RESUMEN
OBJECTIVE: To study the distribution characteristics of thalassemia genotype in Han Population in Sanya of Hainan Province. METHODS: Gap PCR and reverse dot hybridization were used to detect and analyze the thalassemia gene in 572 suspected thalassemia carriers of Han Population in Sanya. RESULTS: Among the 572 Han Population in Sanya, 271 cases of thalassemia gene abnormality were detected, among which 161 cases were founded to be carriers of α-thalassemia gene. A total of 9 genotypes were detected, in the following order of the detection rate was ï¼ï¼SEA/ααï¼ï¼α3.7/ααï¼ï¼α4.2/ααï¼ï¼ï¼SEA/ï¼α3.7ï¼ï¼ï¼SEA/ï¼α4.2ï¼ï¼α4.2/ï¼α4.2ï¼ï¼α3.7/ï¼α4.2ï¼ï¼α3.7/ï¼α3.7ï¼ï¼ï¼SEA/ï¼ï¼SEA. Among them, the deletion type (ï¼ï¼SEA/αα) in southeast Asia was the most common, accounting for 66 cases. 99 cases of ß-thalassemia were detected, there were 7 genotypes, all of which were heterozygous. The order of the detection rate was CD41-42/ßN, IVS-II-654/ßN, CD17/ßN, CD71-72/ßN, -28/ßN, ï¼29/ßN, CD27-28/ßN. Among them, CD41-42/ßN was the most common, accounting for 51 cases. In addition, 11 cases of combined α and ß thalassemia were detected. Five kinds of genotypes were checked out, the order of detection rate was ï¼α3.7/αα composite CD41-42/ßN, ï¼ï¼SEA/αα composite IVS-II-654/ßN, ï¼α4.2/ï¼α4.2 composite CD41-42/ßN, ï¼α4.2/αα composite ï¼29/ßN , ï¼ï¼SEA/ ï¼α4.2 composite CD41-42/ßN. CONCLUSION: Han Population in Sanya of Hainan Province is a high-risk population of thalassemia, the genotype characteristics are different from other areas with high incidence of thalassemia in China. The main type of α-thalassemia is the deficiency mutation of southeast Asia, while CD41-42 heterozygous mutation is the main type of ß-thalassemia.
