Study on Thalassemia in Han Population in Sanya of Hainan Province.
10.19746/j.cnki.issn.1009-2137.2022.01.039
- Author:
Yuan-Yuan XU
1
;
Meng LI
2
;
Lin-Xun GUAN
3
;
Song-He XIANG
3
;
Long-Can CHENG
3
;
Yu-Hui YANG
3
;
Xiao-Ning GAO
4
;
Hong-Mei NING
5
Author Information
1. Department of Hematology, Hainan Hospital of Chinese PLA General Hospital, Sanya 572000, Hainan Province, China,Department of Hematology and Oncology, Shenzhen University General Hospital, Shenzhen 518071, Guangdong Province, China.
2. Department of Hematology, The First Medical Center of Chinese PLA General Hospital， Beijing 100853, China.
3. Department of Hematology, Hainan Hospital of Chinese PLA General Hospital, Sanya 572000, Hainan Province, China.
4. Department of Hematology, The Fifth Medical Center of Chinese PLA General Hospital, Beijing 100071, China,E-mail：gaoxn@263.net.
5. Department of Hematology, The Fifth Medical Center of Chinese PLA General Hospital, Beijing 100071, China,E-mail: ninghongmei72@sina.com.
- Publication Type:Journal Article
- Keywords:
Han population;
Sanya;
genotype;
thalassemia
- MeSH:
China/epidemiology*;
Genotype;
Heterozygote;
Humans;
Mutation;
alpha-Thalassemia/genetics*;
beta-Thalassemia
- From:
Journal of Experimental Hematology
2022;30(1):232-236
- CountryChina
- Language:Chinese
-
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.
