Literature DB >> 816163

Combined congenital deficiency of factor V and factor VIII. Report of a further case with some considerations on the hetereditary transmission of this disorder.

A Girolami, G Gastaldi, G Patrassi, A Galletti.   

Abstract

A patient with combined factor V and factor VIII deficiency is presented. The bleeding manifestations were mild. The main laboratory feature was a prolonged partial thromboplastin time which was corrected by the addition of adsorbed normal plasma but not by the addition of normal serum, hemophilia A plasma or plasma of another patient with combined factor V and factor VIII deficiency. TGT was also clearly abnormal and was corrected by the addition of adsorbed normal plasma but not by the addition of normal serum. Prothrombin consumption was mildly defective. The prothrombin time was slightly prolonged. Facotr VIII was 12% and factor V 55% of normal. Factor-VIII-associated antigen was normal. The father and a sister of the propositus revealed mild factor V deficiency but normal factor VIII activity and antigen. The parents were not consanguineous. A tentative classification of combined deficiency of factors V and VIII in two groups is proposed. The hereditary transmission of the two types of deficiencies is discussed.

Entities:  

Mesh:

Year:  1976        PMID: 816163     DOI: 10.1159/000208020

Source DB:  PubMed          Journal:  Acta Haematol        ISSN: 0001-5792            Impact factor:   2.195


  6 in total

1.  Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping.

Authors:  W C Nichols; U Seligsohn; A Zivelin; V H Terry; N D Arnold; D R Siemieniak; R J Kaufman; D Ginsburg
Journal:  J Clin Invest       Date:  1997-02-15       Impact factor: 14.808

2.  Associated von Willebrand disease as a possible cause of lack of thrombosis in an AT III abnormality (AT III Trento).

Authors:  A Girolami; M G Cappellato; M A Vicarioto; S Casonato; F Marafioti
Journal:  Blut       Date:  1986-01

3.  An immunological investigation of factor VIII associated antigen in combined factor V and factor VIII deficiency.

Authors:  A Girolami; N Borsato; G Patrassi; A Sticchi
Journal:  Blut       Date:  1976-08

4.  Hemophilia B with associated factor VII deficiency: a distinct variant of hemophilia B with low factor VII activity and normal factor VII antigen.

Authors:  A Girolami; R Dal Bo Zanon; L De Marco; G Cappellato
Journal:  Blut       Date:  1980-04

5.  Combined deficiency of factor V and factor VIII. A report of another case.

Authors:  A Girolami; N Violante; G Cella; G Patrassi
Journal:  Blut       Date:  1976-06

6.  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

  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.