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NGS-based screening identifies rare and novel thalassemia mutations in Ganzhou, China

Around 5.2% of the global population carries abnormal hemoglobin genes. Each year, 300,000 to 500,000 children are born with severe hemoglobinopathies worldwide, with approximately 80% of these cases occurring in developing countries. ....

Tong Yang , Phnom Penh , Yanqiu Liu , Wenqian Zhang , Xuemei Luo , Lily Ramsey , Clinical Research , Middle East , Southeast Asia , Senior Manager Clinical Research , Human Genomics , Free Gene Detection , Ganzhou City , Jiangxi Province , Generation Sequencing , Ethics Committee , First Affiliated Hospital , Gannan Medical ,

Uncovering thalassemia diversity in southern

Thalassemia is the most common hereditary hemoglobinopathy and occurs in 4.4 out of every 10,000 live births. It is prevalent in Mediterranean coastal areas, Africa, the Middle East, Southeast Asia, and southern China. This new study by Tong Yang, Xuemei Luo, Yanqiu Liu, Wenqian Zhang (BGI Genomics, Senior Manager Clinical Research) et al. published on August 18, 2023 in Human Genomics looks at the prevalence and mutation spectrum of thalassemia in Ganzhou based on a large-scale thalassemia screening project involving 136,312 individuals. ....

Phnom Penh , Tong Yang , Wenqian Zhang , Yanqiu Liu , Xuemei Luo , Shenzhen Stock Exchange , Thalassaemia International Federation , Clinical Research , Method Of Research , Ganzhou Municipal Health Commission , World Health Organization , Bulletin Of The World Health Organization , Middle East , Southeast Asia , Senior Manager Clinical Research , Human Genomics , Free Gene Detection , Ganzhou City , Jiangxi Province , Generation Sequencing , Ethics Committee , First Affiliated Hospital , Gannan Medical , Haemoglobin Disorders , Thalassaemia International , Zhongt Y ,