[Molecular Diagnosis and Pedigree Analysis of Rare Mutations in Non-coding Region of HBA2 Gene].
Zhongguo Shi Yan Xue Ye Xue Za Zhi
; 32(3): 940-944, 2024 Jun.
Article
in Zh
| MEDLINE
| ID: mdl-38926992
ABSTRACT
OBJECTIVE:
To perform molecular diagnosis and pedigree analysis for one case with α-thalassemia who does not conform to the genetic laws, and explore the effects of a newly discovered rare mutation (HBA2c.*12G>A) on clinical phenotypes.METHODS:
Blood samples of the proband and her family members were collected for blood routine analysis, and the hemoglobin components were analyzed by capillary electrophoresis. The common α- and ß-globin gene loci in Chinese population were detected by conventional techniques (Gap-PCR, RDB-PCR). The α-globin gene sequences (HBA1, HBA2) were analyzed by Sanger sequencing.RESULTS:
By analyzing the test results of proband and her family members, the genotype of the proband was -α3.7/HBA2c.*12G>A, her father was HBA2c.*12G>A heterozygous mutation carrier.CONCLUSION:
This study identifies a rare α-globin gene mutation (HBA2c.*12G>A) that has not been reported before. It is found that heterozygous mutation carriers present with static α-thalassemia.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Hemoglobin A2
/
Alpha-Thalassemia
/
Alpha-Globins
Limits:
Female
/
Humans
/
Male
Language:
Zh
Journal:
Zhongguo Shi Yan Xue Ye Xue Za Zhi
Year:
2024
Document type:
Article