A Novel Frameshift Mutation(<i>HBA2</i>:C.337delC) Associated With &#945;-Thalassemia Trait Detected by Next-Generation Sequencing in Southern China.

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

Pan, Lei; Wang, Yan; Lin, Haiying; Zhang, Xiufa; Zhang, Rui.

Afiliação

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.

Hemoglobin ; : 1-3, 2024 Apr 23.

Article em En | MEDLINE | ID: mdl-38653553

ABSTRACT

Here, we report a novel frameshift mutation caused by a single base deletion in exon 3 of the HBA2 gene (HBA2c.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 ß-globin genes revealed a novel single base deletion at codon 112 (HBA2c.337delC) in the heterozygous state, which resulted in a mild phenotype of α-thalassemia.

Palavras-chave

HBA2 gene; frameshift mutation; next generation sequencing; α-thalassemia