Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study

Abstract

Background: There are limited reports available on investigations into the molecular spectrum of thalassemia and hemoglobinopathy in Fujian province, Southeast China. Here, we aim to reveal the spectrum of the thalassemia mutation and hemoglobinopathy in Quanzhou prefecture, Fujian province.Methods: We collected data from a total of 17,407 subjects with the thalassemia trait in Quanzhou prefecture. Gap-PCR, DNA reverse dot blot hybridization, and DNA sequencing were utilized for common and rare thalassemia gene testing.Results: In our study, we identified 7,085 subjects who were carrying thalassemia mutations, representing a detection rate of 40.70% (7,085/17,407). Among them, 13 different α-thalassemia gene mutations were detected, with the most common mutation being –SEA (69.01%), followed by –α3.7 (21.34%) and –α4.2 (3.96%). We also discovered 26 β-thalassemia gene mutations, with the mutations of IVS-II-654 (C > T) (36.28%) and CD41/42(–TCTT) (29.16%) being the most prevalent. Besides, a variety of rare thalassemia variants were identified. Among them, the –FIL, βMalay, βIVS–I–130, and βIVS–II–672 mutations were identified in Fujian province for the first time. Additionally, we detected 78 cases of hemoglobinopathies, of which Hb Owari was the first reported case in Fujian province and Hb Miyashiro was the first case identified in the Chinese population.Conclusion: Our study indicates that there is a diverse range of thalassemia mutations, and it also reveals the mutation spectrum of rare thalassemia and hemoglobinopathies in Quanzhou, Fujian province. It provides valuable data for the prevention and control of thalassemia in Southeast China.

Prevalence and Genetic Analysis of Thalassemia and Hemoglobinopathy in Different Ethnic Groups and Regions in Hainan Island, Southeast China

“…The high-frequent genotypes of α-thalassemia in the Han were αα/-- SEA (25.55%), -α 3.7 /αα (22.17%), -α 4.2 /αα (21.59%), α WS α/αα (8.93%), -α 3.7 /-α 4.2 (4.17%), and α QS α/αα (3.96%), and those of Li were -α 4.2 /αα (17.24%), -α 3.7 /αα (17.16%), -α 3.7 /-α 4.2 (15.09%), α WS α/αα (9.69%), α WS α/-α 3.7 (8.06%), -α 3.7 /-α 3.7 (7.45%), αWSα/-α4.2 (7.13%), and -α 4.2 /-α 4.2 (7.11%). The αα/-- SEA was the highest genotype of α-thalassemia in the Han nationality, which was similar to the reports from other provinces in China ( He et al, 2018 ; Peng et al, 2021 ; Zhuang et al, 2021 ). However, αα/-- SEA only accounts for 1.87% of α-thalassemia in the Li nationality, far lower than other high-frequent genotypes, which was the biggest difference between the Li nationality and the Han nationality.…”

“…The results showed that the five most common mutations of α-thalassemia were -α 3.7 , -α 4.2 , -- SEA , α WS α, and α QS α, which account for 99.15% of all α-thalassemia carriers. These results suggested that the molecular profile of α-thalassemia in Hainan was different from that which is previously depicted in southern China, such as Guangxi, Guangdong, and Fujian, where-- SEA and α CS α always had higher allele frequencies, and-- SEA usually has the highest allele frequency ( He et al, 2018 ; Peng et al, 2021 ; Zhuang et al, 2021 ).…”

“…Other common mutations of β-gene were β -28(A>G) (10.84%), β IVS-Ⅱ-654(C>T) (5.25%), β CD71/72 (+A) (3.96%), β CD17(A>T) (3.62%), and β CD26 (GAG>AAG) (1.71%). The ranking of the high-frequent genotypes was also different from other regions of China ( Peng et al, 2021 ; He et al, 2017 ; Zhuang et al, 2021 ). In addition, this study also identified some uncommon thalassemia genotypes in the Chinese population.…”

Genetic predictions of life expectancy in southern Thai patients with β0‑thalassemia/Hb E

“…According to different genetic backgrounds and migration, the mutational spectrum of β-thalassemia and SNP frequency in southern Thai differed in other parts of Thailand. This phenomenon has also been observed in various countries such as India ( 42-44 ), Malaysia, China ( 45 , 46 ), and other countries ( 47 ). Therefore, the predictive performance of the β-thalassemia mutations and SNPs would differ in each region in the same country.…”

“…Although this study recruited patients from several provinces of southern Thailand, a similar pattern of the most common β-thalassemia mutations was observed. The origin of patients may explain the difference in distribution; for example, codons 41/42 (-TTCT) are very common in individuals of Chinese origin ( 45 , 46 ), whereas IVS I-5 (G>C) is very common in the Malay ( 49 ) and Asian Indian ( 50 ) populations. Interestingly, the present study demonstrated comparable frequencies of codons 41/42; -TTCT (23.9%) and IVS I-5; G>C (23.4%) because of the higher sample size of Thai-Muslim patients.…”