Aim:To analyze the distribution of genotype characteristics of β-thalassemia among the high-risk groups in Guangdong Qingyuan.Methods:The genotypes and clinical phenotypes of β-thalas-semia were characterized in those who were suspected of thalassemia during 2014.1 -2015.12 in Qingyuan area of Guangdong.β-globin gene mutation was detected in DNA samples from peripheral blood cells using PCR-reverse dot blot hybridization (PCR-RDB).Results:β-thalassemia was identified in 698 cases out of 5063 cases (13.79%)of which heterozygotes were 696 cases (99.71%),double heterozy-gotes or homozygotes were identified in 1 case respectively.The mutation genotype contained 12 kinds, and the most common genotype was CD41-42 (298 cases,42.69%),followed by the IVS-2-654 (174 cases,24.93%)、-28(78 cases,11.17%),CD17 (68 cases,9.74%),βE (27 cases,3.89%), CD43 (23 cases,3.30%),CD71 /72 (18 cases,2.58%),CD14 /15 (5 cases,0.72%),-29 (3 ca-ses,0.43%),CD27 /28 (3 cases,0.43%),CAP (2 cases,0.28%)and Int (1 cases,0.14%).A-mong the 698 cases of β-thalassemia,696 cases were belong to slight-type,while intermediate and heavy-type were found in 1 case each,and both patients suffered from severe anemia.Conclusion:The inci-dence rate of β-thalassemia among populations in Qingyuan is relatively high with more complex genetic alteration.The vast majority types of β-thalassemia mutant are heterozygous.The most common type is CD41-42 genotype.Clinically most light type mainly and very heavy few are type β-thalassemia in clini-cal.%目的:分析广东清远地区地中海贫血高危人群 β-地中海贫血基因型分布特点.方法:采用PCR反向斑点膜条杂交技术(PCR-RDB)进行 β地中海贫血基因突变检测.结果:5063例受检标本中,β-地贫基因检出698例(13.79%),其中杂合子696例(99.71%),双重杂合子和纯合子各1例.突变基因类型共有12种,其中突变频率最高的为CD41-42:298例(42.69%),其次依次为IVS-2-654:174例(24.93%)、-28:78例(11.17%、)、CD17:68例(9.74%)、βE:27例(3.89%)、CD43:23例(3.30%)、CD71/72:18例(2.58%)、CD14/15:5例(0.72%)、-29:3例(0.43%)、CD27/28:3例(0.43%)、CAP:2例(0.28%)、Int:1例(0.14%).698例 β-地贫中,轻型696例(99.71%)、中间型和重型各1例,中间型和重型临床表现均为重度小细胞低色素贫血.结论:广东清远地区地贫高危人群 β-地贫基因突变类型绝大多数为杂合子,最常见类型为CD41-42基因型;临床以轻型为主,极个别重型 β-地贫.
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