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Background: Thalassemia is a group of inherited autosomal recessive hemolytic anemia disease caused by reduced or absent synthesis of globin chain/chains of hemoglobin. Only few studies showed the molecular characterization of α- and β-thalassemia in Meizhou city of China., Methods: A total of 22,401 individuals were collected; hematological and hemoglobin electrophoresis analysis and thalassemia genetic testing were performed., Results: Eleven thousand and thirty (49.24%) cases with microcytosis (mean corpuscular volume (MCV) < 82 fl), 11,074 (49.44%) cases with hypochromia (mean corpuscular Hb (MCH) < 27 pg) in 22,401 subjects, 11,085 cases with abnormal hemoglobin results were identified in subjects aged ≥6 months. 7,322 (32.69%) subjects harbored thalassemia mutations, including 4,841 (21.61%) subjects with α-thalassemia, 2,237 (9.99%) with β-thalassemia, and 244 (1.09%) with α-thalassemia combined β-thalassemia. 18 genotypes of α-thalassemia mutations and 27 genotypes of β-thalassemia mutations were characterized. The most frequent α gene mutation was -- SEA (64.69%), followed by -α 3.7 (19.93%), -α 4.2 (7.73%), α CS α (3.97%), and α WS α (2.83%). The six most common β-thalassemia mutations were IVS-II-654 (C>T) (39.79%), CD41-42 (-TCTT) (33.02%), -28 (A>G) (10.38%), CD17 (A>T) (9.08%), CD27-28 (+C) (2.14%), and CD26 (G>A) (2.02%). In addition, MCV and MCH were sensitive markers for α- and β-thalassemia except for -α 3.7 /αα, -α 4.2 /αα, α CS α/αα, α WS α/αα, and β Cap+40-43 /β N ., Conclusions: The -- SEA , -α 3.7 , and -α 4.2 deletions were the main mutations of α-thalassemia, while IVS-II-654 (C>T), CD41-42 (-TCTT), -28 (A>G), and CD17 (A>T) mutations of β-thalassemia in Meizhou. There were some differences in thalassemia mutation frequencies in Meizhou city from other populations in China., (© 2021 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals LLC.)

Objective: The aim of the study was to explore genotype distribution thalassemia and G6PD deficiency in Meizhou city, China., Methods: A total of 16 158 individuals were involved in thalassemia genetic testing. A total of 605 subjects were screened for common Chinese G6PD mutations by gene chip analysis. Genotypes and allele frequencies were analyzed., Results: A total of 5463 cases carried thalassemia mutations were identified, including 3585 cases, 1701 cases, and 177 cases with α-, β-, and α + β-thalassemia mutations, respectively. -- SEA (65.12%), -α 3.7 (19.05%), and -α 4.2 (8.05%) deletion were the main mutations of α-thalassemia, while IVS-II-654(C → T) (40.39%), CD41-42(-TCTT) (32.72%), -28(A → G) (10.11%), and CD17(A → T) (9.32%) mutations were the principal mutations of β-thalassemia in Meizhou. There were significant differences in allele frequencies in some counties. Genetic testing for G6PD deficiency, six mutation sites, and one polymorphism were detected in our study. A total of 198 alleles with the mutation were detected among 805 alleles (24.6%). G6PD Canton (c.1376 G → T) (45.96%), G6PD Kaiping (c.1388 G → A) (39.39%), and G6PD Gaohe (c.95 A → G) (9.09%) account for 94.44% mutations, followed by G6PD Chinese-5 (c.1024 C → T) (4.04%), G6PD Viangchan (c.871G → A) (1.01%), and G6PD Maewo (c.1360 C → T) (0.51%). There were some differences of the distribution of G6PD mutations among eight counties in Meizhou., Conclusions: The -- SEA , -α 3.7 , and -α 4.2 deletion were the main mutations of α-thalassemia, while IVS-II-654(C → T), CD41-42(-TCTT), -28(A → G), and CD17(A → T) mutations were the principal mutations of β-thalassemia in Meizhou. G6PD c.1376 G → T, c.1388 G → A, and c.95 A → G were the main mutations of G6PD deficiency. There were some differences of the distribution of thalassemia and G6PD mutations among eight counties in Meizhou., (© 2019 The Authors. Journal of Clinical Laboratory Analysis published by Wiley Periodicals, Inc.)