The prevalence and outcomes of α- and β-thalassemia among pregnant women in Hubei Province, Central China

Abstract

There is no information concerning the prevalence of thalassemia among pregnant women in Hubei Province currently. This study is aimed to explore the prevalence of aand b-thalassemia genotypes among pregnant women in Hubei Province, and to explore the clinically applicable screening approach, as well as to investigate the pregnancy outcomes of aand b-thalassemia carriers.Pregnant participants were recruited from 4 hospitals for the screening of aand b-thalassemia mutations in Hubei Province. Polymerase Chain Reaction and flow cytometry methods were used to examine aand b-thalassemia mutations. The hematological parameters and pregnancy outcomes of aand b-thalassemia carriers were obtained from the hospital information system. The chisquare tests were used to evaluate the difference in hematological parameters between pregnant thalassemia carriers and the control group.Among 11,875 participants, 414 (3.49%) were confirmed with a-thalassemia carriers, 228 (1.92%) were confirmed with b-thalassemia carriers, and 3 (0.03%) were confirmed with both aand b-thalassemia carriers. The frequency of -a 3.7 accounted for 2.05% and it was the most frequent genotype of a-thalassemia; the proportion of IVS-II-654 was 0.85% and it was the most frequent genotype of b-thalassemia in Hubei Province. Furthermore, the proportion of patients with low mean corpuscular volume (MCV) or mean cell hemoglobin (MCH) values was accounted for 36.64% and 93.97% among a-thalassemia and b-thalassemia carriers, respectively. And participants with normal MCV and MCH values were accounted for 95.07% among non-thalassemia participants. High prevalence of pregnancy-induced diabetes (16.97%), preterm birth (9.96%), pregnancy-induced hypertension (8.12%), and low birth weight (5.90%) were observed among pregnant thalassemia carriers.MCV and MCH values were suggested to apply on the preliminary screening of pregnant b-thalassemia; however, it's unpractical on that of a-thalassemia. Furthermore, thalassemia carriers might have a high risk of negative pregnancy outcomes. These findings could be useful for the preliminary screening of thalassemia and perinatal care for the pregnant thalassemia carriers.Abbreviations: MCH = mean cell hemoglobin, MCV = mean corpuscular volume, TI = thalassemia intermedia.

Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China

“…The results showed a high prevalence of 1.872% for hemoglobinopathy of ß-globin in China, with the respective carrier rate at 1.739% for ß-thal, 0.092% for the composite αβ-thal, and 0.041% for the abnormal Hb variant. Based on previous studies, prevalence rate of ßhemoglobinopathies among child-bearing population in typical geographic areas such as Guangxi (Xiong et al, 2010), Guangdong (Xu et al, 2004), Hubei, (Cheng et al, 2022), and…”

“…The results showed a high prevalence of 1.872% for hemoglobinopathy of ß -globin in China, with the respective carrier rate at 1.739% for ß -thal, 0.092% for the composite αβ-thal, and 0.041% for the abnormal Hb variant. Based on previous studies, prevalence rate of ß -hemoglobinopathies among child-bearing population in typical geographic areas such as Guangxi ( Xiong et al, 2010 ), Guangdong ( Xu et al, 2004 ), Hubei, ( Cheng et al, 2022 ), and Hunan Province ( He et al, 2017 ) were listed in Table.7 . Frequencies of ß -hemoglobinopathies in Jiangxi Province showed difference from other reports in China probably mainly due to geographic and ethnic background.…”

“…We also observed some differences in the ß -thal mutation spectrum in Jiangxi Province compared to those of other provinces in China. For example, in contrast to Guangxi, Guangdong, and Hainan ( Xu et al, 2004 ; Xiong et al, 2010 ; Wang et al, 2022 ), CD41/42 (-TCTT) is not the most prevalent mutation in Jiangxi Province, while compared with its surrounding provinces, such as Hunan and Hubei ( Liu et al, 2019 ; Cheng et al, 2022 ), Jiangxi Province shares a more similar mutation spectrum, with IVS-II-654 (C>T), CD41/42 (-TCTT), and CD17 (A>T) as the three most frequent genotypes in these areas, accounting for almost 80% of all genotypes. Likewise, the spectrum of structural Hb variants in HBB in Jiangxi Province is similar to those reported in previous studies, with the most three common variants as Hb New York, Hb J-Bangkok, and Hb G-Taipei, while Hb YaiZu, Hb Deer Lodge, and Hb E-Saskatoon had been seldom reported previously in China.…”

Prevalence and molecular characterization of alpha and beta-Thalassemia mutations among Hakka people in southern China

“…Carriers of thalassemia mutations account for about 5% of the global population, particularly in tropical and subtropical areas, for instance, North Africa, the Mediterranean region, India, Southeast Asia, Pakistan, and the Middle East (Merkeley and Bolster, 2020). In China, thalassemia is mainly found in the south of the Yangtze River, especially in the Guangxi, Hainan, and Guangdong regions (Yang et al, 2019;Cheng et al, 2022).…”