Abstract OBJECTIVE: To investigate the types and frequency of gene mutations in children with thalassemia in Kunming, Yunan Province. METHODS: A biochemical screening for thalassemia was performed by testing RBC fragility, MCV and hemoglobin electrophoresis on 1338 children from Kunming, Yunnan Province. Genetic diagnosis was performed on the children with α-thalassemia by gap-PCR and on the children with β-thalassemia by PCR-RDB. RESULTS: The positive rate of the biochemical screening for thalassemia was 11.36% (152 cases). The positive rate of genetic diagnosis was 8.59% (115 cases). Of the 115 cases, α-thalassemia was found in 43 cases, β-thalassemia in 68 cases and α-combined-β thalassemia in 4 cases.--SEA/αα accounted for 47%, -α4.2/αα accounted for 21%, and HbH disease accounted for 14%. Six genotypes were found in 68 cases of β-thalassemia and the mutation frequency of βE was the highest (32%), followed by CD41-42 (24%), CD17 (23%), IVS-II654 (10%), CD71-72 (10%), and -28 (1%). CONCLUSIONS: The frequency of gene mutations for thalassemia is high in children from Kunming, Yunnan Province. Premarital and prenatal screenings and genetic diagnosis for thalassemia should be carried out in this area.
WEN Bai-Ping,FAN Mao,DAI Hong-Jian et al. Biochemical screening and genetic diagnosis of thalassemia in children from Kunming[J]. 中国当代儿科杂志, 2011, 13(2): 104-106.
WEN Bai-Ping,FAN Mao,DAI Hong-Jian et al. Biochemical screening and genetic diagnosis of thalassemia in children from Kunming[J]. CJCP, 2011, 13(2): 104-106.
［3］Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of α-thalassemia［J］. Blood, 2000, 95（1）:360-362.
［4］Li Y, Di Naro E, Vitucci A, Zimmermann B, Holzgreve W, Hahn S. Detection of paternally inherited fetal point mutations for beta-thalassemia using size-fractionated cell-free DNA in maternal plasma［J］. JAMA, 2005, 293(7): 843-849.
