The frequency of HKαα allele in silent deletional α-thalassemia carriers in the Yulin region of southern China using the third-generation sequencing.
Gene
; 875: 147505, 2023 Jul 30.
Article
en En
| MEDLINE
| ID: mdl-37217151
ABSTRACT
OBJECTIVES:
α-thalassemia is relatively prevalent in Yulin Region in southern China. In order to accurately detect α-globin gene aberrations for genetic counseling, the prevalence of HKαα (Hong Kong αα) allele in this subpopulation of silent deletional α-thalassemia were examined. MATERIALS ANDMETHODS:
A total of 1845 subjects were selected in Yulin Region from January 2021 to March 2021. Peripheral blood was collected from each participant for routine genetic analysis of thalassemia. The HKαα allele was determined using the Single-molecule real-time (SMRT) technology for samples with -α3.7/αα, ßN/ßN genotype.RESULTS:
Two samples were identified with HKαα allele from 100 samples with -α3.7/αα, ßN/ßN genotype. The frequency of HKαα allele was 2.0â¯% (2/100) in -α3.7/αα, ßN/ßN carriers in Yulin Region. One sample was identified with a novel variant of the α-globin gene cluster named αHKαα by SMRT technology. One rare HBA2 variant and six HBB variants were found by SMRT technology, including -α3.7/HBA2c.300â¯+â¯34Gâ¯>â¯A, HBBc.316-45Gâ¯>â¯C/ßN, HBBc.315â¯+â¯180â¯Tâ¯>â¯C/ßN, HBBc.316-179Aâ¯>â¯C/ßN.CONCLUSION:
A certain proportion of HKαα allele had been detected in Yulin Region. SMRT technology plays a crucial role for improving the diagnostic accuracy and positive detection rate of thalassemia. The completion of this study has great meaning for strengthening the prevention and control of thalassemia in Yulin Region.Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Talasemia beta
/
Talasemia alfa
Tipo de estudio:
Risk_factors_studies
Límite:
Humans
País/Región como asunto:
Asia
Idioma:
En
Revista:
Gene
Año:
2023
Tipo del documento:
Article
País de afiliación:
China