Impact of the detection of ζ-globin chains and hemoglobin Bart’s using immunochromatographic strip tests for α0-thalassemia (--SEA) differential diagnosis
Autoři:
Supansa Pata aff001; Witida Laopajon aff001; Matawee Pongpaiboon aff002; Weeraya Thongkum aff001; Nattapong Polpong aff001; Thongperm Munkongdee aff004; Kittiphong Paiboonsukwong aff004; Suthat Fucharoen aff004; Chatchai Tayapiwatana aff001; Watchara Kasinrerk aff001
Působiště autorů:
Division of Clinical Immunology, Department of Medical Technology, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand
aff001; Biomedical Technology Research Center, National Center for Genetic Engineering and Biotechnology, National Science and Technology Development Agency at the Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand
aff002; Center of Biomolecular Therapy and Diagnostic, Faculty of Associated Medical Sciences, Chiang Mai University, Chiang Mai, Thailand
aff003; Thalassemia Research Center, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, Thailand
aff004
Vyšlo v časopise:
PLoS ONE 14(10)
Kategorie:
Research Article
doi:
https://doi.org/10.1371/journal.pone.0223996
Souhrn
α0-Thalassemia is an inherited hematological disorder caused by the deletion of α-globin genes. The Southeast Asian deletion (--SEA) is the most common type of α0-thalassemia observed in Southeast Asian countries. Regarding WHO health policy, an effective α0-thalassemia screening strategy is needed to control new severe α-thalassemia cases. In this study, a monoclonal antibody panel was used to develop immunochromatographic (IC) strip tests for detecting the Hb Bart’s and ζ-globin chain. Among 195 samples, all α0-thalassemia traits (78 α0-thalassemia (--SEA) and 4 α0-thalassemia (--THAI)) had low MCV or MCH values. The sensitivity, specificity, PPV and NPV of the IC strip tests for ζ-globin and Hb Bart’s for screening α0-thalassemia (--SEA) within the low MCV or MCH samples were 100%, 65.2%, 90.7%, 100% and 96.2%, 47.8%, 86.6%, 78.6%, respectively. All 4 α0-thalassemia (--THAI) traits were negative for ζ-globin chains but positive for Hb Bart’s using the IC strip tests. These results led to a α0-thalassemia screening being proposed in which blood samples are first evaluated by MCV, MCH and Hb typing. Samples with high MCV and MCH values are excluded for the presence of the α0-thalassemia gene. Samples with low MCV or MCH values are assayed using the developed IC strip tests, where only samples testing positive are further assayed for α0-thalassemia by PCR. Patients with Hb H, EA Bart’s or EF Bart’s diseases do not need to use this IC strip assay. Thus, in this study, a simple and cost effective α0-thalassemia point of care test was developed.
Klíčová slova:
Antibodies – Asia – Enzyme-linked immunoassays – Hematology – Hemoglobin – Polymerase chain reaction – Thalassemia
Zdroje
1. Weatherall DJ, Clegg JB. The Thalassemia Syndromes. 4th ed: Wiley-Blackwell; 2001.
2. Harteveld CL, Oosterhuis WP, Schoenmakers CH, Ananta H, Kos S, Bakker Verweij M, et al. alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene. Eur J Haematol. 2010;84(4):354–8. doi: 10.1111/j.1600-0609.2009.01380.x 19912309.
3. Galanello R, Cao A. Gene test review. Alpha-thalassemia. Genetics in medicine: official journal of the American College of Medical Genetics. 2011;13(2):83–8. doi: 10.1097/GIM.0b013e3181fcb468 21381239.
4. Leung WC, Leung KY, Lau ET, Tang MH, Chan V. Alpha-thalassaemia. Semin Fetal Neonatal Med. 2008;13(4):215–22. doi: 10.1016/j.siny.2008.02.006 18406222.
5. Chui DH. Alpha-thalassaemia and population health in Southeast Asia. Ann Hum Biol. 2005;32(2):123–30. doi: 10.1080/03014460500075084 16096207.
6. Chui DH. Alpha-thalassemia: Hb H disease and Hb Barts hydrops fetalis. Annals of the New York Academy of Sciences. 2005;1054:25–32. doi: 10.1196/annals.1345.004 16339648.
7. Liao C, Pan M, Han J, Yang X, Zhen L, Li J, et al. Prenatal control of Hb Bart's hydrops fetalis: a two-year experience at a mainland Chinese hospital. The journal of maternal-fetal & neonatal medicine: the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstet. 2015;28(4):413–5. doi: 10.3109/14767058.2014.918597 24766075.
8. Fucharoen S, Winichagoon P, Thonglairoam V, Siriboon W, Siritanaratkul N, Kanokpongsakdi S, et al. Prenatal diagnosis of thalassemia and hemoglobinopathies in Thailand: experience from 100 pregnancies. Southeast Asian J Trop Med Public Health. 1991;22(1):16–29. 1948258.
9. Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood. 2010;115(22):4331–6. doi: 10.1182/blood-2010-01-251348 20233970; PubMed Central PMCID: PMC2881491.
10. Piel FB, Weatherall DJ. The alpha-thalassemias. N Engl J Med. 2014;371(20):1908–16. doi: 10.1056/NEJMra1404415 25390741.
11. Chui DH, Waye JS. Hydrops fetalis caused by alpha-thalassemia: an emerging health care problem. Blood. 1998;91(7):2213–22. 9516118.
12. Weatherall D. The inherited disorders of haemoglobin: an increasingly neglected global health burden. Indian J Med Res. 2011;134:493–7. 22089613; PubMed Central PMCID: PMC3237249.
13. Chang JG, Lee LS, Lin CP, Chen PH, Chen CP. Rapid diagnosis of alpha-thalassemia-1 of southeast Asia type and hydrops fetalis by polymerase chain reaction. Blood. 1991;78(3):853–4. 1859898.
14. Chong SS, Boehm CD, Higgs DR, Cutting GR. Single-tube multiplex-PCR screen for common deletional determinants of alpha-thalassemia. Blood. 2000;95(1):360–2. 10607725.
15. Hartwell SK, Srisawang B, Kongtawelert P, Christian GD, Grudpan K. Review on screening and analysis techniques for hemoglobin variants and thalassemia. Talanta. 2005;65(5):1149–61. doi: 10.1016/j.talanta.2004.09.013 18969925.
16. Panyasai S, Sringam P, Fucharoen G, Sanchaisuriya K, Fucharoen S. A simplified screening for alpha-thalassemia 1 (SEA type) using a combination of a modified osmotic fragility test and a direct PCR on whole blood cell lysates. Acta Haematol. 2002;108(2):74–8. doi: 10.1159/000064746 12187024.
17. Cohen AR, Galanello R, Pennell DJ, Cunningham MJ, Vichinsky E. Thalassemia. Hematology Am Soc Hematol Educ Program. 2004:14–34. doi: 10.1182/asheducation-2004.1.14 15561674.
18. Cao A, Kan YW. The prevention of thalassemia. Cold Spring Harb Perspect Med. 2013;3(2):a011775. doi: 10.1101/cshperspect.a011775 23378598; PubMed Central PMCID: PMC3552345.
19. Wasi P, Pravatmuang P, Winichagoon P. Immunologic diagnosis of alpha-thalassemia traits. Hemoglobin. 1979;3(1):21–31. doi: 10.3109/03630267909069152 457421.
20. Makonkawkeyoon L, Ongchai S, Sanguansermsri T. Determination of hemoglobin Bart's in alpha thalassemia traits by two-site immunoradiometric assay. II. Detection of hemoglobin Bart's in alpha thalassemia traits. J Med Assoc Thai. 1992;75(10):565–9. 1306192.
21. Tayapiwatana C, Kuntaruk S, Tatu T, Chiampanichayakul S, Munkongdee T, Winichagoon P, et al. Simple method for screening of alpha-thalassaemia 1 carriers. Int J Hematol. 2009;89(5):559–67. doi: 10.1007/s12185-009-0331-4 19440681.
22. Kutlar F, Moscoso H, Kiefer CR, Garver FA, Beksac S, Onderoglu L, et al. Quantities of adult, fetal and embryonic globin chains in the blood of eighteen- to twenty-week-old human fetuses. J Chromatogr. 1991;567(2):359–68. doi: 10.1016/0378-4347(91)80142-y 1939469.
23. Chui DH, Wong SC, Chung SW, Patterson M, Bhargava S, Poon MC. Embryonic zeta-globin chains in adults: a marker for alpha-thalassemia-1 haplotype due to a greater than 17.5-kb deletion. N Engl J Med. 1986;314(2):76–9. doi: 10.1056/NEJM198601093140203 3941693.
24. Tang W, Luo HY, Albitar M, Patterson M, Eng B, Waye JS, et al. Human embryonic zeta-globin chain expression in deletional alpha-thalassemias. Blood. 1992;80(2):517–22. 1627804.
25. Bunkall C, Ghallyan N, Elliott C, Van de Water N, Chan G. Evaluation of an immunochromatographic strip test for alpha-thalassaemia screening. Int J Lab Hematol. 2018;40(6):691–6. doi: 10.1111/ijlh.12905 30118579.
26. Winichagoon P, Kumpan P, Holmes P, Finlayson J, Newbound C, Kabral A, et al. Validation of the immunochromatographic strip for alpha-thalassemia screening: a multicenter study. Transl Res. 2015;165(6):689–95. doi: 10.1016/j.trsl.2014.10.013 25450870.
27. Prayalaw P, Fucharoen G, Fucharoen S. Routine screening for alpha-thalassaemia using an immunochromatographic strip assay for haemoglobin Bart's. J Med Screen. 2014;21(3):120–5. doi: 10.1177/0969141314538611 24907301.
28. Pata S, Khummuang S, Pornprasert S, Tatu T, Kasinrerk W. A simple and highly sensitive ELISA for screening of the alpha-thalassemia-1 Southeast Asian-type deletion. J Immunoassay Immunochem. 2014;35(2):194–206. doi: 10.1080/15321819.2013.838963 24295182.
29. Phunpae P, Chanwong S, Tayapiwatana C, Apiratmateekul N, Makeudom A, Kasinrerk W. Rapid diagnosis of tuberculosis by identification of Antigen 85 in mycobacterial culture system. Diagn Microbiol Infect Dis. 2014;78(3):242–8. doi: 10.1016/j.diagmicrobio.2013.11.028 24418370.
30. Chong SS, Boehm CD, Cutting GR, Higgs DR. Simplified multiplex-PCR diagnosis of common southeast asian deletional determinants of alpha-thalassemia. Clin Chem. 2000;46(10):1692–5. Epub 2000/10/06. 11017952.
31. Pichanun D, Munkongdee T, Klamchuen S, Butthep P, Winichagoon P, Fucharoen S, et al. Molecular screening of the Hbs Constant Spring (codon 142, TAA>CAA, alpha2) and Pakse (codon 142, TAA>TAT, alpha2) mutations in Thailand. Hemoglobin. 2010;34(6):582–6. Epub 2010/11/17. doi: 10.3109/03630269.2010.526914 21077767.
32. Pata S, Pongpaiboon M, Laopajon W, Munkongdee T, Paiboonsukwong K, Pornpresert S, et al. Immunostick Test for Detecting zeta-Globin Chains and Screening of the Southeast Asian alpha-Thalassemia 1 Deletion. Biol Proced Online. 2019;21:15. Epub 2019/08/08. doi: 10.1186/s12575-019-0104-2 31388336; PubMed Central PMCID: PMC6670165.
33. Sanchaisuriya K, Fucharoen S, Fucharoen G, Ratanasiri T, Sanchaisuriya P, Changtrakul Y, et al. A reliable screening protocol for thalassemia and hemoglobinopathies in pregnancy: an alternative approach to electronic blood cell counting. Am J Clin Pathol. 2005;123(1):113–8. doi: 10.1309/fuf9evgq24v1pktp 15762286.
34. Guidelines for investigation of the alpha and beta thalassaemia traits. The Thalassaemia Working Party of the BCSH General Haematology Task Force. J Clin Pathol. 1994;47(4):289–95. doi: 10.1136/jcp.47.4.289 7517954; PubMed Central PMCID: PMC501928.
35. Jomoui W, Fucharoen G, Sanchaisuriya K, Fucharoen S. Screening of (-SEA) alpha-thalassaemia using an immunochromatographic strip assay for the zeta-globin chain in a population with a high prevalence and heterogeneity of haemoglobinopathies. J Clin Pathol. 2017;70(1):63–8. doi: 10.1136/jclinpath-2016-203765 27312111.
36. Wen L, Zhu P, Liu Y, Pan Q, Qu Y, Xu X, et al. Development of a fluorescence immunochromatographic assay for the detection of zeta globin in the blood of (--(SEA)) alpha-thalassemia carriers. Blood Cells Mol Dis. 2012;49(3–4):128–32. doi: 10.1016/j.bcmd.2012.05.011 22677106.
37. Chaibunruang A, Prommetta S, Yamsri S, Fucharoen G, Sae-Ung N, Sanchaisuriya K, et al. Molecular and hematological studies in a large cohort of alpha(0)-thalassemia in northeast Thailand: data from a single referral center. Blood Cells Mol Dis. 2013;51(2):89–93. doi: 10.1016/j.bcmd.2013.04.003 23639268.
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