title: The epidemiologic transition of thalassemia and associated hemoglobinopathies in southern Taiwan.
abstract: Since 1993, following the National Thalassemia Major Prevention Program and an increase in immigration and interracial marriages, especially in southern Taiwan, the distribution of hemoglobinopathies may have changed. This study investigates the epidemiologic transition of hemoglobinopathies. We analyzed 1870 specimens collected between 2003 and 2012 in southern Taiwan, used gap-polymerase chain reaction and PCR-restriction fragment length polymorphism-based methods, and confirmed genotypes of hemoglobinopathies by DNA sequencing. We found a 91% reduction in the incidence of thalassemia major compared with samples from between 1986 and 1995. The most common genotypes of α-thalassemia and α Hb variants were the SEA type (69.4%) and Hb Quong Sze (1.54%). The most common genotypes of β-thalassemia and β Hb variants were IVS-II-654 (46.2%) and Hb E (2.2%), respectively. Compared with studies performed in different areas of and time intervals in Taiwan, a higher prevalence of -α3.7, Hb Quong Sze, and Hb E and a lower prevalence of the SEA type were found in this study. However, the SEA type remained the most common genotype observed. In addition, an increasing number of cases with an -α3.7type carrier, Hb Quong Sze carrier, and Gγ(Aγδβ)° were identified following a peak of interracial marriages between 2003 and 2005, reflecting a regional difference and the impact of interracial marriage. In conclusion, global migration and international marriage have changed the distribution of hemoglobinopathies in Taiwan. A more comprehensive prenatal screening for new immigrants with a longer follow-up is warranted.
authors.affiliation: Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.|Division of Hematology-Oncology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Hui-Ching
authors.initials: HC
authors.lastname: Wang
authors.affiliation: Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.|Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Li-Ling
authors.initials: LL
authors.lastname: Hsieh
authors.affiliation: Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.|Division of Hematology-Oncology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.|Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.|Department of Medical Research, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
authors.forename: Yi-Chang
authors.initials: YC
authors.lastname: Liu
authors.affiliation: Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.|Division of Hematology-Oncology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan.|Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.|Department of Medical Research, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.
authors.forename: Hui-Hua
authors.initials: HH
authors.lastname: Hsiao
authors.affiliation: Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan.|Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan.
authors.forename: Shu-Kai
authors.initials: SK
authors.lastname: Lin
authors.affiliation: Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan. d740094@cc.kmu.edu.tw.|Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan. d740094@cc.kmu.edu.tw.|Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan. d740094@cc.kmu.edu.tw.
authors.forename: Wen-Chan
authors.initials: WC
authors.lastname: Tsai
authors.affiliation: Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan. d730093@cc.kmu.edu.tw.|Division of Hematology-Oncology, Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan. d730093@cc.kmu.edu.tw.|Department of Laboratory Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan. d730093@cc.kmu.edu.tw.|Faculty of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan. d730093@cc.kmu.edu.tw.|Department of Medical Research, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan. d730093@cc.kmu.edu.tw.
authors.forename: Ta-Chih
authors.initials: TC
authors.lastname: Liu
mesh_terms: D005260:Female; D005838:Genotype; D006453:Hemoglobinopathies / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000639:trends; D013624:Taiwan / Q000453:epidemiology; D013789:Thalassemia / Q000175:diagnosis* / Q000453:epidemiology* / Q000235:genetics; D017085:alpha-Thalassemia / Q000235:genetics; D017086:beta-Thalassemia / Q000235:genetics
keywords: Epidemiology; Southern Taiwan; Thalassemia