Gene Mutation Types of Thalassemia in Chongzuo Childbearing-age Population of Guangxi Zhuang Autonomous Region of China.
10.19746/j.cnki.issn.1009-2137.2023.06.031
- Author:
Dong-Ming LI
1
;
Xiu-Ning HUANG
2
;
Huan ZHAO
3
;
Xiang CHEN
4
;
Wan-Wei YANG
3
;
Zhen-Ren PENG
4
;
Li-Fang LIANG
2
;
Bi-Yan CHEN
4
;
Sheng HE
2
Author Information
1. Department of Clinical Laboratorial Examination, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning 530012, Guangxi Zhuang Autonomous Region, China.
2. Guangxi Key Laboratory of Reproductive Health and Birth Defects Prevention,Nanning 530012, Guangxi Zhuang Autonomous Region, China.
3. Department of Clinical Laboratorial Examination, Maternal and Child Health Hospital of Chongzuo, Chongzuo 532299, Guangxi Zhuang Autonomous Region, China.
4. Guangxi Key Laboratory of Birth Defects Research and Prevention, Nanning 530012, Guangxi Zhuang Autonomous Region, China.
- Publication Type:Journal Article
- Keywords:
childbearing-aged population;
gene mutation;
genotype;
thalassemia
- MeSH:
Humans;
beta-Thalassemia/genetics*;
alpha-Thalassemia/genetics*;
Dipeptidyl Peptidase 4/genetics*;
China/epidemiology*;
Genotype;
Mutation
- From:
Journal of Experimental Hematology
2023;31(6):1804-1810
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To investigate the gene mutation and genotype distribution of thalassemia in the population of childbearing age in Chongzuo area of Guangxi.
METHODS:Six α-thalassemia and 17 β-thalassemia gene mutations common in Chinese were detected by gap-polymerase chain reaction (gap-PCR) combined with agarose gel eletrophoresis and reserve dot bolt hybridization in 29 266 cases of child-bearing age suspected of thalassemia.
RESULTS:A total of 19 128 (65.36%) cases were identified with thalassemia. The detection rate of α-thalassemia, β-thalassemia and α-combining β-thalassemia was 45.25% (13 242/29 266), 15.47% (4 526/29 266) and 4.65% (1 360/29 266), respectively. A total carrying rate of 8 kinds of α-thalassemia gene mutations was 26.74% (15 649/58 532), including 12.51% for --SEA, followed by 5.70% for -α3.7, and 0.24% for --Thai. Among 32 α-thalassemia genotypes, the most common five were --SEA/αα, -α3.7/αα, αCSα/αα, -α4.2/αα and αWSα/αα, accounting for 47.27%, 18.31%, 8.56%, 8.52% and 7.91%, respectively, as well as 0.97% for --Thai/αα. A total carrying rate of 13 kinds of β-thalassemia gene mutations was 10.07% (5 897/58 532), including 3.63% for CD41-42, followed by 2.55% for CD17, and 0.003% for -50 (G>A). Among 17 β-thalassemia genotypes, the most common six were CD41-42/N, CD17/N, CD71-72/N, CD26/N, 28/N and IVSI-1/N, accounting for 36.15%, 25.81%, 9.43%, 8.18%, 8.09% and 7.75%. The homozygous genotype CD26/CD26 [hemoglobin (Hb): 121 g/L] and -28/-28 (Hb: 56 g/L) were respectively detected in one case, and double heterozygous genotype were detected in 5 cases, including 3 cases of CD41-42/CD26 (Hb: 41 g/L, 51 g/L, 63 g/L, respectively), 1 case of -28/IVSI-1 (Hb: 53 g/L), and 1 case of CD71-72/CD26 (Hb: 89 g/L), in which patients with moderate or severe anemia had a history of blood transfusion. Among 104 α-combining β-thalassemia genotypes, the most common were --SEA/αα, -α3.7/αα combining CD41-42/N and --SEA/αα combining CD17/N, accounting for 12.13%, 9.63% and 9.26%, respectively. In addition, 1 case of --SEA/-α3.7 combining -28/IVSI-1 (Hb: 83 g/L) and 1 case of -α3.7/αα combining CD41-42/ CD41-42 (Hb: 110 g/L) were detected without history of blood transfusion, while 1 case of αWSα/αα combining CD41-42/CD17 (Hb: 79 g/L) and 1 case of --SEA/αα combining CD17/-28 (Hb: 46 g/L) were detected with history.
CONCLUSIONS:The detection rate of thalassemia genes is high and the mutations are diverse in the population of childbearing age in Chongzuo area of Guangxi. The common deletion genotype is --SEA/αα in α-thalassemia and CD41-42/N in β-thalassemia, and deletion genotype --Thai is not rare. There is a certain incidence of intermediate and severe β-thalassemia, and most patients require transfusion therapy. The results are beneficial for genetic consultation and intervention of thalassemia.
