β Thalassemia Mutation Flow in Indonesia: A Migration Perspective
Abstract
:1. Introduction
2. Materials and Methods
3. Results and Discussions
3.1. β Thalassemia Alleles
3.2. Migration Perspective
3.3. β Thalassemia Alleles and Prevention and Control Program
4. Limitation of the Study
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
- Sanchez-Villalobos, M.; Blanquer, M.; Moraleda, J.M.; Salido, E.J.; Perez-Oliva, A.B. New Insights Into Pathophysiology of β-Thalassemia. Front. Med. 2022, 9, 1–10. [Google Scholar] [CrossRef] [PubMed]
- O’Donnell, A.; Premawardhena, A.; Arambepola, M.; Samaranayake, R.; Allen, S.J.; Peto, T.E.A.; Fisher, C.A.; Cook, J.; Corran, P.H.; Olivieri, N.F.; et al. Interaction of malaria with a common form of severe thalassemia in an Asian population. Proc. Natl. Acad. Sci. USA 2009, 106, 18716–18721. [Google Scholar] [CrossRef] [PubMed]
- Lee, J.-S.; Rhee, T.-M.; Jeon, K.; Cho, Y.; Lee, S.-W.; Han, K.-D.; Seong, M.-W.; Park, S.-S.; Lee, Y.K. Epidemiologic Trends of Thalassemia, 2006–2018: A Nationwide Population-Based Study. J. Clin. Med. 2022, 11. ahead of print. [Google Scholar] [CrossRef] [PubMed]
- Ebrahimi, M.; Mohammadi-Asl, J.; Rahim, F. The worldwide molecular spectrum and distribution of thalassaemia: A systematic review. Ann. Hum. Biol. 2021, 48, 307–312. [Google Scholar] [CrossRef] [PubMed]
- Lipson, M.; Loh, P.-R.; Patterson, N.; Moorjani, P.; Ko, Y.-C.; Stoneking, M.; Berger, B.; Reich, D. Reconstructing Austronesian population history in Island Southeast Asia. Nat. Commun. 2014, 5, 4689. [Google Scholar] [CrossRef] [PubMed]
- Greenhill, S.J.; Drummond, A.J.; Gray, R.D. How Accurate and Robust Are the Phylogenetic Estimates of Austronesian Language Relationships? PLoS ONE 2010, 5, e9573. [Google Scholar] [CrossRef]
- Oliveira, S.; Nägele, K.; Carlhoff, S.; Pugach, I.; Koesbardiati, T.; Hübner, A.; Meyer, M.; Oktaviana, A.A.; Takenaka, M.; Katagiri, C.; et al. Ancient genomes from the last three millennia support multiple human dispersals into Wallacea. Nat. Ecol. Evol. 2022, 6, 1024–1034. [Google Scholar] [CrossRef]
- Lie-Injo, L.E.; Cai, S.P.; Wahidijat, I.; Moeslichan, S.; Lim, M.L.; Evangelista, L.; Doherty, M.; Kan, Y.W. Beta-thalassemia mutations in Indonesia and their linkage to beta haplotypes. Am. J. Hum. Genet. 1989, 45, 971–975. [Google Scholar]
- Setianingsih, I.I.; Williamson, R.; Marzuk, S.; Harahap, A.; Tamam, M.; Forrest, S. Molecular Basis of beta-Thalassemia in Indonesia: Application to Prenatal Diagnosis. Mol. Diagn. 1998, 3, 11–19. [Google Scholar] [CrossRef]
- Tamam, M.; Hadisaputro, S.; Sutaryo; Setianingsih, I.; Astuti, R.; Soemantri, A. Hubungan antara Tipe Mutasi Gen Globin dan Manifestasi Klinis Penderita Talasemia. JKB 2010, 26, 48–52. [Google Scholar] [CrossRef]
- Hernanda, P.Y.; Tursilowati, L.; Arkesteijn, S.G.; Ugrasena, I.D.; Larasati, M.C.; Soeatmadji, S.M.; Giordano, P.C.; Harteveld, C.L. Towards a prevention program for beta-thalassemia. The molecular spectrum in East Java, Indonesia. Hemoglobin 2012, 36, 1–6. [Google Scholar] [CrossRef]
- Rujito, L.; Basalamah, M.; Mulatsih, S.; Sofro, A.S.M. Molecular Scanning of β-Thalassemia in the Southern Region of Central Java, Indonesia; a Step Towards a Local Prevention Program. Hemoglobin 2015, 39, 330–333. [Google Scholar] [CrossRef] [PubMed]
- Fucharoen, S.; Winichagoon, P. Haemoglobinopathies in southeast Asia. Indian. J. Med. Res. 2011, 134, 498–506. [Google Scholar] [PubMed]
- Yin, A.; Li, B.; Luo, M.; Xu, L.; Wu, L.; Zhang, L.; Ma, Y.; Chen, T.; Gao, S.; Liang, J.; et al. The Prevalence and Molecular Spectrum of [alpha]- and [beta]-Globin Gene Mutations in 14,332 Families of Guangdong Province, China. PLoS ONE 2014, 9, e89855. [Google Scholar] [CrossRef]
- Srivorakun, H.; Singha, K.; Fucharoen, G.; Sanchaisuriya, K.; Fucharoen, S. A Large Cohort of Hemoglobin Variants in Thailand: Molecular Epidemiological Study and Diagnostic Consideration. PLoS ONE 2014, 9, e108365. [Google Scholar] [CrossRef]
- Phanmany, S.; Chanprasert, S.; Munkongdee, T.; Svasti, S.; Leecharoenkiat, K. Molecular prevalence of thalassemia and hemoglobinopathies among the Lao Loum Group in the Lao People’s Democratic Republic. Int. J. Lab. Hematol. 2019, 41, 650–656. [Google Scholar] [CrossRef]
- Susanto, Z.A.; Siswandari, W.; Rujito, L. Cd60 (GTG > GAG)/Hb Cagliari mutation was found in scanning of β-thalassemia alleles from patients of East Kalimantan, Indonesia. Mol. Genet. Metab. Rep. 2020. ahead of print. [Google Scholar] [CrossRef]
- Gonzales-Redondo, J.M.; Stoming, T.A.; Kutlar, F.; Kutlar, A.; McKie, V.C.; McKie, K.M.; Huisman, T.H.J. Severe HbS-beta thalassemia with a T-C substitution in the donor splice site of the first intron of the beta-globin gene. Br. J. Haematol. 1989, 71, 113–117. [Google Scholar] [CrossRef]
- Ohba, Y.; Hattori, Y.; Harano, T.; Harano, K.; Fukumaki, Y.; Ldeguchi, H. β-Thalassemia Mutations in Japanese and Koreans. Hemoglobin 1997, 21, 191–200. [Google Scholar] [CrossRef]
- Patrinos, G.P.; Giardine, B.; Riemer, C.; Miller, W.; Chui, D.H.K.; Anagnou, N.P.; Wajcman, H.; Hardison, R.C. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004, 32, D537–D541. [Google Scholar] [CrossRef]
- Fucharoen, G.; Fuchareon, S.; Jetsrisuparb, A.; Fukumaki, Y. Eight-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta khon kaen) with an inclusion body beta-thalassemia trait. Blood 1991, 78, 537–539. [Google Scholar] [CrossRef] [PubMed]
- Hudjashov, G.; Karafet, T.M.; Lawson, D.J.; Downey, S.; Savina, O.; Sudoyo, H.; Lansing, J.S.; Hammer, M.F.; Cox, M.P. Complex Patterns of Admixture across the Indonesian Archipelago. Mol. Biol. Evol. 2017, 34, 2439–2452. [Google Scholar] [CrossRef] [PubMed]
- Teh, L.K.; George, E.; Lai, M.I.; Tan, J.A.M.A.; Wong, L.; Ismail, P. Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah. J. Hum. Genet. 2014, 59, 119–123. [Google Scholar] [CrossRef] [PubMed]
- Setianingsih, I.; Williamson, R.; Daud, D.; Harahap, A.; Marzuki, S.; Forrest, S. Phenotypic variability of Filipino beta(o)-thalassemia/HbE patients in Indonesia. Am. J. Hematol. 1999, 62, 7–12. [Google Scholar] [CrossRef]
- Weatherall, D.J.; Clegg, J.B. The Thalassaemia Syndromes, 4th ed.; Blackwell Science: Oxford, UK, 2008. [Google Scholar]
- Boonyawat, B.; Monsereenusorn, C.; Traivaree, C. Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: Results from a single center study. Appl. Clin. Genet. 2014, 7, 253–258. [Google Scholar] [CrossRef]
- Grow, K.; Vashist, I.; Abrol, P.; Sharma, S.; Yadav, R. Beta Thalassemia in India: Current Status and The Challenges Ahead. Int. J. Pharm. Pharm. Sci. 2014, 6, 28–33. [Google Scholar]
- Khattak, M.F.; Saleem, M. Prevalence of heterozygous beta-thalassemia in northern areas of Pakistan. J. Pak. Med. Assoc. 1992, 42, 32–34. [Google Scholar]
- Khattak, S.A.K.; Ahmed, S.; Anwar, J.; Ali, N.; Shaikh, K.H. Prevalence of various mutations in beta thalassaemia and its association with haematological parameters. J. Pak. Med. Assoc. 2012, 62, 40–43. [Google Scholar]
- Hassan, S.; Ahmad, R.; Zakaria, Z.; Zulkafli, Z.; Abdullah, W.Z. Detection of β-globin Gene Mutations Among β-thalassaemia Carriers and Patients in Malaysia: Application of Multiplex Amplification Refractory Mutation System–Polymerase Chain Reaction. Malays. J. Med. Sci. 2013, 20, 13–20. [Google Scholar]
- Giardine, B.; Borg, J.; Viennas, E.; Pavlidis, C.; Moradkhani, K.; Joly, P.; Bartsakoulia, M.; Riemer, C.; Miller, W.; Tzimas, G.; et al. Updates of the HbVar database of human hemoglobin variants and thalassemia mutations. Nucleic Acids Res. 2014, 42, D1063–D1069. [Google Scholar] [CrossRef]
- Tumonggor, M.K.; Karafet, T.M.; Hallmark, B.; Lansing, J.S.; Sudoyo, H.; Hammer, M.F.; Cox, M.P. The Indonesian archipelago: An ancient genetic highway linking Asia and the Pacific. J. Hum. Genet. 2013, 58, 165–173. [Google Scholar] [CrossRef] [PubMed]
- Surovell, T.; Waguespack, N.; Brantingham, P.J. Global archaeological evidence for proboscidean overkill. Proc. Natl. Acad. Sci. USA 2005, 102, 6231–6236. [Google Scholar] [CrossRef] [PubMed]
- Timmermann, A.; Yun, K.-S.; Raia, P.; Ruan, J.; Mondanaro, A.; Zeller, E.; Zollikofer, C.; Ponce de León, M.; Lemmon, D.; Willeit, M.; et al. Climate effects on archaic human habitats and species successions. Nature 2022, 604, 495–501. [Google Scholar] [CrossRef] [PubMed]
- Soares, P.; Trejaut, J.A.; Loo, J.-H.; Hill, C.; Mormina, M.; Lee, C.-L.; Chen, Y.-M.; Hudjashov, G.; Forster, P.; Macaulay, V.; et al. Climate Change and Postglacial Human Dispersals in Southeast Asia. Mol. Biol. Evol. 2008, 25, 1209–1218. [Google Scholar] [CrossRef] [PubMed]
- Reis, J.; Gerdau, K.; Buguet, A.; Spencer, P.S. Migration, Environment and Climate Change BT—Neurology in Migrants and Refugees; El Alaoui-Faris, M., Federico, A., Grisold, W., Eds.; Springer International Publishing: Cham, Switzerland, 2022; pp. 53–65. [Google Scholar]
- Karafet, T.M.; Hallmark, B.; Cox, M.P.; Sudoyo, H.; Downey, S.; Lansing, J.S.; Hammer, M.F. Major East–West Division Underlies Y Chromosome Stratification across Indonesia. Mol. Biol. Evol. 2010, 27, 1833–1844. [Google Scholar] [CrossRef] [PubMed]
- Jinam, T.A.; Phipps, M.E.; Aghakhanian, F.; Majumder, P.P.; Datar, F.; Stoneking, M.; Sawai, H.; Nishida, N.; Tokunaga, K.; Kawamura, S.; et al. Discerning the Origins of the Negritos, First Sundaland People: Deep Divergence and Archaic Admixture. Genome Biol. Evol. 2017, 9, 2013–2022. [Google Scholar] [CrossRef] [PubMed]
- Handayani, N.S.N.; Husna, N.; Rahmil, G.; Ghifari, R.A.; Widyawati, L.; Lesmana, I. Splice-site and Frameshift Mutations of β-Globin Gene Found in Thalassemia Carrier Screening in Yogyakarta Special Region, Indonesia. Indones. Biomed. J. 2021, 13, 55–60. [Google Scholar] [CrossRef]
- Ko, T.M.; Caviles, A.P.J.; Hwa, H.L.; Liu, C.W.; Hsu, P.M.; Chung, Y.P. Prevalence and molecular characterization of beta-thalassemia in Filipinos. Ann. Hematol. 1998, 77, 257–260. [Google Scholar] [CrossRef]
- Fucharoen, S.; Winichagoon, P. Hemoglobinopathies in Southeast Asia: Molecular biology and clinical medicine. Hemoglobin 1997, 21, 299–319. [Google Scholar] [CrossRef]
- Hernaningsih, Y.; Syafitri, Y.; Indrasari, Y.N.; Rahmawan, P.A.; Andarsini, M.R.; Lesmana, I.; Moses, E.J.; Abdul Rahim, N.A.; Yusoff, N.M. Analysis of Common Beta-Thalassemia (β-Thalassemia) Mutations in East Java, Indonesia. Front. Pediatr. 2022, 10, 925599. [Google Scholar] [CrossRef]
- Widyastiti, N.S.; Nainggolan, I.M.; Limijadi, E.K.S.; Hendrianingtyas, M.; Retnoningrum, D.; Ariosta; Nency, Y.M.; Dewi, M.; Sutamti; Ratnaningsih, T.; et al. Genetic heterogeneity of thalassemia major patients in Rembang Regency, Central Java, Indonesia. Bali Med. J. 2023, 12, 1633–1639. [Google Scholar] [CrossRef]
- Sofro, A.S. Molecular pathology of beta-thalassemia in Indonesia. Southeast. Asian J. Trop. Med. Public. Heal. 1995, 26 (Suppl. S1), 221–224. [Google Scholar]
- De Sanctis, V.; Kattamis, C.; Canatan, D.; Soliman, A.T.; Elsedfy, H.; Karimi, M.; Daar, S.; Wali, Y.; Yassin, M.; Soliman, N.; et al. β-Thalassemia Distribution in the Old World: An Ancient Disease Seen from a Historical Standpoint. Mediterr. J. Hematol. Infect. Dis. 2017, 9, e2017018. [Google Scholar] [CrossRef] [PubMed]
- Kattamis, A.; Forni, G.L.; Aydinok, Y.; Viprakasit, V. Changing patterns in the epidemiology of β-thalassemia. Eur. J. Haematol. 2020, 105, 692–703. [Google Scholar] [CrossRef]
- Tätte, K.; Metspalu, E.; Post, H.; Palencia-Madrid, L.; Luis, J.R.; Reidla, M.; Rea, A.; Tamm, E.; Moding, E.J.; Garcia-Bertrand, R.; et al. The Ami and Yami Aborigines of Taiwan and Their Genetic Relationship to East Asian and Pacific Populations. Eur. J. Hum. Genet. 2021, 1092–1102. [Google Scholar] [CrossRef]
- Sitanggang, N.D.H.; Zuhud, E.A.M.; Masy’ud, B.; Soekmadi, R. Ethnobotany of the Toba Batak Ethnic Community in Samosir District, North Sumatra, Indonesia. Biodiversitas J. Biol. Divers. 2022. ahead of print. [Google Scholar] [CrossRef]
Western Part Alleles (%) | Study | Eastern Part Alleles (%) | Study |
---|---|---|---|
IVS1-5 (35–54) | [9,12,39] | Fil β0-deletion (45–90) | [23,24,40] |
HbE (28–47) | [11,12,41,42] | IVS1-5 (35–54) | [9,10,11] |
Codon 35 (-C) (5–17) | [12,43] | HbE (28–47) | [11,8] |
Codon 15 (TGG > TAG) (3–6) | [8,12] | Codon 41/42 (-TTCT) (5–15) | [39] |
IVS-I-1 (G > T) (2–5) | [39] | IVS-II-654 (C > T) (–10) | [9] |
Disclaimer/Publisher’s Note: The statements, opinions and data contained in all publications are solely those of the individual author(s) and contributor(s) and not of MDPI and/or the editor(s). MDPI and/or the editor(s) disclaim responsibility for any injury to people or property resulting from any ideas, methods, instructions or products referred to in the content. |
© 2023 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
Share and Cite
Rujito, L.; Maritska, Z.; Sofro, A.S. β Thalassemia Mutation Flow in Indonesia: A Migration Perspective. Thalass. Rep. 2023, 13, 253-261. https://doi.org/10.3390/thalassrep13040022
Rujito L, Maritska Z, Sofro AS. β Thalassemia Mutation Flow in Indonesia: A Migration Perspective. Thalassemia Reports. 2023; 13(4):253-261. https://doi.org/10.3390/thalassrep13040022
Chicago/Turabian StyleRujito, Lantip, Ziske Maritska, and Abdul Salam Sofro. 2023. "β Thalassemia Mutation Flow in Indonesia: A Migration Perspective" Thalassemia Reports 13, no. 4: 253-261. https://doi.org/10.3390/thalassrep13040022