A Novel Frameshift Mutation( HBA2 :C.337delC) Associated With α-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China.

Autor:	Pan L, Wang Y; Department of Medical Genetics and Prenatal Diagnosis, Baoan Women's and Children's Hospital, Shenzhen, China., Lin H; Department of Medical Genetics and Prenatal Diagnosis, Baoan Women's and Children's Hospital, Shenzhen, China., Zhang X; Department of Medical Genetics and Prenatal Diagnosis, Baoan Women's and Children's Hospital, Shenzhen, China., Zhang R; Department of Medical Genetics and Prenatal Diagnosis, Baoan Women's and Children's Hospital, Shenzhen, China.
Jazyk:	angličtina
Zdroj:	Hemoglobin [Hemoglobin] 2024 May; Vol. 48 (3), pp. 200-202. Date of Electronic Publication: 2024 Apr 23.
DOI:	10.1080/03630269.2024.2344786
Abstrakt:	Here, we report a novel frameshift mutation caused by a single base deletion in exon 3 of the HBA2 gene ( HBA2 :c.337delC) detected by next-generation sequencing. The proband was a 26-year-old Chinese pregnant woman who originates from Hunan Province. Her mean corpuscular volume(MCV) and mean corpuscular hemoglobin (MCH) had a mild decrease. Capillary electrophoresis (CE) showed that both Hb A (97.8%) and Hb F (0.0%) values were within normal range, while the Hb A2 (2.2%) value was below normal. Sequence analysis of the α and β-globin genes revealed a novel single base deletion at codon 112 ( HBA2 :c.337delC) in the heterozygous state, which resulted in a mild phenotype of α-thalassemia.
Databáze:	MEDLINE
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