Abstract: Objective To investigate the distribution of thalassemia gene in Huangshi city and clinical manifestation of different genotypes,so as to provide reference for the screening and prevention of thalassemia. Method The initial screening of thalassemia was carried out by capillary electrophoresis,and the cases with positive screening results were recalled for thalassemia gene and blood routine test. Results In 2018,there were 31 140 live births in Huangshi city,of whom 30 554 newborns conducted neonatal disease screening for thalassemia,with a screening rate of 98.12% and a positive rate of 1.79% (546/30 554).α-thalassemia accounted for 73.44 %,including --^SEA/αα (54.11%),-α^3.7/αα (37.66%),and -α^4.2/αα (6.48%).Mild,stationary and middle clinical phenotypes were 221 177 and 3 cases,respectively.β-thalassemia accounted for 26.01% (142/546),and 13 types of mutations were detected,such as IVS-2-654 (50.7%),CD41-42 (19.72%) and CD17 (8.45%).In terms of clinical phenotype,133 cases were mild and 9 cases were moderate.There were 3 cases of αβ-thalassemia,and 2 cases of Southeast Asian missing α-thalassemia type combined with Hong Kong type HK αα.The incidence of anemia in thalassemia gene carriers were 27.29%,and 71.81% cases were slight anemia type.Moreover,the incidence of anemia in α-thalassemia and β-thalassemia gene carriers were 21.95% and 42.25%,and mild anemia type accounted for 78.41% and 63.33%,respectively. Conclusions The thalassemia in Huangshi city is mainly seen in α-thalassemia with --^SEA/αα genotype.β-thalassemia is most common with IVS-2-654 genotypes,mainly with static and mild clinical phonotypes.Compared with α-thalassemia gene carriers,β-thalassemia gene carriers lare more likely to develop anemia.All in all,it is necessary to conduct thalassemia screening in order to provide reference for preventing thalassemia and decreasing birth defects.

Key words: capillary electrophoresis, thalassemia, gene types, anemia, clinical phenotype

摘要： 目的 了解地中海贫血(地贫)基因在黄石地区的分布情况及不同基因型的临床表现,为该病的筛查预防提供依据。方法 采用毛细管电泳进行地中海贫血初筛,筛查阳性者召回进行地中海贫血基因和血常规检测。结果 2018年1—12月黄石地区活产31 140人,新生儿疾病筛查30 554人,筛查率为98.12%,地贫阳性检出率为1.79%(546/30 554)。α地贫占73.44%(401/546),基因型包含--^SEA/αα(54.11%)、-α^3.7/αα(37.66%)、-α^4.2/αα(6.48%)等,临床表型为轻型221例,静止型177例,中间型3例。β地贫占26.01%(142/546),检出IVS-2-654(50.7%)、CD41-42(19.72%)、CD17(8.45%)等13种突变类型,临床表型为轻型133例,中间型9例。αβ复合型地贫3例,2例东南亚缺失型α地贫可能合并有香港型HKαα。人群中地贫基因携带者贫血发生率为27.29%,轻度贫血占71.81%;α地贫携带者贫血发生率为21.95%,轻度贫血占78.41%;β地贫携带者贫血发生率为42.25%,轻度贫血占63.33%。结论 黄石地区人群地贫阳性以α地贫为主,α地贫以--^SEA/αα最常见,β地贫以IVS-2-654最常见,αβ复合型地贫少见,临床表型均以静止型和轻型为主。在地贫基因携带者中β地贫发生概率高于α地贫。通过开展地中海贫血的筛查,为本地区防控地中海贫血预防出生缺陷提供了参考依据。

关键词: 毛细管电泳, 地中海贫血, 基因型, 贫血, 临床表型