Dominantly Inherited β-Thalassemia Caused by a Single Nucleotide Deletion in Exon 3 of the β-Globin Gene: Hb Xiangyang (HBB: c.393delT)

Abstract

We report a de novo frameshift mutation in exon 3 of the β-globin gene that leads to a β-thalassemia (β-thal) intermedia (β-TI) phenotype in a 6-year-old Chinese boy. This novel mutation with deletion of the last nucleotide (–T) at codon 130 results in a β-globin chain that is extended to 156 amino acid residues. This study highlights the importance of considering dominantly inherited β-thal in the investigation of anemia, even in patients with ethnic backgrounds not usually associated with β-thal and hematologically normal parents.

Keywords:

• Abnormal hemoglobin (Hb) variant
• dominantly inherited β-thalassemia (β-thal)
• Hb Xiangyang
• inclusion bodies

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.

Additional information

Funding

This study was supported by grants from the Provincial Department of Science and Technology Agency of Guangdong [2021A1515220088] and the Guangzhou Institute of Pediatrics/Guangzhou Women and Children’s Medical Center [IP-2019–004], Guangzhou, Guangdong Province, People’s Republic of China.