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目的:了解该地区α-地中海贫血表型儿童中地中海贫血发生情况、基因突变类型,比较不同筛查方法的确诊率。方法:采用血红蛋白(Hb)分析或(和)血液学指标筛查α-地中海贫血,对2 930例α-地中海贫血表型儿童进行基因检测,分析不同筛查方法确诊率。结果:2 930例α-地中海贫血表型儿童中,确诊α-地中海贫血2 563例(87.47%),包括Hb Bart’s综合征2例(0.08%),Hb H病365例(14.24%),α-地中海贫血基因携带者2 196例(85.68%)。检出6种基因突变、24种基因类型,以--sea(52.52%)、-α3.7(11.63%)和αCSα(7.80%)突变杂合子最常见。α-地中海贫血表型新生儿基因确诊率(95.00%)高于α-地中海贫血表型28天~6个月婴幼儿(87.25%)和6个月~15岁儿童(83.81%),差异有统计学意义(P<0.05)。结论:该地区儿童地中海贫血基因类型多样,中重型α-地中海贫血发生率高,应加强地中海贫血干预工作,以避免重型患儿的出生。
OBJECTIVE: To understand the incidence of thalassemia and gene mutation in children with α-thalassemia phenotype in this area and to compare the diagnostic accuracy of different screening methods. METHODS: Alpha-thalassemia was detected by hemoglobin (Hb) analysis or hematology. Genotypes were detected in 2 930 children with alpha-thalassemia phenotype, and the diagnostic rates of different screening methods were analyzed. Results: A total of 2 563 (87.47%) cases of α-thalassemia were confirmed in 2 930 children with α-thalassemia, including 2 cases of Hb Bart’s syndrome (0.08%), 365 cases of Hb H disease 2 196 cases of thalassemia carriers (85.68%). Six kinds of genetic mutations and 24 kinds of gene types were detected, the heterozygotes were the most common among them --sea (52.52%), - α3.7 (11.63%) and αCSα (7.80%). The prevalence of α-thalassemia phenotype neonates was 95.00% higher than that of α-thalassemia children aged 28-6 months (87.25%) and 6 months to 15 years (83.81%). The difference was Statistical significance (P <0.05). CONCLUSIONS: There are many genetic types of thalassemia in children in this area, and the incidence of moderate-to-heavy alpha-thalassemia is high. Thalassemia intervention should be strengthened to avoid the birth of heavy children.