Applicability of a clinical scoring criteria for disease severity of ß-thalassemia/hemoglobin E in Indonesia
AbstractBackground: β-thalassemia/HbE presents with a variety of clinical symptoms, from asymptomatic to severe, requiring routine transfusion. However, there is currently no agreed classification system to stratify patients based on clinical severity of β-thalassemia/HbE in the Indonesian population. Thailand has already established a classification system, and this study aimed to identify the applicability of the Thailand clinical scoring criteria to determine the severity of β-thalassemia/HbE in the Indonesian population.
Methods: This descriptive study was conducted by evaluating patients with β-thalassemia/HbE, who were classified into mild, moderate, or severe groups based on the Thailand clinical scoring criteria.
Results: A total of 293 subjects with β-thalassemia/HbE were included. Based on this clinical scoring criteria, it was found that only 21.5% of patients were classified as mild, and the remaining 35.5% and 44% were classified as moderate and severe respectively. Approximately 68.2% of the subjects in the severe group received transfusion at <4 years old, while only 10% of those in the mild group were transfused at the same age. In the mild group, only 10% of the subjects underwent routine transfusion, compared to 98.4% of the subjects in the severe group. In addition, only 27% of the subjects in the mild group showed stunted growth, while that in the moderate and severe groups were 54.5% and 86.8%, respectively.
Conclusion: Thailand clinical scoring criteria is able to determine the severity of Indonesia thalassemia patient which needs further management, i.e. transfusion and observation of stunted growth. This scoring system will help provide the provision of the most ideal management for the groups of patients based on their requirements.
Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008;88(6):480–7. https://doi.org/10.2471/BLT.06.036673
Fucharoen S, Weatherall DJ. The hemoglobin E thalassemias. Cold Spring Harb Perspect Med. 2012;2(8):a011734. https://doi.org/10.1101/cshperspect.a011734
Danjou F, Anni F, Galanello R. Beta-thalassemia: from genotype to phenotype. Haematologica. 2011;96(11):1573–5. https://doi.org/10.3324/haematol.2011.055962
Sripichai O, Makarasara W, Munkongdee T, Kumkhaek C, Nuchprayoon I, Chuansumrit A, et al. A scoring system for the classification of beta-thalassemia/HbE diasease severity. Am J Hematol. 2008;83(6):482–4. https://doi.org/10.1002/ajh.21130
Soares P, Trejaut JA, Loo JH, Hill C, Mormina M, Lee CL, et al. Climate change and postglacial human dispersals in Southeast Asia. Mol Biol Evol. 2008;25(6):1209–18. https://doi.org/10.1093/molbev/msn068
Wahidiyat PA. Thalassemia and its problems in Indonesia [Lecture]. Presented at: The 2nd international scientific meeting on hematology, oncology, thrombosis, and transplantation/transfusion in indonesia. Jakarta; 2016.
Sahu PK, Pati SS, Mishra SK. Genotype-phenotype correlation of b-thalassemia spectrum of mutations in an Indian population. Hematol Rep. 2012;4(2):e9. https://doi.org/10.4081/hr.2012.e9
Musallam KM, Taher AT, Rachmilewitz EA. b-Thalassemia intermedia: a clinical perspective. Cold Spring Harb Perspect Med. 2012;2(7):a013482. https://doi.org/10.1101/cshperspect.a013482
Fucharoen S, Winichagoon P. Clinical and hematological aspects of hemoglobin E beta-thalassemia. Curr Opin Hematol. 2000;7(2):106–12. https://doi.org/10.1097/00062752-200003000-00006
Panigrahi I, Agarwal S. Genetic determinants of phenotype in beta-thalassemia. Hematology. 2008;13(4):247–52. https://doi.org/10.1179/102453308X316031
Cao A, Galanello R. Beta-thalassemia. Genet Med. 2010;12(2):61–76. https://doi.org/10.1097/GIM.0b013e3181cd68ed
Cappellini N, Cohen A, Eleftheriou A, Piga A, Porter J. Guidelines for the clinical management of thalassemia. Thalassemia International Federation; 2000.
Sripichai O, Munkongdee T, Kumkhaek C, Svasti S, Winichagoon P, Fucharoen S. Coinheritance of the different copy numbers of alpha-globin gene modifies severity of beta-thalassemia/Hb E disease. Ann Hematol. 2008;87(5):375–9. https://doi.org/10.1007/s00277-007-0407-2
Copyright (c) 2018 Pustika A. Wahidiyat, Sudigdo Sastroasmoro, Suthat Fucharoen, Iswari Setianingsih, Siti A. Putriasih
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
Authors who publish with Medical Journal of Indonesia agree to the following terms:
- Authors retain copyright and grant Medical Journal of Indonesia right of first publication with the work simultaneously licensed under a Creative Commons Attribution-NonCommercial License that allows others to remix, adapt, build upon the work non-commercially with an acknowledgment of the work’s authorship and initial publication in Medical Journal of Indonesia.
- Authors are permitted to copy and redistribute the journal's published version of the work non-commercially (e.g., post it to an institutional repository or publish it in a book), with an acknowledgment of its initial publication in Medical Journal of Indonesia.