To analyze the molecular characterization and prevalence of beta-thalassemia in Fujian Province.

RDBwas applied to identify 17 point mutations of beta gene and 3 point mutations of alpha gene. Gap-PCRwas applied to identify 3 deletions of alpha gene, MLPA and DNA sequecing were applied to identify the rare mutational genotype of beta-thalassemia.

3515 cases (15.45%)of β-thalassemia were confirmed. 15 genotypes were found in the studied subjects. β^{IVS-2-654(C→T)}/β^N , β^{CD41-42(-TCTT)}/β^N, β^CD17(A→T)/β^N, β^-28(A→G)/β^N, β^{CD27-28(+ C)}/β^N, and β^CD26(G→A)/β^N were the mostcommon genotypes in Fujian Province, accounting for 41.76%, 30.50%, 12.46%, 5.46%, 2.93% and 1.82% respectively , It was found that the total frequency of them was 94.93% in our study.13 cases of deletional β-thalassemia were detected, including 6 cases of Southeast Asia subtype (SEA-HPFH), 6 cases of Chinese subtype ^Gγ(^Aγδβ)⁰ and 1 case of 1.35kb deletion(NG-000007.3: g.69997-71353 del 1357) in one subject. 13 cases of rare β-thalassemia were detected, including Hb J-Bankok in 8 subjects and Hb New York in 5 subjects were diagnosed.

As a high-risk area forβ-thalassaemia, the detection of deletional β-thalassemia and rare β-thalassaemia subtypes should be screened in addition to the common β-thalassemia genes, so as to demonstrate the results of β-thalassemia gene detection in this region. Those screening results are useful for genetic counseling and can effectively reduce the birth of children with moderate to severe β-thalassaemia. (Chin J Lab Med, 2018, 41: 928-933)

beta-Thalassemia; Genetic testing; Genotype; Gene frequency