Transfusion Dependent Alpha-Thalassemia: A Case Report
Abstract
Talasemia merupakan penyakit anemia herediter yang paling sering ditemukan terjadi akibat kondisi genetik dari sintesis hemoglobin yang tidak adekuat atau sintesis hemoglobin abnormal dalam eritrosit. Prevalensi talasemia alfa tinggi terutama di daerah tropis dan sub-tropis (seperti Asia Tenggara, Mediterania, Timur Tengah, dan Afrika) dimana prevalensinya sebesar 12-50%. Pada sebagian besar kasus, talasemia alfa tidak menimbulkan gejala klinis berat dan jarang membutuhkan terapi transfusi darah rutin. Pada kasus An. K, usia 13 tahun, datang ke Poli Anak RS. RSUD H. Abdul Manap dengan keluhan lemas dan mau melakukan transfusi darah yang rutin dilakukan 1 bulan sekali. An. K didiagnosa menderita Talasemia alfa. Setelah dilakukan pengumpulan data secara retrospektif didapatkan hasil Analisa DNA bahwa pasien merupakan penderita talasemia alfa/ penyakit HbH dengan jenis mutasi heterosigot ganda Hb Adana dan Hb Constant Spring sehingga membutuhkan transfusi darah rutin.
Downloads
References
Ali, M., Yassin, M.A., & Aldeeb, M. (2020). Iron Overload in a Patient with Non-Transfusion-Dependent Hemoglobin H Disease and Borderline Serum Ferritin : Can We Rely on Serum Ferritin for Monitoring in This Group of Patients?. Case Rep Oncol, 13(2), 668-673. Https://Doi.Org/10.1159/000507653
Betts, M., Flight, P.A., Paramore, L.C., Tian, L., Milenkovic, D., & Sheth, S. (2019). Systematic Literature Review of the Burden of Disease and Treatment for Transfusion-dependent êž´-Thalassemia. Clin Ther, 42(2), 322-337. Https://Doi.Org/10.1016/j.clinthera.2019.12.003.
Goh, L.P., Chong, E.T.J., & Lee, P-C. (2020). Prevalence of Alpha(α)-Thalassemia in Southeast Asia (2010–2020): A Meta-Analysis Involving 83,674 Subjects. Int J Environ Res Public Health, 17(20), 7354. Https://Doi.Org/10.3390/ijerph17207354
Harewood, J., & Azevedo, A.M. (2022) . Alpha Thalassemia. StatPearls publishing. Https://www.ncbi.nlm.nih.gov/books/NBK441826/
Lal, A. (no date). Treating Thalassemia: Hemoglobin H Disease. https://thalassemia.com/treatment-HbH-Lal.aspx#gsc.tab=0 (Accessed: September 6, 2023).
Laltanpuii, Mourya, A., & Patil, M. (2020). Case Report on Thalassemia in Children. Indian Journal of Forensic Medicine & Toxicology. Https://Doi.Org/10.37506/ijfmt.v14i4.12692
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. (2022). Epidemiologic Trends of Thalassemia, 2006-2018: A Nationwide Population-Based Study. J Clin Med, 11(9), 2289. Https://Doi.Org/10.3390/jcm11092289
NHS. (2022). Thalassaemia. NHS. https://www.nhs.uk/conditions/thalassaemia/symptoms/
TIF. (2021). Guidelines for The Management of Transfusion Dependent Thalassaemia (TDT). TIF.
TIF. (2022). Global Thalassaemia Review 2022. TIF.
Widyawati. (2022). Talasemia Penyakit Keturunan, Hindari dengan Deteksi Dini. Kementerian Kesehatan RI. https://sehatnegeriku.kemkes.go.id/baca/rilis-media/20220510/5739792/talasemia-penyakit-keturunan-hindari-dengan-deteksi-dini/#:~:text=Sejak%20tahun%202012%20sebanyak%204.896,sampai%20tahun%202020%20terus%20meningkat.
WHO. (2021). Regional desk review of haemoglobinopathies with an emphasis on thalassaemia and accessibility and availability of safe blood and blood products as per these patients’ requirement in South-East Asia under universal health coverage. WHO.
Copyright (c) 2022 Priska Bonnie Widiyanti, Sabar Hutabarat
This work is licensed under a Creative Commons Attribution-ShareAlike 4.0 International License.
