Literature DB >> 24426348

Factor v deficiency associated with congenital cardiac disorder and intracranial hemorrage.

Halit Ozkaya1, A Barıs Akcan1, Gökhan Aydemir1, Mediha Akcan2, Mustafa Kul1.   

Abstract

Factor V deficiency is an inherited disorder, in which the clotting factor V is low. The disorder is very rare, occurring in only one in one million people. It is inherited as an autosomal recessive disorder. The results of coagulation studies include a prolonged prothrombin time and partial thromboplastin time associated with reduced plasma factor V content. Patients with factor V deficiency have a hemophiliac like hemorrhagic disorder. Epistaxis, bruising, and menorrhagia are some of the common features. If treatment is needed, fresh frozen plasma is typically given. In this report we present a 12 year old girl who was admitted to our clinic with recurrent nosebleeds and intracranial hemorrage after head trauma. After examination, factor V deficiency was diagnosed. She also had congenital cardiac disorder (VSD), probably a co-incidental finding.

Entities:  

Keywords:  Bleeding disorder; Factor V deficiency; İntracranial hemorrage

Year:  2012        PMID: 24426348      PMCID: PMC3636347          DOI: 10.1007/s12288-012-0149-8

Source DB:  PubMed          Journal:  Indian J Hematol Blood Transfus        ISSN: 0971-4502            Impact factor:   0.900


  13 in total

1.  Severe factor V deficiency and neonatal intracranial haemorrhage: a case report.

Authors:  N Salooja; P Martin; K Khair; R Liesner; I Hann
Journal:  Haemophilia       Date:  2000-01       Impact factor: 4.287

2.  Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency.

Authors:  R van Wijk; K Nieuwenhuis; M van den Berg; E G Huizinga; B B van der Meijden; R J Kraaijenhagen; W W van Solinge
Journal:  Blood       Date:  2001-07-15       Impact factor: 22.113

Review 3.  The rare coagulation disorders--review with guidelines for management from the United Kingdom Haemophilia Centre Doctors' Organisation.

Authors:  P H B Bolton-Maggs; D J Perry; E A Chalmers; L A Parapia; J T Wilde; M D Williams; P W Collins; S Kitchen; G Dolan; A D Mumford
Journal:  Haemophilia       Date:  2004-09       Impact factor: 4.287

4.  Parahaemophilia; haemorrhagic diathesis due to absence of a previously unknown clotting factor.

Authors:  P A OWREN
Journal:  Lancet       Date:  1947-04-05       Impact factor: 79.321

5.  A novel two base pair deletion in the factor V gene associated with severe factor V deficiency.

Authors:  M C Montefusco; S Duga; R Asselta; E Santagostino; G Mancuso; M Malcovati; P M Mannucci; M L Tenchini
Journal:  Br J Haematol       Date:  2000-12       Impact factor: 6.998

Review 6.  Factor V Leiden and hemophilia.

Authors:  Massimo Franchini; Giuseppe Lippi
Journal:  Thromb Res       Date:  2009-11-22       Impact factor: 3.944

7.  Severe factor V deficiency presenting as subdural haematoma in the newborn.

Authors:  S Ehrenforth; D Klarmann; B Zabel; I Scharrer; W Kreuz
Journal:  Eur J Pediatr       Date:  1998-12       Impact factor: 3.183

8.  Synergistic cofactor function of factor V and protein S to activated protein C in the inactivation of the factor VIIIa - factor IXa complex -- species specific interactions of components of the protein C anticoagulant system.

Authors:  L Shen; X He; B Dahlbäck
Journal:  Thromb Haemost       Date:  1997-09       Impact factor: 5.249

Review 9.  Factor V deficiency.

Authors:  Rosanna Asselta; Flora Peyvandi
Journal:  Semin Thromb Hemost       Date:  2009-07-13       Impact factor: 4.180

Review 10.  Factor V deficiency: a concise review.

Authors:  J N Huang; M A Koerper
Journal:  Haemophilia       Date:  2008-11       Impact factor: 4.287

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  1 in total

1.  A Novel Phenotype of the Factor 5 Gene Mutation (Homozygote Met1736Val and Heterozygote Asp68His) Is Associated With Moderate Factor V Deficiency.

Authors:  Yueh-Shih Chang; Yi-Cheng Lan; Ya-Jyun Chen; Jen-Seng Huang; Chia-Ning Yang; Chi-Ying F Huang; Kun-Yun Yeh
Journal:  Front Med (Lausanne)       Date:  2022-06-09
  1 in total

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