Molecular Spectrum of α- and β-Thalassemia among Young Individuals of Marriageable Age in Guangdong Province, China / 生物医学与环境科学(英文)
Biomedical and Environmental Sciences
; (12): 824-829, 2021.
Article
in English
| WPRIM (Western Pacific)
| ID: wpr-921335
Responsible library:
WPRO
ABSTRACT
Thalassemia is a group of genetically heterogeneous diseases characterized by hemolytic anemia. To investigate molecular characteristics of α- and β-thalassemia among young individuals of marriageable age in Guangdong Province, 24,788 subjects with suspected thalassemia were genetically tested for α- and β-thalassemia by Gap-PCR and reverse dot blot during 2018-2019. For suspected rare thalassemia cases, DNA sequencing was performed to identify rare and unknown thalassemia gene mutations. A total of 14,346 thalassemia carriers were detected, including 7,556 cases of α-thalassemia with 25 genotypes and 8 α-gene mutations identified, 5,860 cases of β-thalassemia with 18 genotypes and 18 β-gene mutations identified, and 930 cases of compound α/β-thalassemia. Among them, the frequency of --
Full text:
Available
Database:
WPRIM (Western Pacific)
Main subject:
China
/
Sequence Analysis, DNA
/
Beta-Thalassemia
/
Alpha-Thalassemia
/
Genotype
/
Mutation
Type of study:
Prognostic study
Limits:
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
English
Journal:
Biomedical and Environmental Sciences
Year:
2021
Document type:
Article