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.
Highlights
Thalassemia is a hereditary blood disorder caused by human globin gene synthesis disorders, of which α- and β-thalassemia are the most common genotypes (Weatherall, 2001)
We performed thalassemia gene detection on all of the subjects who met the following inclusion criteria: (1) routine hematology examination showed abnormal mean corpuscular volume (MCV)
Positive hematological screening was defined as an MCV of less than 82 fl and/or an MCH concentration of less than 27 pg and/or hemoglobin A2 (HbA2) levels greater than 3.4% or less than 2.6% or an Hb F value of more than 2.0%
Summary
Thalassemia is a hereditary blood disorder caused by human globin gene synthesis disorders, of which α- and β-thalassemia are the most common genotypes (Weatherall, 2001). It most commonly occurs in Mediterranean countries, the Middle East, the Indian subcontinent, Southeast Asia, and China (Modell and Darlison, 2008; Weatherall, 2008). There is very little knowledge on the genotypes of thalassemia, and there is a lack of information on the hemoglobinopathy mutation spectrum in the Quanzhou region. There are limited reports available on investigations into the molecular spectrum of thalassemia and hemoglobinopathy in Fujian province, Southeast China. We aim to reveal the spectrum of the thalassemia mutation and hemoglobinopathy in Quanzhou prefecture, Fujian province
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