Spectrum of α-thalassemia and β-thalassemia mutations in the Guilin Region of southern China
2015; Elsevier BV; Volume: 48; Issue: 16-17 Linguagem: Inglês
10.1016/j.clinbiochem.2015.06.008
ISSN1873-2933
AutoresWenjun Tang, Chonglin Zhang, Fangfang Lu, Juan Tang, Lu Yu, Xiu Ji Cui, Xue Qin, Shan Li,
Tópico(s)Blood groups and transfusion
ResumoThalassemia is one of the most frequent hereditary hemoglobin (Hb) disorders in southern China. Accurate population frequency data are needed for planning the control of thalassemia in the high-risk Guilin, the southern region of China. Anemia patients (n = 11,143) from the Guilin Region of the Guangxi Zhuang Autonomous Region of southern China were analyzed by Gap-PCR, PCR-based reverse dot blot (RDB), and direct sequencing methods. Of these patients, 4365 (39.17%) were diagnosed with α-thalassemia (α-thal), 2643 (23.72%) with β-thalassemia (β-thal), and 263 (2.36%) as carriers of both α- and β-thal. The diagnosed α-thal anomalies were related to 6 gene mutations and 27 genotypes, with the most common α-thal mutations being —SEA (61.37%), − α3.7 (18.52%), − α4.2 (6.80%), and αCSα (6.64%). The β-thal anomalies were related to 14 gene mutations and 30 genotypes, with the seven most common mutations [CD41–42 (-TTCT) (52.02%), CD17 (A > T) (22.12%), IVS-II-654 (C > T) (11.29%), − 28 (A > G) (5.01%), CD71–72 (4.04%), CD26 (2.28%), and − 29 (1.83%)] accounting for 98.58% of the β-globin gene mutations. In addition, CD37 (TGG → TAG) and CD 30 (A → G) were two particularly rare dominant β-thal mutations in Chinese populations. Our data suggested that the population in Guilin are at high risk of α- and β-thalassemia. The results of this study will be useful for genetic counseling and the prevention of severe thalassemia in the Guilin Region.
Referência(s)