Li Zesong, Li Fangfang, Li Ming, Guo Runjun, Zhang Wen
Shenzhen YiShengTang Biological Products Co. Ltd., Shenzhen, Guangdong, People's Republic of China.
Hemoglobin. 2006;30(1):9-14. doi: 10.1080/03630260500453818.
Thalassemia (thal) is the most common autosomal disorder in southern China. The aim of the present study was to investigate the prevalence and spectrum of thalassemia mutations in the population of Shenzhen, Guangdong Province. In total, 3,711 samples from two hospitals in Shenzhen were subjected to hematological and molecular analysis. Of these, 241 (6.49%) were carriers of thalassemias, of which 161 (4.34%) had alpha-thal, 74 (1.99%) had beta-thal, and six (0.16%) had both alpha- and beta-thal. Three deletional and one nondeletional alpha-thal mutation, and nine beta-thal mutations were identified. Compared with other areas in Guangdong Province, the prevalence of thalassemia in Shenzhen was lower, while there was no evident difference for the spectrum of mutations. These results will provide a reference for prenatal testing and genetic counseling in the area.
地中海贫血（简称地贫）是中国南方最常见的常染色体疾病。本研究旨在调查广东省深圳市人群地贫突变的患病率及突变谱。总共对深圳市两家医院的3711份样本进行了血液学和分子分析。其中，241例（6.49%）为地贫携带者，其中161例（4.34%）为α地贫，74例（1.99%）为β地贫，6例（0.16%）同时携带α地贫和β地贫。共鉴定出3种缺失型和1种非缺失型α地贫突变，以及9种β地贫突变。与广东省其他地区相比，深圳市地贫的患病率较低，而突变谱没有明显差异。这些结果将为该地区的产前检测和遗传咨询提供参考。
