FACTOR VII DEFICIENCY, A RARE BLEEDING DISORDER: CASE REPORT

Authors

  • Atta Muhammad Khan
  • Momnah Momnah
  • Anum Anum
  • Zafar Ali Khan
  • Muhammad Bakhtiar

Abstract

Factor VII deficiency is one of the rare bleeding disorder first described in 1954 by Dr. Alaxender. Prevalence of Factor VII deficiency is 1 in 500,000 making it one of the most frequent rare bleeding disorders. Factor VII is vitamin K dependent glycoprotein consisting of almost 408 amino acids with molecular weight of 45-50 kDA. Gene encoding for Factor VII lies on the long arm of chromosome 13. It is inherited as autosomal recessive disorder therefore more cases are encountered in regions where consanguineous marriages are practiced. Study done in Pakistan revealed that 92% of Factor VII deficient children parents were consanguineously married.

References

Alam MM, Moiz B, Rehman KA, Jethwani P, Fadoo Z. Congenital factor VII deficiency in children at tertiary health carefacility in Pakistan. Clinical and Applied thrombosis/ Hemostasis 2015; 21 (7): 639-644.

de Moerloose P, Schved JF, Nugent D. Rare coagulation disorders: fibrinogen, factor VII and factor XIII. Haemophilia 2016; 22 (5): 61-65.

Perry DJ. Factor VII deficiency. Br J Haematol 2002; 118 (3): 689-700.

Arshi N, Jamal MY, Amanat S, Din ujjan I, Najmuddin A, Patel H, Raziq F, Ahmed N, Imran A, Shamsi TS. Autosomal recessive inherited bleeding disorders in Pakistan: A cross-sectional study from selected regions. Orphanet Journal of Rare Diseases 2017; 12: 66.

Mariani G, Hermann FH, Dolce A, Batorova A. Clinical Phenotypes and factor VII genotype in congenital factor VII deficiency 2005. Throm Haemost; 93 (3): 481-487.

Napotilano N, Siragusa S, Mariani G. Factor VII deficiency: Clinical phenotype, genotype and therapy. J. Clin. Med 2017;6 (4):38.

Zaidi SMA, Qureshi RN, Adil SN. Factor VII deficiency and pregnancy: A case report and review of literature. J Pak Med Assoc 2010; 60 (2): 136-138.

Mariani G, Hermann FH, Schulman S, Batorova A, Wollff K, Etro D, Dolce A, Auerswald G, Astermark J, Schved F, Ingerslev J, Bernardi F. Thrombosis in inherited factor VII deficiency. J Thromb Haema 2003; 1: 2153-8.

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Published

11/19/2020