Genotype and Phenotype of α-Thalassemia Fusion Gene in Huadu District of Guangzhou, Guangdong Province of China.
10.19746/j.cnki.issn.1009-2137.2023.01.028
- Author:
Ai-Ping JU
1
;
You-Qiong LI
2
,
3
;
Keng LIN
1
;
Shu-Xian LIU
1
;
Yan-Ling QIN
1
;
Shao-Xin YUAN
1
;
Liang LIANG
4
Author Information
1. Department of Clinical Laboratory, Maternal and Child Health Hospital of District, Guangzhou 510800, Guangdong Prvince, China.
2. Center for Medical Genetic and Prenatal Diagnosis, the People's Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, Guangxi Zhuang Autonomous Region, China,E-mail: liyouqiong327@
3. com.
4. Center for Medical Genetic and Prenatal Diagnosis, the People's Hospital of Guangxi Zhuang Autonomous Region, Nanning 530021, Guangxi Zhuang Autonomous Region, China.
- Publication Type:Journal Article
- Keywords:
Huadu district;
fusion gene;
thalassemia
- MeSH:
Humans;
alpha-Thalassemia/genetics*;
Retrospective Studies;
beta-Thalassemia/genetics*;
Genotype;
Phenotype;
Heterozygote;
China;
Mutation
- From:
Journal of Experimental Hematology
2023;31(1):179-182
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the carrier rate, genotype and phenotype of α-thalassemia fusion gene in Huadu district of Guangzhou, Guangdong province of China, and provide data reference for the prevention and control of thalassemia.
METHODS:A total of 10 769 samples who were screened for thalassemia in Maternal and Child Health Hospital of Huadu District from July 2019 to November 2020 were analyzed retrospectively. Blood cell analysis and hemoglobin (Hb) electrophoresis were performed. Thalassemia genes were analyzed by gap-PCR and PCR-reverse dot blot hybridization (PCR-RDB).
RESULTS:A total of 9 cases with α-thalassemia fusion gene were detected in 10 769 samples (0.08%). There were 7 cases with fusion gene heterozygote, 1 case with compound of α-thalassemia fusion gene and Hb G-Honolulu, 1 case with compound of α-thalassemia fusion gene and Hb QS. The MCV results of 4 samples of blood cell analysis were within the reference range, the Hb A2 value of 1 case was decreased, and there were no other abnormalities found.
CONCLUSION:The α-thalassemia fusion gene is common in Huadu district of Guangzhou, and heterozygotes are more common, and current screening methods easily lead to misdiagnosis.
