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
Dans Anglais
| WPRIM
| ID: wpr-921335
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 --
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Chine
/
Analyse de séquence d'ADN
/
Bêta-Thalassémie
/
Alpha-Thalassémie
/
Génotype
/
Mutation
Type d'étude:
Étude pronostique
Limites du sujet:
Adulte
/
Femelle
/
Humains
/
Mâle
Pays comme sujet:
Asie
langue:
Anglais
Texte intégral:
Biomedical and Environmental Sciences
Année:
2021
Type:
Article
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