Detection of the HBB: c.393T>G Mutation in Two Patients with Hypochromic Microcytic Anemia

Abstract

A novel mutation, HBB: c.393T>G on the HBB gene, was detected in two hypochromic microcytic anemia patients from Yulin, in the Guangxi Province of the People’s Republic of China (PRC), by next-generation sequencing (NGS). It is a nonsense mutation causing a stop codon at amino acid 131 in exon 3 of the HBB gene. It was found in a heterozygous state in two patients who both presented severe anemia during pregnancy and moderate anemia before pregnancy; Hb A₂ levels were slightly increased (more than 4.0%) in both patients. It was also detected in the father of one of the patients. This mutation was pathogenic, and caused the dominant thalassemia-like phenotypes in the two patients.

Keywords:

• β-thalassemia (β-thal)
• next-generation sequencing (NGS)
• novel mutation

Disclosure statement

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article. The funding source did not play a role in the samples collection, data interpretation, the writing of the manuscript, as well as the decision of the manuscript publication.

Additional information

Funding

The study was supported by the Natural Science Foundation of Guangdong Province, China [2018A030310050].