Wenjun Tang1, Chonglin Zhang2, Fangfang Lu3, Juan Tang4, Yu Lu5, Xiu Cui6, Xue Qin7, Shan Li8. 1. Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. Electronic address: tangwenjun56@qq.com. 2. Department of Clinical Laboratory, Guilin Women and Children Care Hospital, Guilin, Guangxi, China. Electronic address: 1019953306@qq.com. 3. Department of Obstetrics and Gynecology, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. Electronic address: 2842322584@qq.com. 4. Department of Clinical Laboratory, Guilin Women and Children Care Hospital, Guilin, Guangxi, China. Electronic address: 875200286@qq.com. 5. Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. Electronic address: twj.abc@163.com. 6. Department of Clinical Laboratory, Guilin Women and Children Care Hospital, Guilin, Guangxi, China. Electronic address: 540925911@qq.com. 7. Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. Electronic address: qinxue919@126.com. 8. Department of Clinical Laboratory, First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi, China. Electronic address: lis8858@126.com.
Abstract
BACKGROUND AND AIMS: Thalassemia 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. METHODS: 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. RESULTS: 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%), -α(3.7) (18.52%), -α(4.2) (6.80%), and α(CS)α (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. CONCLUSIONS: 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.
BACKGROUND AND AIMS: Thalassemia 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. METHODS:Anemiapatients (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. RESULTS: 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%), -α(3.7) (18.52%), -α(4.2) (6.80%), and α(CS)α (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. CONCLUSIONS: 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.