Molecular characterization of α- and β-thalassemia in the Yulin region of Southern China

Thalassemia is one of the most common hereditary blood disorders. Epidemiological data regarding the prevalence and distribution of mutations is important for planning a thalassemia control program. To reveal the prevalence of thalassemia and mutation spectrum in the Yulin region of southern China, we screened 130,318 individuals from Yulin region by hematological and genetic analysis. Totally, 24,886 (19.10%) subjects were diagnosed with thalassemia, including 16,308 (12.51%) subjects with alpha-thalassemia alone, 6658 (5.11%) subjects with beta-thalassemia alone and 1920 (1.47%) subjects with both alpha- and beta-thalassemia. Ten alpha-thalassemia mutations were identified in the alpha-thalassemia subjects, with the common alpha-thalassemia mutations being-(SEA) mutation (51.91%), -alpha(3.7) (19.90%), alpha(cs)alpha (10.58%), -alpha 4.2 (8.13%), alpha(ws)alpha (7.67%). Thirteen beta-thalassemia mutations and 31 genotypes were characterized in the beta-thalassemia subjects. The seven common mutations [CD41-42 (-CTIT) (43.31%), CD17 (A > T) (34.58%), CD26 (G > A) (6.86%), CD71-72 (+A) (4.25%), -28 (A > G) (3.90%), IVS-II-654 (C > T) (3.53%) and IVS-I-1 (G > T) (2.22%)] accounted for 98.65% of all beta-thalassemia defects. Furthermore, 6 cases of alpha-triplication and 3 cases of mutation-alpha(2.4) were first identified in this region. Our data illustrated that there was great heterogeneity and extensive spectrum of thalassemias in the Yulin populations. The findings will contribute an available reference for prevention of thalassemia in this region.