Analysis of Gene Mutation Types of α- and β-Thalassemia in Fuzhou, Fujian Province in China

Abstract

The aim of this study was to explore the type and distribution of α- and β-thalassemia (α- and β-thal) mutations/deletions in Fuzhou, Fujian Province, People’s Republic of China (PRC). For patients whose mean corpuscular volume (MCV) and mean corpuscular hemoglobin (Hb) (MCH) conforms to the characteristics of thalassemia, gap-polymerase chain reaction (gap-PCR) and PCR-reverse dot-blot assays were used to detect α- and β-thal mutations/deletions. Four hundred and twenty-eight cases of thalassemia were detected in 752 suspected cases of thalassemia, including 248 cases of α-thal (57.9%), 175 cases of β-thal (40.9%), and five cases of compound α/β-thal (1.2%). The major genetic types of α-thal were – –^SEA (Southeast Asian; HBA1) and –α^3.7 (rightward; HBA2) deletions, and the carrier rate was 24.9 and 3.3%, respectively. The major genetic types of β-thal were IVS-II-654 (C>T) (HBB: c.316-197C>T), codons 41/42 (–TTCT) (HBB: c.126_129delCTTT), codon 17 (A>T) (HBB: c.52A>T), codons 27/28 (+C) (HBB: c.84_85insC) and –28 (A>G) (HBB: c.-78A>G), and the carrier rate was 9.8, 7.3, 3.5, 1.1 and 0.8%, respectively. The genotypes of α- and β-thal in Fuzhou (Fujian Province, PRC) are characterized by a wide range of distribution, high carrier rate, genetic diversity and genetic heterogeneity. Therefore, it is necessary to detect the thalassemia mutations in the suspected population of this area.

Keywords:

• α-Thalassemia (α-thal)
• β-thalassemia (β-thal)
• gene mutation type

Disclosure statement

The authors have no actual or potential conflicts of interest to declare.

Additional information

Funding

This research was supported by Natural Science Foundation of Fujian Province [Grant No. 2015J01327] and Fujian Provincial Health Bureau Youth Research Project [2016-1-77].