Hemofilia

  • Baiq nindya annisa putri Mahasiswa Program Studi Pendidikan Dokter , Fakultas kedokteran Universitas Mataram
  • Devi Rahmadona
Keywords: Hemofilia, perdarahan, faktor koagulasi

Abstract

Hemophilia is a hereditary disease characterized by heavy bleeding. This disease presents as minor posttraumatic bleeding or spontaneous bleeding. Hemophilia is caused by abnormalities in the coagulation protein factors. Factor VIII (FVIII) causes hemophilia A, and factor IX (FIX) causes hemophilia B. Hemophilia can be diagnosed through gene sequencing by identifying carrier status. At the time of prenatal, hemophilia can be detected when the fetus is 12 weeks old, but has a risk of miscarriage 0.5-1.0%. Hemophilia is treated by two approaches: management of acute bleeding and prophylaxis. Treatment of hemophilia must pay attention to the dose, schedule, and target level. Hemophilia treatment can use recombinant factor VIII by involving virus inactivation and screening technology which is considered safer. Complications can occur due to the presence of inhibitors of the function of the action of coagulation protein factors, hemophilic arthropathy, and pseudotumor that triggers soft tissue bleeding that has the potential to injure internal organs. Prevention efforts are carried out by keeping patients away from activities that trigger physical bleeding wounds, and ensuring that patients have a normal immune system to receive routine vaccinations.

References

1. Kizilocak H, Young G. Diagnosis and treatment of hemophilia. Clin Adv Hematol Oncol. 2019;17(6):344–51.
2. Srivastava A, Santagostino E, Dougall A, Kitchen S, Sutherland M, Pipe SW, et al. WFH Guidelines for the Management of Hemophilia, 3rd edition. Haemophilia. 2020;26(Suppl 6):1–158.
3. Berntorp E, Shapiro AD. Modern haemophilia care. Lancet (London, England). 2012 Apr;379(9824):1447–56.
4. Peyvandi F, Garagiola I, Young G. The past and future of haemophilia: diagnosis, treatments, and its complications. Lancet (London, England). 2016 Jul;388(10040):187–97.
5. Zimmerman B, Valentino LA. Hemophilia: in review. Pediatr Rev. 2013 Jul;34(7):289–94; quiz 295.
6. Bertamino M, Riccardi F, Banov L, Svahn J, Molinari AC. Hemophilia Care in the Pediatric Age. J Clin Med [Internet]. 2017 May 19;6(5):54. Available from: https://pubmed.ncbi.nlm.nih.gov/28534860
7. Hegde A, Nair R, Upadhyaya S. Spontaneous intracerebral hemorrhage in hemophiliacs-A treatment dilemma. Int J Surg Case Rep. 2016;29:17–9.
8. Napolitano M, Kessler CM. 3 - Hemophilia A and Hemophilia B. In: Kitchens CS, Kessler CM, Konkle BA, Streiff MB, Garcia DABT-CH and T (Fourth E, editors. Consultative Hemostasis and Thrombosis (Fourth Edition) [Internet]. Philadelphia: Elsevier; 2019. p. 39–58. Available from: https://www.sciencedirect.com/science/article/pii/B9780323462020000030
9. Srivastava A, Brewer AK, Mauser-Bunschoten EP, Key NS, Kitchen S, Llinas A, et al. Guidelines for the management of hemophilia. Haemophilia. 2013 Jan;19(1):e1-47.
10. Sahu S, Lata I, Singh S, Kumar M. Revisiting hemophilia management in acute medicine. J Emerg Trauma Shock. 2011 Apr;4(2):292–8.
11. Makris M. Prophylaxis in haemophilia should be life-long. Blood Transfus. 2012 Apr;10(2):165–8.
12. Castaman G, Linari S. Prophylactic versus on-demand treatments for hemophilia: advantages and drawbacks. Expert Rev Hematol. 2018 Jul;11(7):567–76.
13. McEneny-King A, Chelle P, Henrard S, Hermans C, Iorio A, Edginton AN. Modeling of Body Weight Metrics for Effective and Cost-Efficient Conventional Factor VIII Dosing in Hemophilia A Prophylaxis. Pharmaceutics. 2017 Oct;9(4).
14. Cafuir LA, Kempton CL. Current and emerging factor VIII replacement products for hemophilia A. Ther Adv Hematol. 2017 Oct;8(10):303–13.
15. Lieuw K. Many factor VIII products available in the treatment of hemophilia A: an embarrassment of riches? J Blood Med. 2017;8:67–73.
16. Zhai J, Weng X, Zhang B, Peng H, Bian Y, Zhou L. Surgical management of hemophilic pseudotumor complicated by destructive osteoarthropathy. Blood Coagul fibrinolysis an Int J Haemost Thromb. 2015 Jun;26(4):373–7.
17.Carcao M, Moorehead P, Lillicrap D. Chapter 135 - Hemophilia A and B. In: Hoffman R, Benz EJ, Silberstein LE, Heslop HE, Weitz JI, Anastasi J, et al., editors. Hematology (Seventh Edition) [Internet]. Elsevier; 2018. p. 2001–22. Available from: https://www.sciencedirect.com/science/article/pii/B9780323357623001359
18. Kohler, H., & Grant, P. (2000). Plasminogen-Activator Inhibitor Type 1 and Coronary Artery Disease. The New England Journal of Medicine, 342(24), 1792–1801.
Published
2022-11-13
Section
Literature Review