Genetic screening results of thalassemia in Guangdong

Abstract

Objective To investigate the molecular epidemiological characterization of thalassmemia in Guangdong Province, China. Methods Peripheral blood or amniotic fluid samples were collected from 2 680 individuals with suspected β-thalassaemia or abnormal haemoglobin variants at Sun Yat-sen Memorial Hospital in 2017. Detection of 3 known α-globin gene deletion was performed by gap-polymerase chain reaction methods. Moreover, detection of 3 known α-globin gene mutations (αCS, αQS and αWS) and 17 known β-globin gene mutations were performed by reverse dot-blot polymerase chain reaction methods. Results A frequency of thalassemia of 47.13% (1 263/2 680) was found. We found that 62.23% (786/1 263) of thalassemic patients carried α-thalassemia, 32.22% (407/1263) β-thalassemia, and 4.54% (70/1263) both α- and β-thalassemia. Conclusions In our study, the most common α-thalassemia mutations are αα/- -(SEA)), while the most common β-thalassemia mutations are CD41-42, IVS-Ⅱ-654, -28, CDl7, and CD71-72. This helps us know the basic epidemiological data for thalassemia screening in Guangdong Province. Key words: Thalassemia; Genetic testing; Globins