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

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 - - (Southeast Asian; HBA1) and -α (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.