Main Article Content
Rare Bleeding Disorders, Common Bleeding Pathway, Factor V, Factor VIII
Objective: To access the coagulation factor activity of common pathway in rare inherited bleeding disorder.
Study Design: Cross-Sectional
Duration: The study was carried out in 6 months from 01-09-2022 to 31-03-2023.
Methods: The Cross-Sectional study was carried out at the Dept. of Pathology (Hematology) and the Diagnostic & Research Laboratory – Liaquat University of Medical & Health Sciences, Jamshoro. 60 suspected cases of inherited clotting factor deficiencies involved in common pathway were taken, after taking informed written consent. All the diagnosed cases of acquired bleeding disorders, inherited clotting factors defect involved in extrinsic and intrinsic pathway and patient with Platelets functional disorders (Bernard soulier syndrome and Glanzman’s thrombasthenia) were excluded from the study. This study was conducted via nonprobability, convenient sampling and the data was analyzed via SPSS 21.0.
Results: Out of the total population of 60 patients with rare bleeding disorders, 55.2% (33) patients were male and 44.9% (27) were female. The median age at presentation to the tertiary care hospital was 9 years and 3 months, ranging from 4 months to 42 years. Among the rare blood disorders observed in a group of 60 patients, the distribution of cases varied across different conditions. Factor I (FI) accounted for 5 patients, making up approximately 8.33% of the total. Factor II (FII) exhibited a slightly higher prevalence, with 7 patients constituting around 11.67% of the sample. Factor V (FV) presented in 9 patients, representing approximately 15.00% of the total cases. Combined factor V and factor VIII (FVIII) showed the highest occurrence, with 12 patients making up around 20.00% of the sample. Factor VII (FVII) had a lower incidence, affecting 4 patients, or roughly 6.67% of the group. Factor X (FX) was observed in 6 patients, accounting for approximately 10.00% of the cases. Similarly, factor XI (FXI) presented in 8 patients, making up around 13.33% of the sample. Factor XIII (FXIII) had a relatively low prevalence, affecting 3 patients, or approximately 5.00% of the group. Lastly, the vitamin Kdependent clotting factors were identified in 6 patients, representing roughly 10.00% of the cases.
Conclusion: Among the rare blood disorders, combined factor V and factor VIII deficiencies were found to be most prevalent followed by deficiency of Factor V which is more prominent in male population.
2. Dorgalaleh A, Dadashizadeh G, Bamedi T. Hemophilia in Iran. Hematology. 2016; 21(5):300–310.
3. Peyvandi F, Di Michele D, Bolton-Maggs P, et al. Classification of rare bleeding disorders (RBDs) based on the association between coagulant factor activity and clinical bleeding severity. J Thromb Haemost. 2012;10(9):1938–1943.
4. Dorgalaleh A, Naderi M, Hosseini MS, et al., editors. Factor XIII deficiency in Iran: a comprehensive review of the literature. Seminars in thrombosis and hemostasis; 2015;41(3):323–329.
5. Peyvandi F , Palla R, et al.,Coagulation factor activity and clinical bleeding severity in rare bleeding disorders: results from the European Network of Rare Bleeding Disorders. J Thromb Haemost. 2012;10: 615– 621.
6. Lancellotti S, Basso M, De Cristofaro R. Congenital prothrombin deficiency: an update. Semin Thromb Hemost. 2013;39(06):596–606.
7. Huang J, Koerper M. Factor V deficiency: a concise review. Haemophilia.2008;14(6):1164–9.
8. Mariani G, Bernardi F. Factor VII deficiency. Semin Thromb Hemost. 2009; 35(4):400–6.
9. Karimi M, Cairo A, Safarpour MM, Haghpanah S, Ekramzadeh M, Afrasiabi A, et al. Genotype and phenotype report on patients with combined deficiency of factor V and factor VIII in Iran. Blood Coagul Fibrinolysis. 2014;25(4):360–3.
10. Gomez K, Bolton-Maggs P. Factor XI deficiency. Haemophilia.2008;14(6): 1183–9.
11. Kitchen S, McCraw A, Echenagucia M. Diagnosis of hemophilia and other bleeding disorders. A laboratory manual World Federation of Hemophilia. 2000: 53–56.
12. Hayward CP, Moffat K. Laboratory testing for bleeding disorders: strategic uses of high and low-yield tests. Int J Lab Hematol. 2013;35(3):322–333.
13. Smith NL, Chen MH, Dehghan A, et al. Novel associations of multiple genetic loci with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. Circulation. 2010;121(12):1382- 1392.
14. Carcao M. Inherited Platelet Function Disorders. Hematology Am Soc Hematol Educ Program. 2011;2011:381-386.
15. Giansily-Blaizot M, Verdier R, Biron-Adréani C, et al. Intracranial haemorrhages in rare bleeding disorders: results from the FranceCoag registry. Haemophilia. 2013;19(1):e1-e4.
16. Lak M, Peyvandi F, Mannucci PM. Clinical manifestations and complications of childbirth and replacement therapy in 385 Iranian patients with type 3 von Willebrand disease. Br J Haematol. 1999;107(2):379-386.
17. Mansouritorghabeh H, Manavifar L, Banihashem A, et al. An investigation of the spectrum of common and rare inherited coagulation disorders in north-eastern Iran. Blood Transfus 2013;11:233-40.
18. Farjami A, Haghpanah S, Arasteh P, et al. Epidemiology of hereditary coagulation bleeding disorders: a 15-year experience from Southern Iran. Hospital Practices and Research 2017;2: 113-7.
19. Sharma SK, Kumar S, Seth T, et al. Clinical profile of patients with rare inherited coagulation disorders: a retrospective analysis of 67 patients from northern India. Mediterr J Hematol Infect Dis 2012;4:e2012057.
20. Fışgın T, Balkan C, Celkan T, et al. Rare coagulation disorders: a retrospective analysis of 156 patients in Turkey. Turk J Haematol 2012;29:48-54.
21. Jaouad IC, Elalaoui SC, Sbiti A, Elkerh F, Belmahi L, Sefiani A. Consanguineous marriages in Morocco and the consequence for the incidence of autosomal recessive disorders. J Biosoc Sci 2009;41:575-81.
22. Şalcıoğlu Z, Bayram C, Şen H, et al. Congenital factor deficiencies in children: a report of a single-center experience. Clin Appl Thromb Hemost 2018;24:901-7.
23. Castaman G, Eikenboom JCJ, Bertina RM, Reitsma PH. Factor V Leiden and related FV mutations: risk factors for venous thromboembolism in plasma protein S deficiency. Arterioscler Thromb Vasc Biol. 1997;17(9):1533-1537.
24. Eikenboom JC, Castaman G, Vos HL, Bertina RM, Rodeghiero F, Reitsma PH. Characterization of six missense mutations in the type IIB von Willebrand disease (VWD) phenotype. Thromb Haemost. 1999;81(2):294-301.
25. Srivastava A, Brewer AK, Mauser-Bunschoten EP, et al. Guidelines for the management of hemophilia. Haemophilia. 2013;19(1):e1-e47.
26. Peyvandi F, Mannucci PM, Garagiola I, et al. A randomized trial of factor VIII and neutralizing antibodies in hemophilia A. N Engl J Med. 2016;374(21):2054-2064.
27. Makris M, Preston FE, Higson NA, et al. Epidemiology of factor VII deficiency in the UK. Br J Haematol. 1999;105(1):111-116.
28. Kadir RA, Economides DL, Sabin CA, Owens D, Lee CA. Variations in coagulation factors in women: effects of age, ethnicity, menstrual cycle and combined oral contraceptive. Thromb Haemost. 1999;82(5):1456- 1461.