Identification of Two Novel β-Thalassemia Mutations (HBB: c.335-346del and HBB: c.108 C > G) in Han Chinese

Abstract

β-Thalassemia (β-thal) is an inherited blood disorder characterized by reduced or absent synthesis of the β chains of hemoglobin (Hb). Although a number of causative mutations have been reported, here we report two novel mutations detected in Chinese patients. Red blood cell (RBC) indices were indicative of β-thal, but no mutations were detected by routine methods. Sequencing of the β-globin gene uncovered one mutant with a 12 bp deletion (TCTGTGTGCTGG) from codon 111 to codon 115 (HBB: c.335-346del12bp) in exon 3. The other was found to be a nonsense mutation at codon 35 (HBB: c.108 C > G). The identification of these novel mutations will facilitate future diagnoses of β-thal caused by either of these mutations and will also be useful for genetic counseling and prenatal diagnosis.

• β-Globin
• β-thalassemia (β-thal)
• Chinese
• hemoglobin (Hb)
• novel mutation

Declaration of interest

This study was supported by Jiangsu Provincial Special Program of Medical Science (BL2012005) Jiangsu Province’s Key Medical Center (ZX201102). The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.