Thalassemia and Hemoglobinopathies in Thailand: A Systematic Review
Article Sidebar
Main Article Content
Abstract
Thalassemia and hemoglobinopathies are inherited autosomal recessive blood diseases, that have been the major health problem in Thailand. The study on the prevalence of thalassemia and hemoglobinopathies is important for the prevention and control of thalassemia diseases. The object of this article is to provide the current prevalence of thalassemia mutations in Thailand, focusing on common α- and β-thalassemia mutations. The prevalence of α-thalassemia mutations and the data reveal that the frequency of α0-thalassemia (SEA type) is the most common throughout the country. Meanwhile, α+-thalassemia (3.7 kb deletion) is also high, followed by 4.2 kb deletion. While codon 41/42 (-TCTT) and codon 17 (A>T) make up the majority of β-thalassemia mutations, the frequency of these two types is high, accounting for more than 50% in the North, Northeast, and Central Thailand. While it is lower in southern Thailand, averaging about 22-32% because codon 19 (A>G) is widely distributed after codon 41/42. However, Hb E is the major β-hemoglobinopathy owing to its high prevalence in all regions.
Article Details
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
JHSAM publishes all articles in full open access, meaning unlimited use and reuse of articles with appropriate credit to the authors.
All our articles are published under a Creative Commons "CC-BY-NC-ND 4.0". License which permits use, distribution and reproduction in any medium,
provided that the original work is properly cited and is used for noncommercial purposes.
References
Gu X, Zeng Y. A review of the molecular diagnosis of thalassemia. Hematology. 2002;7(4)203-9.
Chaibunruang A, Sornkayasit K, Chewasateanchai M, Sanugul P, Fucharoen G, Fucharoen S. Prevalence of thalassemia among newborns: a re-visited after 20 years of a prevention and control program in Northeast Thailand. Mediterr J Hematol Infect Dis. 2018;10:1-6.
Buakoaw S. Guidelines for the care of thalassemia patients in general practice [Internet]. Nonthaburi: Department of Medical Services; 2017. Available from https://www.biogenetech.co.th/wp-content/uploads/2018/01/Guidelines-for-thalassemia-care.pdf
Wheatherall DJ. The thalassemia syndrome. 4th ed.: Oxford: Blackwell Scientific Publication; 2001.
Weatherall DJ, Clegg JB, Higgs DR, Wood WG. The hemoglobinopathies. USA: McGraw-Hill; 1989.
Globin Gene Server [Internet]. Pennsylvania: Pennsylvania State University; 1998. Available from: http//globin.bx.psu.edu/html/
images.html
Chui DH, Wave JS. Hydrops fatalist caused by alpha-thalassemia: an emerging health care problem. Blood. 1998;91(7):2213-22.
Hundrieser J, Laig M, Yougvanit P, Sriboonlue P, Sanguansermsri T, Kuhnau W, et al. Study of alpha-thalassemia in northeastern Thailand at the DNA level. Hum Hered. 1990;40(2):85-8.
Singsanan S, Fucharoen G, Savongsy O, Sanchaisuriya K, Fucharoen S. Molecular characterization and origins of Hb Constant Spring and Hb Pakse in Southeast Asian populations. Ann Hematol. 2007;86(9):665-9.
Hockham C, Ekwattanakit S, Bhatt S, Penman SB, Gupta S, Viprakasit V, et al. Estimating the burden of α-thalassemia in Thailand using a comprehensive prevalence database for Southeast Asia. eLife 2019:8;e40580,1-28.
Clark BE, Thein SL. Molecular diagnosis of hemoglobin disorders. Clin Lab Heamatol. 2004;26(3):159-76.
Wheatheall DJ. Phenotype-genotype relationships in monogenic disease: lessons from the thalassemias. Nat Rev Genet. 2001;2(4):245-55.
Globin gene server. Pennsylvania: Pennsylvania State University; 1998. Available from http//globin.bx.psu.edu/cgi-bin/hbvar/quey_vars3
Tatu T, Kiewkarnkha T, Khuntaruk S, Khamrin S, Suwannasin S, Kasinrerk W. Screening for co-existence of alpha-thalassemia in beta-thalassemia and in Hb E heterozygote via enzyme-link immunosorbent assay for Hb Bart’s and embryonic zeta-globin chain. Int J Hematol. 2012;95(4):386-93.
Charoenkwan P, Wanapirak C, Thanarattanakorn P, Sekararithi R, Sae-Tung R, Sitipreechacharn S, et al. Hemoglobin E levels in double heterozygotes of hemoglobin E and SEA-type alpha-thalassemia. Southeast Asian J Trop Med Public Health. 2005;36(2):467-70.
Nopparatana C, Panich V, Saechan V, Nopparatana C, Rungjeadpha J, Pornpatkul M, et al. The spectrum of beta-thalassemia mutations in Southeast Thailand. Southeast Asian J Trop Med Public Health. 1995;26 Suppl 1:229-34.
Thein SL, Winichagoon P, Hesketh C, Best S, Fucharoen S, Wasi P, et al. The molecular basis of beta-thalassemia in Thailand: application to prenatal diagnosis. Am J Hum Genet. 1990;47(3):369-75.
Huisman TH. Hb E and alpha-thalassemia; variability in the assembly of beta E chain containing tetramers. Hemoglobin. 1997;21(3)217-36.
Svasti J, Srisomsap C, Winichagoon P, Fucharoen S. Deletion and structural analysis of abnormal hemoglobins found in Thailand. Southeast Asian J Trop Med Public Health. 1999;30 Suppl 2:88-93.
Ho PJ, Hall GW, Luo LY, Weatherall DJ, Thein SL. Beta-thalassemia intermedia: is it possible consistently to predict phenotype from genotype? Br. J. Haematol. 1998;100(1):70-8.
Fucharoen S, Winichagoon P. Thalassemia in SouthEast Asia: problems and strategy for prevention and control. Southeast Asian J Trop Med Public Health. 1992;234:647-55.
Tanphaichitr VS. Current situation of thalassemia in Thailand. Bangkok: Ministry of Public Health, Thailand; 1999.
Hundriser J, Sanguansermsri T, Papp T, Flatz G. Alpha-thalassemia in northern Thailand. Frequency of deletional types characterized at the end of DNA level. Hum Hered. 1988;38(4):211-5.
Kitsirisakul B, Steger HF, Sangoansermsri T. Frequency of alpha-thalassemia-1 of Southeast Asian-type among pregnant women in northern Thailand determined by PCR technique. Southeast Asian J Trop Med Public Health. 1996;27(2):362-3.
Lemmens-Zygulska M, Eigel A, Helbig B, Sanguansermsri T, Horst J, Flatz G. Prevalence of alpha-thalassemias in northern Thailand. Hum Genet. 1996;98(3):345-7.
Choopayak C, Mirassena S, Pudendaen C, Jiraviriyakul A, Sangarun K, Shimbhu D. Thalassemia mutations in the lower northern part of Thailand. Naresuan Univ J. 2005;13(3):19-29.
Peeraporn W, Thanormrat P, Srithipayawan S, Jermnim N, Niyomthom S, Nimnuch N. Risk of a couple having a child with severe thalassemia syndrome, prevalence in lower northern Thailand. Southeast Asian J Trop Med Public Health. 2006;37(2):366-9.
Pharephan S, Siriratanapa P, Makonkawkeyoon S, Tuntiwechapikul W, Makonkawkeyoon L. Prevalence of α-thalassemia genotypes in pregnant women in northern Thailand. Indian J Med Res. 2016;143:315-22.
Wanapirak C, Muninthorn W, Sanguansermsri T, Dhananjayanonda P, Tongson T. Prevalence of thalassemia in pregnant women at Maharaj Nakorn Chiang Mai Hospital. J Med Assoc Thai. 2004;87(12):1415-18.
Charoenporn P, Wong P, Mirasena S, Sanguansermsri P, Jermnim S, Niyomtham S, et al. The spectrum of beta-thalassemia mutations in Phitsanulok. J Hematol Transfus Med. 2013:23;277-82.
Limveeraprajak E. Prevalence of single and double thalassemia carrier in pregnant women and spouses: Case study of Sawanpracharak Hospital. J Assoc Med Sci. 2019;52(1):56-62.
Parameeyong E, Pengyo P, Panyasai S. Incidence of α-thalassemia 1 carriers in Phayao province. J Hematol Transfus Med. 2014;24:371-7.
Chaibunruang A, Sornkayasit K, Chewasateanchai M, Sanugul P, Fucharoen G, Fucharoen S. Prevalence of thalassemia among newborns: a re-visited after 20 years of a prevention and control program in Northeast Thailand. Mediterr J Hematol Infect Dis. 2018;10:1-6.
Vimolsarte S, Vimolsarte C, Punthanaprated U. Prenatal screening for severe thalassemia in health service area 7, Thailand. J Office DPG Khon Kaen. 2014;2:64-70.
Tienthavorn V, Pattanapongsthorn J, Charoensak S, Sae-Tung R, Charoenkwan P, Sanguansermsri T. Prevalence of thalassemia carriers in Thailand. Thai J Hematol Transf Med. 2006:16;307-12.
Nopparatana C, Nopparatana C, Saechan V, Karnchanaopas S, Srewaradachpisal K. Prenatal diagnosis of α- and β-thalassemias in southern Thailand. Int J Hematol. 2020;111:284-92.
Panyasai S, Laoleart W, Pimsri W, Kongsatree L. Application of an allele specific PCR technique in the epidemiological study of Hb Pakse’ at Nakon Si Thammarat, Thailand. Thai J Hematol Transf Med. 2008:18;43-51.
Boonyawat B, Monseranusorn C, Traivaree C. Molecular analysis of beta-globin and mutations among Thai beta-thalassemia children: results from a single center study. Appl Clin Genet. 2014;7:253-8.
Nuinoon M, Rattanaporn P, Bengchareonwong T, Choowet A, Suwanno K, Saekoo N, et al. Genetic predictions of life expectancy in southern Thai patients with β0-thalassemia/Hb E. Biomed Rep. 2022:16(6);1-10.
Panichchob P, Lamdeelert P, Wongsariya P, Wongsariya P, Wongwattanasanti P, Tepakhan W, et al. Molecular spectrum of β-thalassemia mutations in Central to Eastern Thailand. Hemoglobin. 2021:45(2);97-102.
Ruengdit C, Panyasai S, Kunyanone N, Phornsiricharoenphant W, Ngamphiw C, Tongsima S, et al. Characterization and identification of Hb Bart’s hydrops fetalis caused by a compound heterozygous mutation --SEA/--CR, a novel α0-thalassemia mutation. Int J Lab Hematol. 2020;42(3):e116-20.
Ruengdit C, Khamphikham P, Jinorose N, Pornprasert S. Hb Bart’s hydrops fetalis syndrome and Hb H disease caused by deletional Chiang Rai --CR α0-thalassemia in two unrelated Thai families. Hemoglobin. 2021;45(2):75-9.
Goh LPW, Chong ETJ, Lee P-C. Prevalence of alpha α-thalassemia in Southeast Asia, 2010-2020: a meta-analysis involving 83,674 subjects. Int J Environ Res Public Health. 2020;17:1-11.
Galanello R, Cao A. Alpha-thalassemia. Genet Med. 2011:13(2);83-8.
Fucharoen S, Winichagoon P. Haemoglobinipathies in Southeast Asia. Indian J Med Res. 2011;134:498-506.
Martin A, Thompson AA. Thalassemias. Pediatr Clin North Am. 2013;60(6):1383-91.
Rachmilewitz EA, Giardian PJ. How I trust thalassemia. Blood. 2011;118:3479-88.
Vento S, Cainelli F, Cesario F. Infections and thalassemia. Lancet Infect Dis. 2006;6(4):226-33.
Fucharoen S, Weatherall DJ. Progress toward the control and management of thalassemias. Hematol Oncol Clin N Am. 2016;30:359-71.
Tongsong T, Charoenkwan P, Sirivatanapa P, Wanapirak C, Piyamongkol W, Sirichotiyakul S, et al. Effectiveness of the model for prenatal control of severe thalassemia. Prenat Diagn. 2013;32:1-7.