Marker Biokimia Penyakit Talasemia-β: Tinjauan Sistematis tentang Diagnosis, Pemantauan, Anemia, Ferritin, Hepcidin, MCV, dan MCHC

Assha Luthfianie; Lantip Rujito

doi:10.55606/jurrike.v4i2.6447

Authors

Assha Luthfianie STIKes Mitra Keluarga
Lantip Rujito Universitas Jenderal Soedirman

DOI:

https://doi.org/10.55606/jurrike.v4i2.6447

Keywords:

Biochemistry, Diagnosis, Marker, Monitoring, Thalassemia-β

Abstract

Thalassemia is a genetic disorder characterized by impaired hemoglobin synthesis. This disease is caused by mutations in the globin gene, leading to disrupted production of globin chains. As a result, the red blood cells produced are dysfunctional and have a shorter lifespan, causing anemia. This condition requires proper medical management, including blood transfusions and other treatments. One way to detect and monitor the progression of thalassemia is by using biochemical markers that can identify changes in the patient’s body. Therefore, the aim of this systematic literature review is to identify biochemical markers that can be used for the diagnosis and monitoring of thalassemia. The literature used in this study includes articles on human thalassemia research published in the last 10 years. Literature searches were conducted in several academic databases using relevant keywords such as “biochemical markers for thalassemia,” “diagnosis of thalassemia,” and “thalassemia monitoring.” Based on the search results, several biochemical markers related to thalassemia were identified, including hepcidin, ferritin, and lipid profile. Ferritin plays a role in monitoring iron levels, which are often elevated in thalassemia patients, while hepcidin regulates iron homeostasis in the body. Additionally, other components involved in thalassemia diagnosis and monitoring include Mean Corpuscular Volume (MCV), Mean Corpuscular Hemoglobin (MCH), Mean Corpuscular Hemoglobin Concentration (MCHC), and hemoglobin levels. The findings of this systematic literature review are expected to provide a comprehensive overview of biochemical markers that can be used in the diagnosis and monitoring of thalassemia. By identifying relevant markers, it is hoped that more accurate and effective diagnostic methods will be developed in the future, leading to better monitoring of thalassemia patients.

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References

Alkholy, U. M., Mohamed, S. A., Elhady, M., Attar, S. E., Abdalmonem, N., & Zaki, A. (2019). Vascular endothelial growth factor and pulmonary hypertension in children with beta thalassemia major. J Pediatr (Rio J), 95(5), 593-599. https://doi.org/10.1016/j.jped.2018.05.003

Apidechkul, T., Yeemard, F., Chomchoei, C., Upala, P., & Tamornpark, R. (2021). Epidemiology of thalassemia among the hill tribe population in Thailand. PLoS One, 16(2). https://doi.org/10.1371/journal.pone.0246736

Bou-Fakhredin, R., Motta, I., & Cappellini, M. D. (2022). Advancing the care of ß-thalassemia patients with novel therapies. Blood Transfus, 20(1), 78-88.

Casu, C., Pettinato, M., Liu, A., Aghajan, M., Lo Presti, V., Lidonnici, M. R., et al. (2020). Correcting b-thalassemia by combined therapies that restrict iron and modulate erythropoietin activity. Blood, 136(17), 1968-1979. https://doi.org/10.1182/blood.2019004719

Davoudi-Kiakalayeh, A., Mohammadi, R., Pourfathollah, A. A., Siery, Z., & Davoudi-Kiakalayeh, S. (2017). Alloimmunization in thalassemia patients: New insight for healthcare. Int J Prev Med, 8, 1-7. https://doi.org/10.4103/ijpvm.IJPVM_246_16

Duan, H., Song, P., Li, R., Su, H., & He, L. (2023). Attenuating lipid metabolism in atherosclerosis: The potential role of antioxidative effects on low-density lipoprotein of herbal medicines. Front Pharmacol, 14(March), 1-14. https://doi.org/10.3389/fphar.2023.1161657

Harrison-Findik, D. D. (2010). Gender-related variations in iron metabolism and liver diseases. World J Hepatol, 2(8), 302-310. https://doi.org/10.4254/wjh.v2.i8.302

Jabbar, A., Akib, N. I., Parawansah, P., Yani, E., Fadilah, F., Irmawati, I., et al. (2023). Education dangers of anemia and use of blood add tablets (FE) to students at SMP Negeri 5 Kendari. EJOIN J Pengabdi Masy, 1(6), 543-548. https://doi.org/10.55681/ejoin.v1i6.1046

Jabbar, H. K., Hassan, M. K., & Al-Naama, L. M. (2022). Lipids profile in children and adolescents with β-thalassemia major. Hematol Transfus Cell Ther, 45(4), 467-472. https://doi.org/10.1016/j.htct.2022.09.1277

Jones, E., Pasricha, S. R., Allen, A., Evans, P., Fisher, C. A., Wray, K., et al. (2015). Hepcidin is suppressed by erythropoiesis in hemoglobin e β-thalassemia and β-thalassemia trait. Blood, 125(5), 873-880. https://doi.org/10.1182/blood-2014-10-606491

Kattamis, A., Forni, G. L., Aydinok, Y., & Viprakasit, V. (2020). Changing patterns in the epidemiology of β-thalassemia. Eur J Haematol, 1(1), 1-9. https://doi.org/10.1111/ejh.13512

Li, C. K. (2017). New trend in the epidemiology of thalassaemia. Best Pract. Res. Clin. Obstet. Gynaecol, 39, 16-26. https://doi.org/10.1016/j.bpobgyn.2016.10.013

Munkongdee, T., Chen, P., Winichagoon, P., Fucharoen, S., & Paiboonsukwong, K. (2020). Update in laboratory diagnosis of thalassemia. Front Mol Biosci, 7(May), 1-12. https://doi.org/10.3389/fmolb.2020.00074

Pagani, A., Nai, A., Silvestri, L., & Camaschella, C. (2019). Hepcidin and anemia: A tight relationship. Front Physiol, 10(October), 1-7. https://doi.org/10.3389/fphys.2019.01294

Sherief, L. M., Abd El-Salam, S. M., Kamal, N. M., El Safy, O., Almalky, M. A. A., Azab, S. F., et al. (2014). Nutritional biomarkers in children and adolescents with beta-thalassemia-major: An Egyptian center experience. Biomed Res Int, 2014. https://doi.org/10.1155/2014/261761

Paukner, K., Lesná, I. K., & Poledne, R. (2022). Cholesterol in the cell membrane—An emerging player in atherogenesis. Int J Mol Sci, 23(1). https://doi.org/10.3390/ijms23010533

Tantiworawit, A., Khemakapasiddhi, S., Rattanathammethee, T., Hantrakool, S., Chai Adisaksopha, C., Rattarittamrong, E., et al. (2021). Correlation of hepcidin and serum ferritin levels in thalassemia patients at Chiang Mai University Hospital. Biosci Rep, 41(2), 1-8. https://doi.org/10.1042/BSR20203352

World Health Organization. (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 [Internet]. Available from: https://apps.who.int/iris/handle/10665/344889.