FACTOR X DEFICIENCY IN NORTH PAKISTAN
AbstractBackground: Factor X deficiency is one of the most rare hereditary coagulation disorders. In populations where rate of consanguineous marriages is high, rare hereditary disorders also flourish. Pakistan is one of those countries. The study was conducted to estimate the incidence of factor X deficiency in patients with bleeding disorders in North Pakistan. Methods: The records of the patients referred to Armed Forces Institute of Pathology for investigations of a suspected bleeding disorder were reviewed from 1st January 1997 to 30th June 2002. All patients referred for the investigations of a suspected bleeding disorder were included in the study. All patients underwent clinical interview and examination at the department. Factor X deficiency was diagnosed on the basis of prolonged prothrombin time and prolonged partial thromboplastin time with kaolin, which were corrected by addition of aged serum but not with adsorbed plasma. Factor X assays were carried out where possible. Results: Only 24 patients of factor X deficiency were detected in 571 patients presenting with coagulation disorder. In 4 cases deficiency was thought to be secondary history, clinical findings and lab results. Inherited deficiency of factor X was thus detected in only 20/571 (3.5%) of the patients. Family history was positive in 8/20 (40%) patients. Consanguinity was noted in 12/20 (60%) patients. Median age of patients was 3 years. Male and females were in equal numbers. Most common clinical presentations were prolonged bleeding after trauma and mucosal bleeding seen in 80% and 70% of patients respectively. In patients in whom factor X assay was performed only one had <1% levels. Conclusion: Factor X deficiency although rare in American and European populations is not that rare in this part of the world. Its existence should be kept in mind in patients presenting with mucosal bleeding and prolonged PT and PTTK but normal platelet count and TT. The mutations in factor X, in this part of the world are most probably not the one, which would cause a severe bleeding diathesis.Keywords: Haemophilia, Factor X deficiency, Consanguinity, Inherited coagulopathy
Peuscher FW, van Aken WG, von Mourik JA, Swaak AJ, Sie LH, van Eps SLW. Acquired transient factor X (Stuart factor) deficiency in a patient with Mycoplasma pneumonial infection. Scand J haematol 1979; 23(4):257-64.
Uprichard J, Perry DJ. Factor X deficiency. Blood Rev 2002; 16(2):97-110.
Hertzberg M. Biochemistry of factor X. Blood Rev 1994; 8(1):56-62.
Saligsohn U, White GC. Inherited deficiencies of coagulation factors II, V, VII, XI and XIII and the combined deficiencies of Factors V and VIII and of the Vitamin K dependent factors. In: Beutler E, Lichtman MA, Coller BS, Kipps TJ, Seligsohn U (editors) Williams Hematology (6th edition, International Edition).McGraw-Hill Medical Publishing Division. New York 2001. P 1617-38.
Peyvandi F, Menegatti M, Santagostino E, Akhavan S, Uprichard J, Perry DJ, et al. Gene mutations and three-dimensional structural analyses in 13 families with severe factor X deficiency. Br J Haematol 2002; 117(3):685-92.
Bohler A, Lammle B. Decreased Quick percentage, acquired factor X deficiency, haemarthrosis and ecchymosis; amyloidosis. Ther Umsch 1999; 56(9):523-5.
Kouides PA, Kulzer L. Prophylactic treatment of severe factor X deficiency with prothrombin complex concentrate. Haemophilia 2001; 7(2):220-3.
Bajaj SP, Joist NH. New insights into how blood clots: implications for the use of APTT and PT as coagulation screening tests and in monitoring of anticoagulant therapy. Semin Thromb Hemost 1999; 25(4):407-18.
Sultana N, Tahir N, Ahmed TA, Khan DA. Anti Paternal Leukocyte antibodies (APA) in patients with Recurrent Spontaneous Abortion (RSA). Pak Armed Forces Med J 1997; 47(2):45-7.
Laffan MA, Manning RA. Investigations of Haemostasis. In Lewis SM, Bain BJ, Bates I (Ed) Dacie and Lewis Practical Haematology (9th Ed). Churchill Livingstone, London 2001. p339-390.
Tefler TP, Denson KW, Wright DW. A “new” coagulation defect. Br J Haematol 1956; 2:308-10.
Karimi M, Yarmuhammadi H, Ardeshiri R, Yarmohammadi H. Inherited coagulation disorders in southern Iran. Haemophilia 2002; 8(6):740-5.
Kashyap R, Saxena R, Choudhry VP. Rare inherited coagulation disorders in India. Haematologia (Budap) 1996; 28(1):13-19.
Saxena R, Gupta M, Gupta PK, Kashyap R, Choudhry VP, Bhargava M. Inherited bleeding disorders in India in women with menorrhagia. Haemophilia 2003; 9(2):193-6.
Peyvandi F, Menegatti M, Santagostino E, Akhavan S, Uprichard J, Perry DJ et al. Gene mutations and three dimensional structural analyses in 13 families with severe Factor X deficiency. Br J Haematol 2002; 117(3):685-92.
Au WY, Lam CC, Cheung WC, Kwong YL. Two novel factor X gene mutations in a Chinese family with factor X deficiency. Ann Hematol 2004; 83(5):304-6.
Pinotti M, Camire RM, Baroni M, Rajab A, Maechetti G, Bernardi F. Impaired prothrombinase activity of factor X Gly381Asp results in severe familial CRM+ FX deficiency. Thromb Haemost 2003; 89(2):243-8.
Camire R, Ann Denchy R, Day GA 3rd, Lanzano P, Sheth S, Brown S. Prenatal diagnosis of factor X deficiency using a combination of direct mutation detection and linkage analyses with an intragenic single nucleotide polymorphism. Prenat Diag 2003; 23(6):457-60
Journal of Ayub Medical College, Abbottabad is an OPEN ACCESS JOURNAL which means that all content is FREELY available without charge to all users whether registered with the journal or not. The work published by J Ayub Med Coll Abbottabad is licensed and distributed under the creative commons License CC BY ND Attribution-NoDerivs. Material printed in this journal is OPEN to access, and are FREE for use in academic and research work with proper citation. J Ayub Med Coll Abbottabad accepts only original material for publication with the understanding that except for abstracts, no part of the data has been published or will be submitted for publication elsewhere before appearing in J Ayub Med Coll Abbottabad. The Editorial Board of J Ayub Med Coll Abbottabad makes every effort to ensure the accuracy and authenticity of material printed in J Ayub Med Coll Abbottabad. However, conclusions and statements expressed are views of the authors and do not reflect the opinion/policy of J Ayub Med Coll Abbottabad or the Editorial Board.
USERS are allowed to read, download, copy, distribute, print, search, or link to the full texts of the articles, or use them for any other lawful purpose, without asking prior permission from the publisher or the author. This is in accordance with the BOAI definition of open access.
AUTHORS retain the rights of free downloading/unlimited e-print of full text and sharing/disseminating the article without any restriction, by any means including twitter, scholarly collaboration networks such as ResearchGate, Academia.eu, and social media sites such as Twitter, LinkedIn, Google Scholar and any other professional or academic networking site.