A β-Thalassemia Trait with Two Mutations in Cis in a Chinese Family

Abstract

A female of Chinese origin carried the codon 43 (G>T) (HBB: c.130G > T) and codons 71/72 (+A) (HBB: c.216_217insA) mutations of the β-globin gene in cis, identified during prenatal thalassemia screening. The double in cis mutations were inherited from her mother. Both of the two carriers behave as a traditional heterozygote for β-thalassemia (β-thal) with microcytosis and a high Hb A₂ level. This case report indicates that the possibility of multiple mutations in cis in a fetus with thalassemia trait has to be considered in a prenatal screening program.

Keywords:

• β–Thalassemia (β-thal)
• mutations in cis
• prenatal diagnosis (PND)
• reverse dot-blot hybridization

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 a grant from Guangzhou Institute of Pediatrics/Guangzhou Women and Children’s Medical Centre [IP-2019-004].