30种。其中以--SEA/αα、-α3.7/αα、-α4.2/αα、βCD41-42（-CTTT）/βN和βIVS-Ⅱ-654（C→T）/βN等居多,其中--SEA/αα占α-地贫基因缺失和突变的32.7%,βCD41-42（-CTTT）/βN占β-地贫突变基因的89.2%。347对地贫夫妇有可能孕育重型地贫子代的夫妇就有143对。结论根据地中海贫血夫妇的携带基因,可以有针对性地做好相关的健康教育和指导以及产前基因检测,预防重症地贫患儿出生,有利于提高出生人口素质。

Investigation and analysis of 347 couples with intermediate or severe thalassemia genetic risk in rural areas of Hainan Province

Objective To know the offspring genetic risk and relevant condition of thalassemia couples in rural areas of Hainan Province, so as to perform an eugenics guidance for rural couples and families in Hainan Province. Methods We collected thalassemia screening indexes and gene testing results of 347 couples with thalassemia genetic risk from family planning service organization, and then performed a questionnaire survey for the above objects basing on eugenics consciousness, marriage and family conditions. Furthermore, the data of other 134 non-thalassemia gene carriers（healthy group for short） was also collected for comparison. Results The 347 couples are all in their reproductive period, with a total of 694 cases. Among them there are 447 ethnic Li cases（which accounted for64.4%）. In the survey, the number of cases of early marriage for males and females are respectively 49 and 40, accounting for 12.8%. 80.4% of the surveyed couples have an education level of junior high school. People＇s eugenics consciousness was improved after public education and pregnant tests. The average annual incomes of 83.0% families are lower than the average annual rural income of 2012： $7 408. On average, 87.5% thalassemia families had spent more than $10 000, which was over 1/3 of the household income, on their children＇s treatments. In total, these couples gave birth to 426 children, 394 of which are still alive（accounting for 92.5%）, and 32（7.5%） of them died young. 26 of the 32 children died due to thalassemia, accounting for 81.2% of the total dead children, and most of them died at the age of two. The thalassemia screening indexes declines gradually according to the severity of mutation or deletion,which is statistical significanct compared to the healthy group. 28 kinds of α-thalassemia genes, 6 kinds of β-thalassemia genes, and 30 kinds of recombination of α-thalassemia and β-thalassemia genes are detected. Of all these genes,--SEA/αα,-α3.7/αα,-α4.2/αα, βCD41-42（-CTTT）/βNand βIVS-Ⅱ-654