Objective: To investigate the gene prevalence and spectrum of thalassemia in the women of childbearing age in quanzhou area.
Methods: Venous blood of the women were collected for study, all subjects were registered in each county of quanzhou area by using cluster sampling. Both the mean corpuscular volume (MCV) and mean corpuscular hemoglobin (MCH) were used for screening thalassemia．Genotyping of the screened positive samples was performed by gap single polymerase chain reaction (gap-PCR) and reverse dot blot (RDB) hybridization．Unknown positive samples were analyzed with DNA sequencing.
Results: Out of all 7 082 samples, Three hundred and eighty four were identified as thalassemia gene carriers with a carrying rate of 5.42 %. The α and β thalassemia were 3.21% and 2.15% respectively. --SEA /αα was the most common genotype with 68.72 % in mutation types of α thalassemia, In addition gene, 2 cases of --THAI/αα and 1 case of αα/αααanti3.7 were also detected. IVS-Ⅱ-654/N and CD41-42/N were the most common gentypes with 75.00 % in mutation types of β thalassemia gene, 5 cases were found to be α β compogite thalassemia.
Conclusion: The carrying rate of thalassemia gene in quanzhou area is higher, and with the most common gentypes including --SEA /αα、IVSⅡ-654(C→T)/N and CD41-42(-TTCT)/N. The study results are beneficial for the screening of thalassemia in the genetic consultation and the prenatal gene diagnosis.