关键词: 毛细管电泳, 地中海贫血, 基因型, 贫血, 临床表型

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