ABSTRACT
<p><b>OBJECTIVE</b>To explore the types of gene mutation in the patients with α and β Thalassemia in Northern area of Fujian Province in China, so as to provide the reference for gene diagnosis and genetic counseling about thalassemia.</p><p><b>METHODS</b>The types and frequencies of gene mutation in 759 patients with suspected thalassemia were analyzed by Gap-PCR, reverse dot blot (RDB) and sequencing.</p><p><b>RESULTS</b>A total of 470 patients with thalassemia were detected between 2013 and 2014. Among them, 225 cases suffered from α-thalassemia, including 186 cases of --(SEA)/αα (82.67%), 21 cases of α(3.7) deletion type αα/-α(3.7) (9.34%). 9 cases of hemoglobin H disease (7 cases of -α(3.7)/--(SEA), 2 cases of -α(4.2)/--(SEA)). 1 case of (-α(3.7)/) homozygote, 1 case of -α(3.7)/-α(4.2) double heterozygote; 231 cases were diagnosed as β-thalassemia, first 3 mutations included 95 cases of IVS-II-654 heterozygote, 67 cases of CD41-42 heterozygote, 31 cases of CD17 heterozygote, and totally accounting to 83.55%; 6 cases suffered from βE, 6 cases of -28 (A→G), 5 cases of CD43 (GAG→TAG), 2 cases of CD14-15 (+G), 2 cases of Int (ATG→AGG), 1 case of IVS-I-1 (G→T), 1 case of CD71-72 (+A); 14 cases suffered from α composite β-thalassemia.</p><p><b>CONCLUSION</b>The preliminary analysis shows that the gene mutation types of thalassemia in the Northern area of Fujian province in China, possesses the obviously heterogeneous. This study results will be valuable for genetic counseling and prenatal diagnosis.</p>