Mengi Li1, Song-He Xiang2, Yi Ding1, Wen-Wen Liu1, Yuan-Yuan Xu2, Jian Bo3. 1. Department of Hematology, Chinese PLA General Hospital, Beijing 100853, China. 2. Department of Hematology, Hainan Branch of Chinese PLA General Hospital, Sanya 572000, Hainan Province, China. 3. Department of Hematology, Chinese PLA General Hospital, Beijing 100853, China Department of Hematology, Hainan Branch of Chinese PLA General Hospital, Sanya 572000, Hainan Province, China E-mail: boj301@sina.com.
Abstract
OBJECTIVE: To explore the frequency and spectrum of thalassemia gene mutations of the population in Sanya area of Hainan province in China. METHODS: The type and frequency of gene mutation in 1060 patients with suspected thalassemia were analyzed by Gap-PCR and reverse dot blot (RDB). RESULTS: The detection on mutation of thalassemia gene were found in 539 suspected thalassemia patients, the total detected rate was 50.85% (539/1060), out of them 330 (31.13%) were diagnosed with α-thalassemia, 162 (15.28%) with β-thalassemia, and 47 (4.43%) as carriers of both α and β-thalassemia. In α-thalassemia patients, genotype were as follows in proper order--SEA/αα (9.25%)、-α 4.2/αα (5.94%)，HbH (5.56%)，-α 3.7/αα (5.00%)，-α 3.7/-α 4.2 (2.36%)，-α 4.2/-α 4.2 (1.70%), and -α3.7/-α3.7(1.32%). In β-thalassemia patients, there were 9 gene mutations: CD41-42 (9.8%), CD17 (1.32%), 654 (1.23%), CD71-72 (1.23%), IVS-II-654 (1.04%), -28 (0.37%), CD43 (0.19%), -29 (0.18%) and βE (0.09%). In the α and β composite thalassemia there were 12 genotypes. The -α3.7/αα was the most common genotype co-existed with β-thalassemia (1.70%), followed by the -α 4.2 /αα genotype (0.94%). CONCLUSION: The data of this study provide the frequency and the spectrum of thalassemia gene mutations in the sanya area of Hainan province, which can contribute to set up the strategies for the prevention and control of thalassemia in this area.
OBJECTIVE: To explore the frequency and spectrum of thalassemia gene mutations of the population in Sanya area of Hainan province in China. METHODS: The type and frequency of gene mutation in 1060 patients with suspected thalassemia were analyzed by Gap-PCR and reverse dot blot (RDB). RESULTS: The detection on mutation of thalassemia gene were found in 539 suspected thalassemiapatients, the total detected rate was 50.85% (539/1060), out of them 330 (31.13%) were diagnosed with α-thalassemia, 162 (15.28%) with β-thalassemia, and 47 (4.43%) as carriers of both α and β-thalassemia. In α-thalassemiapatients, genotype were as follows in proper order--SEA/αα (9.25%)、-α 4.2/αα (5.94%)，HbH (5.56%)，-α 3.7/αα (5.00%)，-α 3.7/-α 4.2 (2.36%)，-α 4.2/-α 4.2 (1.70%), and -α3.7/-α3.7(1.32%). In β-thalassemiapatients, there were 9 gene mutations: CD41-42 (9.8%), CD17 (1.32%), 654 (1.23%), CD71-72 (1.23%), IVS-II-654 (1.04%), -28 (0.37%), CD43 (0.19%), -29 (0.18%) and βE (0.09%). In the α and β composite thalassemia there were 12 genotypes. The -α3.7/αα was the most common genotype co-existed with β-thalassemia (1.70%), followed by the -α 4.2 /αα genotype (0.94%). CONCLUSION: The data of this study provide the frequency and the spectrum of thalassemia gene mutations in the sanya area of Hainan province, which can contribute to set up the strategies for the prevention and control of thalassemia in this area.