Retrospective Analysis of Hematological Phenotypes in Patients with Gene Mutation and Deletion α-Thalassemia.
10.19746/j.cnki.issn.1009-2137.2021.04.038
- Author:
Wen-Huang XIE
1
;
Lin-Huan HUANG
2
;
Xue-Gao YU
3
;
Hao HUANG
3
;
Jia-Min HUANG
4
;
Pei-Song CHEN
5
Author Information
1. Department of Laboratory Medicine, Guangdong Second Provincial General Hospital, Guangzhou 510317, Guangdong Province, China.
2. Department of Obstetrics The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, Guangdong Province, China.
3. Department of Laboratory Medicine, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, Guangdong Province, China.
4. Genetic Center, Family Planning Special Hospital of Guangdong, Guangzhou 510600, Guangdong Province, China.
5. Department of Laboratory Medicine, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, Guangdong Province, China E-mail: 13570474904@163.com.
- Publication Type:Journal Article
- MeSH:
Genotype;
Humans;
Mutation;
Phenotype;
Retrospective Studies;
alpha-Thalassemia/genetics*
- From:
Journal of Experimental Hematology
2021;29(4):1262-1265
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the differences between hematological phenotypes of patients with different genotypes in gene mutations and deletion α- thalassemia.
METHODS:By screening the α- thalassemia gene test results in the First Affiliated Hospital, Sun Yat-Sen University from January 2015 to April 2020, the patients with mutation and deletion α- thalassemia were obtained, then the differences between hematological phenotypes of patients with different genotypes were analyzed.
RESULTS:There were 96 patients with mutation combined with deletion α- thalassemia from the results of 24 054 α- thalassemia patients screened out, including 79 patients with non-deletion Hb H disease (α
CONCLUSION:The hematological phenotype changes caused by α
