Analysis of Gene Mutation Types in 141 Cases of α-Thalassemia in Honghe Prefecture, Yunnan Province.
10.19746/j.cnki.issn.1009-2137.2021.02.046
- Author:
Hong-Ying ZHAO
1
;
Xi YE
1
;
Hai-Xia WANG
2
;
Yan-Fen HE
3
Author Information
1. Department of Tumor and Hematology, The First People's Hospital of Honghe State, Mengzi 661100, Yunnan Province, China.
2. Department of Hematology, The First Affiliated Hospital of Dali University, Dali 671000, Yunnan Province, China.
3. Department of Tumor and Hematology, The First People's Hospital of Honghe State, Mengzi 661100, Yunnan Province, China,E-mail: 24862416146@qq.com.
- Publication Type:Journal Article
- MeSH:
China;
Female;
Genotype;
Heterozygote;
Humans;
Mutation;
alpha-Thalassemia/genetics*;
beta-Thalassemia
- From:
Journal of Experimental Hematology
2021;29(2):596-620
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To detecte the carrying rate, the type and distribution of α-Thalassemia gene mutation in Honghe Prefecture, Yunnan Province, and analyze the differences in average erythrocyte volume (MCV), mean erythrocyte hemoglobin content (MCH) and hemoglobin among different types of α-Thalassemia.
METHODS:The DNA samples from small cell hypochromic carriers or anemia patients and women of childbearing age who underwent hematological screening in The First People's Hospital of Honghe State was from 2015 to 2019 were enrolled and analyzed, and the mutation types and frequency of alpha-thalassemia positive rate were diagnosed by PCR reverse dot blot or PCR fluorescence dissolution curve.
RESULTS:Among the 1 016 samples, 141(13.88%) of the patients were diagnosed as α-thalassemia. The α-thalassemia was subdivided into 3 types, silent (36.17%), minor (51.77%), and HbH disease (12.06%), and the MCV, MCH and HB levels were detected and showed a obvious decrease trend with significant difference (P < 0.05). The gene mutation types were 9 kinds, the deletion type gene was mainly --SEA (51.06%), followed by -α
CONCLUSION:Alpha-thalassemia in Honghe prefecture of Yunnan Province shows complex genetic diversity and significant genetic heterogeneity, and the mainly type of gene mutation is --SEA and --
