Combination of Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G] and β⁰-Thalassemia in a Chinese Patient with β-Thalassemia Intermedia

Abstract

We first report a novel β chain variant, Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G], in a Chinese family. Heterozygous inheritance of the mutation results in a mild β-thalassemia (β-thal) phenotype, whereas compound heterozygosity of Hb Heze with β⁰-thal appears as the cause of β-thal intermedia (β-TI) in our case.

Keywords:

• β-Chain variant
• β-thalassemia (β-thal)
• hemoglobin (Hb) variant

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 Guangdong Provincial Department of Science and Technology Agency [2016A020215218].