XU Qiyu,ZHOU Wu,QIAN Jingjing, et al. Analysis of thalassemia gene mutation types in Wenzhou[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2017, 47(11): 840-843.
Abstract：Objective: To investigate the gene mutation type and constituent ratio of thalassemia, so as to provide prenatal and postnatal care. Methods: Nine hundred and ninety one suspected thalassemia patients from the First Affiliated Hospital of Wenzhou Medical University and the Second Affiliated Hospital of Wenzhou Medical University were included. GAP-PCR method and reverse dot blot (RDB) method were adopted to detect 3 common gene deletions in α-gene mutation and 3 point mutation in α-gene mutation, 17 common mutation sites in β-gene mutation. Results: From 991 suspected thalassemia patients, 431 thalassemia cases were detected (43.49%), including 155 α-thalassemia mutations and 276 β-thalassemia mutations. Southeast Asia deletion--SEA/αα (accounted for 67.10%) was the major types of α-thalassemia mutations. For β-thalassemia patients, the hot spots of mutation was CD41-42 (accounted for 35.87%). α-thalassemia combined with β-thalassemia were detected in 7 patients. Conclusion: α and β-thalassemia in populations of Wenzhou are complex. In order to provide valuable information with genetic counseling and clinical therapy, it is important to strengthen genetic diagnosis.
