Literature DB >> 11012693

Combined factor V and VIII deficiency in Indian population.

S Shetty1, M Madkaikar, S Nair, A Pawar, S Baindur, A Pathare, K Ghosh, D Mohanty.   

Abstract

The clinical and haematological heterogeneity in cases of the rare combined factor V and VIII deficiency has not been reported so far from India. Nine such cases belonging to five unrelated families have been analysed in the present study for the various haematological and clinical parameters. A very mild clinical presentation is seen in all these cases. The clinical manifestations, however, do not correlate with the plasma levels of these factors.

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Year:  2000        PMID: 11012693     DOI: 10.1046/j.1365-2516.2000.00421.x

Source DB:  PubMed          Journal:  Haemophilia        ISSN: 1351-8216            Impact factor:   4.287


  5 in total

1.  Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2.

Authors:  Bin Zhang; Beth McGee; Jennifer S Yamaoka; Hugo Guglielmone; Katharine A Downes; Salvador Minoldo; Gustavo Jarchum; Flora Peyvandi; Norma B de Bosch; Arlette Ruiz-Saez; Bernard Chatelain; Marian Olpinski; Paula Bockenstedt; Wolfgang Sperl; Randal J Kaufman; William C Nichols; Edward G D Tuddenham; David Ginsburg
Journal:  Blood       Date:  2005-11-22       Impact factor: 22.113

2.  Genotype-phenotype correlation in combined deficiency of factor V and factor VIII.

Authors:  Bin Zhang; Marta Spreafico; Chunlei Zheng; Angela Yang; Petra Platzer; Michael U Callaghan; Zekai Avci; Namik Ozbek; Johnny Mahlangu; Tabitha Haw; Randal J Kaufman; Kandice Marchant; Edward G D Tuddenham; Uri Seligsohn; Flora Peyvandi; David Ginsburg
Journal:  Blood       Date:  2008-04-07       Impact factor: 22.113

Review 3.  The COPII pathway and hematologic disease.

Authors:  Rami Khoriaty; Matthew P Vasievich; David Ginsburg
Journal:  Blood       Date:  2012-05-14       Impact factor: 22.113

4.  Clinical manifestations of combined factor V and VIII deficiency: a series of 37 cases from a single center in India.

Authors:  Auro Viswabandya; Shoma Baidya; Sukesh C Nair; Kavitha M Lakshmi; Vikram Mathews; Biju George; Mammen Chandy; Alok Srivastava
Journal:  Am J Hematol       Date:  2010-07       Impact factor: 10.047

5.  Clinical profile of patients with rare inherited coagulation disorders: a retrospective analysis of 67 patients from northern India.

Authors:  Sanjeev Kumar Sharma; Suman Kumar; Tulika Seth; Pravas Mishra; Narendra Agrawal; Gurmeet Singh; Avinash Kumar Singh; Manoranjan Mahapatra; Seema Tyagi; Haraprasad Pati; Renu Saxena
Journal:  Mediterr J Hematol Infect Dis       Date:  2012-10-02       Impact factor: 2.576

  5 in total

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