1. [Study on Thalassemia in Han Population in Sanya of Hainan Province].
- Author
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Xu YY, Li M, Guan LX, Xiang SH, Cheng LC, Yang YH, Gao XN, and Ning HM
- Subjects
- China epidemiology, Genotype, Heterozygote, Humans, Mutation, alpha-Thalassemia epidemiology, alpha-Thalassemia genetics, beta-Thalassemia
- Abstract
Objective: To study the distribution characteristics of thalassemia genotype in Han Population in Sanya of Hainan Province., Methods: Gap PCR and reverse dot hybridization were used to detect and analyze the thalassemia gene in 572 suspected thalassemia carriers of Han Population in Sanya., Results: Among the 572 Han Population in Sanya, 271 cases of thalassemia gene abnormality were detected, among which 161 cases were founded to be carriers of α-thalassemia gene. A total of 9 genotypes were detected, in the following order of the detection rate was --
SEA /αα,-α3.7 /αα,-α4.2 /αα,--SEA /-α3.7 ,--SEA /-α4.2 ,-α4.2 /-α4.2 ,-α3.7 /-α4.2 ,-α3.7 /-α3.7 ,--SEA /--SEA . Among them, the deletion type (--SEA /αα) in southeast Asia was the most common, accounting for 66 cases. 99 cases of β-thalassemia were detected, there were 7 genotypes, all of which were heterozygous. The order of the detection rate was CD41-42/βN, IVS-II-654/βN, CD17/βN, CD71-72/βN, -28/βN, -29/βN, CD27-28/βN. Among them, CD41-42/βN was the most common, accounting for 51 cases. In addition, 11 cases of combined α and β thalassemia were detected. Five kinds of genotypes were checked out, the order of detection rate was -α3.7 /αα composite CD41-42/βN, --SEA /αα composite IVS-II-654/βN, -α4.2 /-α4.2 composite CD41-42/βN, -α4.2 /αα composite -29/βN , --SEA / -α4.2 composite CD41-42/βN., Conclusion: Han Population in Sanya of Hainan Province is a high-risk population of thalassemia, the genotype characteristics are different from other areas with high incidence of thalassemia in China. The main type of α-thalassemia is the deficiency mutation of southeast Asia, while CD41-42 heterozygous mutation is the main type of β-thalassemia.- Published
- 2022
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