Combined Gap-Polymerase Chain Reaction and Targeted Next-Generation Sequencing Improve α- and β-Thalassemia Carrier Screening in Pregnant Women in Vietnam

References

• Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008;86(6):480–487.
   PubMed Web of Science ®Google Scholar
• Weatherall DJ. Thalassemia as a global health problem: recent progress toward its control in the developing countries. Ann N Y Acad Sci. 2010;1202:17–23.
   PubMed Web of Science ®Google Scholar
• Galanello R, Cao A. Alpha-thalassemia. Genet Med. 2011;13(2):83–88.
   PubMed Web of Science ®Google Scholar
• Kalle Kwaifa I, Lai MI, Md Noor S. Non-deletional alpha thalassaemia: a review. Orphanet J Rare Dis. 2020;15(1):166.
   PubMed Web of Science ®Google Scholar
• Thein SL. The molecular basis of β-thalassemia. Cold Spring Harb Perspect Med. 2013;3(5):a011700.
   PubMed Web of Science ®Google Scholar
• De Sanctis V, Kattamis C, Canatan D, et al. β-thalassemia distribution in the Old World: an ancient disease seen from a historical standpoint. Mediterr J Hematol Infect Dis. 2017;9(1):e2017018.
   PubMed Web of Science ®Google Scholar
• Viprakasit V, Ekwattanakit S. Clinical classification, screening and diagnosis for thalassemia. Hematol Oncol Clin North Am. 2018;32(2):193–211.
   PubMed Web of Science ®Google Scholar
• Williams TN, Weatherall DJ. World distribution, population genetics, and health burden of the hemoglobinopathies. Cold Spring Harb Perspect Med. 2012;2(9):a011692.
   PubMed Web of Science ®Google Scholar
• Weatherall DJ, Clegg JB. Inherited haemoglobin disorders: an increasing global health problem. Bull World Health Organ. 2001;79(8):704–712.
   PubMed Web of Science ®Google Scholar
• Vo LTT, Nguyen TT, Le HX, Le HTT. Analysis of common β-thalassemia mutations in North Vietnam. Hemoglobin 2018;42(1):16–22.
   PubMed Web of Science ®Google Scholar
• Bui Thi Kim L, Phu Chi D, Hoang Thanh C. Spectrum of common α-globin deletion mutations in the southern region of Vietnam. Hemoglobin 2016;40(3):206–207.
   PubMed Web of Science ®Google Scholar
• Saovaros Svasti ML, Hieu TM, Munkongdee T, et al. Molecular analysis of β-thalassemia in South Vietnam. Am J Hematol. 2002;71(2):85–88.
   PubMed Web of Science ®Google Scholar
• Doro MG, Casu G, Frogheri L, et al. Molecular characterization of β-thalassemia mutations in Central Vietnam. Hemoglobin 2017;41(2):96–99.
   PubMed Web of Science ®Google Scholar
• Nguyen VH, Sanchaisuriya K, Nguyen D, et al. Thalassemia and hemoglobinopathies in Thua Thien Hue province, Central Vietnam. Hemoglobin 2013;37(4):333–342.
   PubMed Web of Science ®Google Scholar
• Nguyen VH, Sanchaisuriya K, Wongprachum K, et al. Hemoglobin constant spring is markedly high in women of an ethnic minority group in Vietnam: a community-based survey and hematologic features. Blood Cells Mol Dis. 2014;52(4):161–165.
   PubMed Web of Science ®Google Scholar
• Anh TM, Sanchaisuriya K, Kieu GN, et al. Thalassemia and hemoglobinopathies in an ethnic minority group in Northern Vietnam. Hemoglobin 2019;43(4-5):249–253.
   PubMed Web of Science ®Google Scholar
• O’Riordan S, Hien TT, Miles K, et al. Large scale screening for haemoglobin disorders in southern Vietnam: implications for avoidance and management. Br J Haematol. 2010;150(3):359–364.
   PubMed Web of Science ®Google Scholar
• Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics 2010;26(5):589–595.
   PubMed Web of Science ®Google Scholar
• Danecek P, Bonfield JK, Liddle J, et al. Twelve years of SAMtools and BCFtools. Gigascience 2021;10(2):giab008.
   PubMed Web of Science ®Google Scholar
• Chong SS, Boehm CD, Higgs DR, et al. Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood 2000;95(1):360–362.
   PubMed Web of Science ®Google Scholar
• R Core Team. R: A language and environment for statistical computing. R Found Stat Comput. 2019; [cited 2021 Sep 1]. Available from: https://www.R-project.org/.
   Google Scholar
• General Statistics Office of Vietnam. Completed results of the 2019 Vietnam population and housing census. 2019; [cited 2021 Sep 1]. Available from: https://www.gso.gov.vn.
   Google Scholar
• Harano T, Harano K, Ueda S. Hb Owari [α121 (H 4) VAL→MET]: a new hemoglobin variant with a neutral-to-neutral amino acid substitution detected by isoelectric focusing. Hemoglobin 1986;10(2):127–134.
   PubMed Web of Science ®Google Scholar
• Wajcman H, Blouquit Y, Riou J, et al. A new hemoglobin variant found during investigations of diabetes mellitus: Hb Pavie [alpha 135 (H18) Val—Glu. Clin Chim Acta. 1990;188(1):39–47.
   PubMed Web of Science ®Google Scholar
• Winichagoon P, Fucharoen S, Wilairat P, et al. Identification of five rare mutations including a novel frameshift mutation causing beta zero-thalassemia in Thai patients with beta zero-thalassemia/hemoglobin E disease. Biochim Biophys Acta. 1992;1139(4):280–286.
   PubMed Web of Science ®Google Scholar
• Fucharoen G, Fucharoen S, Jetsrisuparb A, et al. Molecular basis of HbE-β-thalassemia and the origin of HbE in northeast Thailand: identification of one novel mutation using amplified DNA from buffy coat specimens. Biochem Biophys Res Commun. 1990;170(2):698–704.
   PubMed Web of Science ®Google Scholar
• Atweh GF, Brickner HE, Zhu XX, et al. New amber mutation in a beta-thalassemic gene with nonmeasurable levels of mutant messenger RNA in vivo. J Clin Invest. 1988;82(2):557–561.
   PubMed Web of Science ®Google Scholar
• Cai S, Chehab FF. New frameshift mutation, insertion of A, at codon 95 of the beta-globin gene causes beta-thalassemia in two Vietnamese families. Hum Mutat. 1996;8(3):293–294.
   PubMed Web of Science ®Google Scholar
• Filon D, Oppenheim A, Rachmilewitz EA, et al. Molecular analysis of β-thalassemia in Vietnam. Hemoglobin 2000;24(2):99–104.
   PubMed Web of Science ®Google Scholar
• Nguyen NT, Sanchaisuriya K, Sanchaisuriya P, et al. Thalassemia and hemoglobinopathies in an ethnic minority group in Central Vietnam: implications to health burden and relationship between two ethnic minority groups. J Community Genet. 2017;8(3):221–228.
   PubMed Web of Science ®Google Scholar
• Hockham C, Ekwattanakit S, Bhatt S, et al. Estimating the burden of α-thalassaemia in Thailand using a comprehensive prevalence database for Southeast Asia. Elife 2019;8:e40580.
   PubMed Web of Science ®Google Scholar
• Zhang H, Li C, Li J, et al. Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region. J Clin Lab Anal. 2019;33(4):e22845.
   PubMed Web of Science ®Google Scholar
• Yang Z, Cui Q, Zhou W, et al. Comparison of gene mutation spectrum of thalassemia in different regions of China and Southeast Asia. Mol Genet Genomic Med. 2019;7(6):e680.
   PubMed Web of Science ®Google Scholar
• Zhuang J, Jiang Y, Wang Y, et al. Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China. J Clin Pathol. 2020;73(5):278–282.
   PubMed Web of Science ®Google Scholar
• Wongprachum K, Sanchaisuriya K, Dethvongphanh M, et al. Molecular heterogeneity of thalassemia among pregnant Laotian women. Acta Haematol. 2016;135(2):65–69.
   PubMed Web of Science ®Google Scholar
• Xiong F, Sun M, Zhang X, et al. Molecular epidemiological survey of haemoglobinopathies in the Guangxi Zhuang autonomous region of southern China. Clin Genet. 2010;78(2):139–148.
   PubMed Web of Science ®Google Scholar
• Jiang F, Ju A-P, Li J, et al. Hb Westmead (HBA2: c.369C>G): hematological characteristics in heterozygotes with and without α0-thalassemia. Hemoglobin 2020;44(3):153–155.
   PubMed Web of Science ®Google Scholar
• Wee Y-C, Tan K-L, Chua K-H, et al. Molecular Characterization of Haemoglobin Constant Spring and Haemoglobin Quong Sze with a combine-amplification refractory mutation system. Malaysian J Med Sci. 2009;16(3):21–28.
   Google Scholar
• Yang Y, Lou J-W, Liu Y-H, et al. Screening and diagnosis of Hb Quong Sze [HBA2: c.377T>C (or HBA1)] in a prenatal control program for thalassemia. Hemoglobin 2014;38(3):158–160.
   PubMed Web of Science ®Google Scholar
• Weatherall DJ. The evolving spectrum of the epidemiology of thalassemia. Hematol Oncol Clin North Am. 2018;32(2):165–175.
   PubMed Web of Science ®Google Scholar
• Fucharoen S, Weatherall DJ. The hemoglobin E thalassemias. Cold Spring Harb Perspect Med. 2012;2(8):e011734.
   PubMed Web of Science ®Google Scholar
• Rujito L, Sasongko TH. Genetic background of β-thalassemia modifier: recent update. J Biomed Transl Res. 2018;4(1):12–21.
   Google Scholar
• Guvenc B, Canataroglu A, Unsal C, et al. β-Globin chain abnormalities with coexisting α-thalassemia mutations. Arch Med Sci. 2012;8(4):644–649.
   PubMed Web of Science ®Google Scholar
• Weidlich D, Kefalas P, Guest JF. Healthcare costs and outcomes of managing β-thalassemia major over 50 years in the United Kingdom. Transfusion 2016;56(5):1038–1045.
   PubMed Web of Science ®Google Scholar
• Karnon J, Zeuner D, Brown J, et al. Lifetime treatment costs of beta-thalassaemia major. Clin Lab Haematol. 1999;21(6):377–385.
   PubMedGoogle Scholar
• Scalone L, Mantovani LG, Krol M, et al. Costs, quality of life, treatment satisfaction and compliance in patients with beta-thalassemia major undergoing iron chelation therapy: the ITHACA study. Curr Med Res Opin. 2008;24(7):1905–1917.
   PubMed Web of Science ®Google Scholar
• Sattari M, Sheykhi D, Nikanfar A, et al. The financial and social impact of thalassemia and its treatment in Iran. Pharm Sci. 2012;18(3):171–176.
   Google Scholar
• Koren A, Profeta L, Zalman L, et al. Prevention of β-thalassemia in Northern Israel – A cost-benefit analysis. Mediterr J Hematol Infect Dis. 2014;6(1):e2014012.
   PubMedGoogle Scholar
• Riewpaiboon A, Nuchprayoon I, Torcharus K, et al. Economic burden of beta-thalassemia/Hb E and beta-thalassemia major in Thai children. BMC Res Notes. 2010;3:29.
   PubMedGoogle Scholar
• Ho W-L, Lin K-H, Wang J-D, et al. Financial burden of national health insurance for treating patients with transfusion-dependent thalassemia in Taiwan. Bone Marrow Transplant. 2006;37(6):569–574.
   PubMed Web of Science ®Google Scholar
• Mallik S, Chatterjee C, Mandal PK, et al. Expenditure to treat thalassaemia: an experience at a tertiary care hospital in India. Iran J Public Health. 2010;39(1):78–84.
   PubMed Web of Science ®Google Scholar
• Payne KA, Desrosiers M-P, Caro JJ, et al. Clinical and economic burden of infused iron chelation therapy in the United States. Transfusion 2007;47(10):1820–1829.
   PubMed Web of Science ®Google Scholar
• Shafie AA, Wong JHY, Ibrahim HM, et al. Economic burden in the management of transfusion-dependent thalassaemia patients in Malaysia from a societal perspective. Orphanet J Rare Dis. 2021;16(1):157.
   PubMed Web of Science ®Google Scholar