A study of clinical characteristics and factor assays of 100 cases of Hemophilia in Bihar, India
STATUS OF HEMOPHILIA PATIENTS IN BIHAR
DOI:
https://doi.org/10.7439/ijbar.v9i11.4943Abstract
Background: The common bleeding disorder, hemophilia, is an X-linked genetic disorder characterized by a deficiency or absence of factor VIII (FVIII) (hemophilia A or classic hemophilia) or factor IX (FIX) (hemophilia B or Christmas disease. They are typically inherited from mother through anX chromosomewith a defective gene. Materials and method: This study was conducted in the departments of pathology of Medical Colleges and Hemophilia Superspeciality Hospital of Bihar, India, during the period of August 2017 to August 2018. Clinical parameters and factor assay result along with APTT values were systematically recorded. Result: 81% patients had hemopilia A and 19 % patients had hemophilia B, ratio was 4.2:1. As per severity of hemophilia A, 20%, 62% and 18% were respectively mild, moderate and severe type. Severity of hemophilia was inversely proportional to level of factor assay. Hemophilia A was clinically more severe than hemophilia B for same level of factor. Discussion and Conclusion : 54% patients presented with symptoms in the age group of 0-10 years and 1% in 55-65 years age group in this study. Mildly severe hemophilia presents in older age group. Recurrent joint swelling was the predominant clinical finding followed by wound bleeding in this study. Hemophilia is major health problem in Bihar, India that has got huge financial and social significance Provision of proper treatment and physiotherapy is needed at hemophilia treatment centres to prevent disability and disfigurement.Downloads
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References
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Pierce GF, Lusher JM, Brownstein SP, Goldsmith JC, Kessler CM. The use of purified clotting factor concentrates in hemophilia: influence of viral safety, cost, and supply on therapy. JAMA 1989; 261: 3434.
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Lowe GD. "Haemophilia, blood products and HIV infection". Scott Med J. 1987; 32 (4): 109–11. Doi: 10.1177/003693308703200404.
Antonarakis SE, Youssoufian H, Kazazian HH Jr. Molecular genetics of hemophilia A in man (factor VIII deficiency). Mol Biol Med 1987; 4: 81–94.
Levine PH. Efficacy of self-therapy in hemophilia: A study of 72 patients with hemophilia A and B. N Engl J Med 1974; 291:1381–4.
Aledort LM. Lessons from hemophilia. N Engl J Med 1982; 306:607–609.
Brettler DB, Levine PH. Factor concentrates for treatment of hemophilia: which one to choose? Blood 1989; 73: 2067–73.
Wood WI, Capon DJ, Simonsen CC, et al. Expression of active human factor VIII from recombinant DNA clones. Nature 1984; 312: 330–7.
Toole JJ, Knopf JL, Wozney JM, et al. Molecular cloning of a cDNA encoding human antihaemophilic factor. Nature 1984; 312:342–7.
White GC II, McMillan CW, Kingdon HS, Shoemaker CB. Use of recombinant antihemophilic factor in the treatment of two patients with classic hemophilia. N Engl J Med 1989; 320:166–70.
Kar A, Phadnis S, Dharmarajan S, Nakade J. Epidemiology & social costs of haemophilia in India. Indian J Med Res. 2014; 140(1):19-31.
Kasper CK, Aledort LM, Counts RB, et al. A more uniform measurement of factor VIII inhibitors. Thromb Diath Haemorrh 1975; 34:869–72.
Hoyer LW. Hemophilia A. N Engl J Med. 1994 Jan 6; 330(1):38-47.
Messori A, Longo G, Matucci M, Morfini M, Ferrini PL. Clinical pharmacokinetics of factor VIII in patients with classic haemophilia. Clin Pharmacokinet 1987; 13:365–80.
Esmon PC, Kuo HS, Fournel MA. Characterization of recombinant factor VIII and a recombinant factor VIII deletion mutant using rabbit immunogenicity model system. Blood 1990; 76:1593–60.
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Mannucci PM. Hemophilia: treatment options in twenty-first century: Journal of Hemostasis and thrombosis 2003; 1(17):1349-1355.
Pier Mannuccio Mannucci, Maria Elisa Mancuso and Elena Santagostino. How we choose factor VIII to treat hemophilia: Blood 2012; 119:4108-411. doi: https://doi.org/10.1182/blood-2012-01-394411
Johannes Oldenburg. Optimal treatment strategies for hemophilia: achievements and limitations of current prophylactic regimens: Blood 2015: blood-2015-01-528414; doi: https://doi.org/10.1182/blood-2015-01-528414
Manco-Johnson ML, Funk S, Jacobson L, Valentino LA, et al (2007). "Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia". N. Engl. J. Med. 357 (6): 535–544. Doi: 10.1056/NEJMoa067659.
A. Srivastava, A. K. Brewer et al. A. WHF Guidelines for the management of hemophilia. Haemophilia, (2013)19, e1-e47; https://doi.org/10.1111/j.1365-2516.2012.02909.
Carcao MD. The diagnosis and management of congenital hemophilia. Semin Thromb Hemost. 2012 Oct; 38(7):727-34. doi: 10.1055/s-0032-1326786.
Forbes CD, Madhok R. Genetic disorders of blood coagulation. In: Haemostasis and Thrombosis, second edition. Philadelphia: WB Saunders Company, 1991.
GC 2d White and CB Shoemaker. Factor VIII gene and hemophilia A: Blood 1989 73:1-12.
Ramgren O. A clinical and medicosocial study of haemophilia in Sweden. J Intern Med 1982; 171: 759.
Gaffney PJ, Thomas DP. Haemostasis and Thrombosis. Am J Clin Path 1997; 69: 299-359.
Pierce GF, Lusher JM, Brownstein SP, Goldsmith JC, Kessler CM. The use of purified clotting factor concentrates in hemophilia: influence of viral safety, cost, and supply on therapy. JAMA 1989; 261: 3434.
Gill FM. The natural history of factor VIII inhibitors in patients with hemophilia A. In: Hoyer LW, ed. Factor VIII inhibitors. Vol. 150 of Progress in clinical and biological research. New York: Alan R. Liss, 1985:19–29.
Van den Berg HM. "A Cure for Hemophilia within Reach". N. Engl. J. Med. 2017; 377 (26): 2592–2593. Doi: 10.1056/NEJMe1713888.
Lowe GD. "Haemophilia, blood products and HIV infection". Scott Med J. 1987; 32 (4): 109–11. Doi: 10.1177/003693308703200404.
Antonarakis SE, Youssoufian H, Kazazian HH Jr. Molecular genetics of hemophilia A in man (factor VIII deficiency). Mol Biol Med 1987; 4: 81–94.
Levine PH. Efficacy of self-therapy in hemophilia: A study of 72 patients with hemophilia A and B. N Engl J Med 1974; 291:1381–4.
Aledort LM. Lessons from hemophilia. N Engl J Med 1982; 306:607–609.
Brettler DB, Levine PH. Factor concentrates for treatment of hemophilia: which one to choose? Blood 1989; 73: 2067–73.
Wood WI, Capon DJ, Simonsen CC, et al. Expression of active human factor VIII from recombinant DNA clones. Nature 1984; 312: 330–7.
Toole JJ, Knopf JL, Wozney JM, et al. Molecular cloning of a cDNA encoding human antihaemophilic factor. Nature 1984; 312:342–7.
White GC II, McMillan CW, Kingdon HS, Shoemaker CB. Use of recombinant antihemophilic factor in the treatment of two patients with classic hemophilia. N Engl J Med 1989; 320:166–70.
Kar A, Phadnis S, Dharmarajan S, Nakade J. Epidemiology & social costs of haemophilia in India. Indian J Med Res. 2014; 140(1):19-31.
Kasper CK, Aledort LM, Counts RB, et al. A more uniform measurement of factor VIII inhibitors. Thromb Diath Haemorrh 1975; 34:869–72.
Hoyer LW. Hemophilia A. N Engl J Med. 1994 Jan 6; 330(1):38-47.
Messori A, Longo G, Matucci M, Morfini M, Ferrini PL. Clinical pharmacokinetics of factor VIII in patients with classic haemophilia. Clin Pharmacokinet 1987; 13:365–80.
Esmon PC, Kuo HS, Fournel MA. Characterization of recombinant factor VIII and a recombinant factor VIII deletion mutant using rabbit immunogenicity model system. Blood 1990; 76:1593–60.
Berntorp E, Shapiro AD. Modern haemophilia care. Lancet 2012; 379: 1447-56.
World Federation of Hemophilia (WFH). Report on the Annual Global Survey 2010. Canada: WFH, 2011. Available from: http://www.wfh.org/en/page.aspx?pid=492, accessed on May 9, 2013
Haya S,Moret A et al. Inhibitors in haemophilia A: current management and open issues. Haemophilia 2007; 13(5):52-60.
Mannucci PM. Hemophilia: treatment options in twenty-first century: Journal of Hemostasis and thrombosis 2003; 1(17):1349-1355.
Pier Mannuccio Mannucci, Maria Elisa Mancuso and Elena Santagostino. How we choose factor VIII to treat hemophilia: Blood 2012; 119:4108-411. doi: https://doi.org/10.1182/blood-2012-01-394411
Johannes Oldenburg. Optimal treatment strategies for hemophilia: achievements and limitations of current prophylactic regimens: Blood 2015: blood-2015-01-528414; doi: https://doi.org/10.1182/blood-2015-01-528414
Manco-Johnson ML, Funk S, Jacobson L, Valentino LA, et al (2007). "Prophylaxis versus episodic treatment to prevent joint disease in boys with severe hemophilia". N. Engl. J. Med. 357 (6): 535–544. Doi: 10.1056/NEJMoa067659.
A. Srivastava, A. K. Brewer et al. A. WHF Guidelines for the management of hemophilia. Haemophilia, (2013)19, e1-e47; https://doi.org/10.1111/j.1365-2516.2012.02909.
Carcao MD. The diagnosis and management of congenital hemophilia. Semin Thromb Hemost. 2012 Oct; 38(7):727-34. doi: 10.1055/s-0032-1326786.
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2018-11-24
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A study of clinical characteristics and factor assays of 100 cases of Hemophilia in Bihar, India: STATUS OF HEMOPHILIA PATIENTS IN BIHAR. Int J of Biomed & Adv Res [Internet]. 2018 Nov. 24 [cited 2024 Oct. 18];9(11):367-70. Available from: https://ssjournals.co.in/index.php/ijbar/article/view/4943