关键词: 地中海贫血；婴儿, 新生；干血斑；基因筛查；海南省

Abstract: Background　Since 2012，Hainan Province has been committed to prenatal thalassemia screening to reduce the low birth rate of thalassemia children. However，the prevention and control of neonatal thalassemia is still a weak board in our province. Objective　To investigate the carrying status of thalassemia-causing genes and genetic characteristics of thalassemia in Baisha Li Autonomous County，Hainan Province. Methods　According to the principle of voluntary informed consent，912 newborns born in themidwifery Baisha Li Autonomous County of Hainan Province units in 2020 were collected with dried blood spots on the heels. Fluorescent PCR melting curve method was used to detect the common thalassemia genes in Chinese，and some samples were verified by PCR + flow-through hybridization method. Genetic testing kits suggested that samples with suspected new mutations were sent to the genetic company for analysis and verification. Results　（1）Among the 912 samples，608 thalassemia genes were detected，the carrying rate of thalassemia genes in the newborn population in Baisha Li Autonomous County was 66.7% （608/912）. The number of α，β，and α compound β thalassemia genes detected were 521，25，and 62，respectively. The top three genotypes of α-thalassemia gene detected were –α3.7/αα（26.3%）, -α4.2/αα（23.8%），and αWSα/αα（12.7%），respectively. Three rare genotypes of thalassemia gene，-α4.2/HKαα，c.118C>T，and c.309C>T，were also detected.（2） Divided by ethnicity groups，the thalassemia gene carrier rates in newborn populations of Han，Li and other ethnic minorities were 51.5% （175/340），76.7% （414/540） and 59.4% （19/32），respectively. Conclusion　The thalassemia gene carrier rate is high in the newborn population of Baisha Li Autonomous County，Hainan Province，and the thalassemia genotypes are abundant. The alpha thalassemia genotype is the most common，and the Li nationality newborn population has the highest carrier rate.

Key words: Neonatal thalassemia；Baby, newborn；Dried blood；Genetic screening；Hainan