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目的:探讨广西南宁、柳州、百色3个城市7岁以下儿童地中海贫血基因突变类型及其构成情况。方法:采用多阶段整群抽样方法,抽取广西南宁、柳州、百色3个城市幼儿园9所,共2 044例7岁以下儿童,采集血液标本,进行血常规检测、血红蛋白电泳和血红蛋白A2(HbA2)定量分析,进一步应用PCR方法检测珠蛋白基因突变进行地贫基因诊断。结果:2 044名7岁以下儿童中,267名儿童为α地贫可疑者,进一步进行地贫基因诊断,共检出172例珠蛋白基因突变,其中8例为HbH病,118例为轻型地贫,46例为静止型地贫;72例地贫基因型构成比依次为:--SEA/αα(66.28%),-α3.7/αα(12.80%),-α4.2/αα(6.98%),αCSα/αα(6.40%),--SEA/-α3.7(1.74%),--SEA/αCSα(1.74%),--SEA/-α4.2(1.16%),--Thai/αα(1.16%),-α3.7/-α3.7(0.58%),-α3.7/-α4.2(0.58%),αQSα/αα(0.58%)。结论:广西7岁以下儿童地贫常见基因型为--SEA/αα,-α3.7/αα,-α4.2/αα和αCSα/αα,少见基因型为--SEA/-α3.7,-SEA/αCSα,-SEA/-α4.2,--Thai/αα,-α3.7/-α3.7,-α3.7/-α4.2,αQSα/αα。
OBJECTIVE: To investigate the types and the constitution of thalassemia gene mutations in children under 7 years old in three cities of Nanning, Liuzhou and Baise in Guangxi province. Methods: A total of 2 044 children under 7 years old were collected from 9 nurseries in 3 cities of Nanning, Liuzhou and Baise in Guangxi by multistage cluster sampling. Blood samples were collected for blood tests, hemoglobin electrophoresis and hemoglobin A2 (HbA2) Quantitative analysis, further application of PCR detection of globin gene mutations for thalassemia gene diagnosis. Results: Among 2 044 children under 7 years old, 267 children were suspicious of α-thalassemia, and further genetic diagnosis of thalassemia was carried out. A total of 172 cases of HbH mutation were detected, of which 8 were HbH disease and 118 were light (P <0.05). The genotypes of 72 thalassemia carriers were as follows: SEA / αα (66.28%), α3.7 / αα (12.80%), α4.2 / αα -SEA / -α3.7 (1.74%), -SEA / αCSα (1.74%), -SEA / -α4.2 (1.16%), -Thai / αα (1.16%), -α3.7/-α3.7 (0.58%), -α3.7/-α4.2 (0.58%), αQSα / αα (0.58%). Conclusions: The common genotypes of thalassemia among children under 7 years of age in Guangxi are - SEA / αα, -α3.7 / αα, -α4.2 / αα and αCSα / αα, rare genotypes - SEA / -α3.7, -SEA / αCSα, -SEA / -α4.2, - Thai / αα, -α3.7 / -α3.7, -α3.7 / -α4.2, αQSα / αα.