scholarly journals Perioperative replacement therapy for a patient with hereditary factor V deficiency.

1990 ◽  
Vol 10 (3) ◽  
pp. 294-299 ◽  
Author(s):  
Shinya UENO ◽  
Yasuhiro UMEKI ◽  
Hiroko TSUDA ◽  
Shosuke TAKAHASHI ◽  
Junichi YOSHITAKE
Keyword(s):  
Replacement Therapy ◽  
Factor V ◽  
Hereditary Factor ◽  
Factor V Deficiency

First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia

2019 ◽  
Vol 30 (5) ◽  
pp. 224-232
Author(s):  
Nouf S. Al-Numair ◽  
Khushnooda Ramzan ◽  
Mahasen Saleh ◽  
Hazzaa Alzahrani ◽  
Ahmed Tarawah ◽  
...  
Keyword(s):  
Saudi Arabia ◽  
Factor V ◽  
Hereditary Factor ◽  
Factor V Deficiency

A novel homozygous mutation (Gly1715Ser) causing hereditary factor V deficiency in a Chinese patient

2020 ◽  
Vol 31 (1) ◽  
pp. 71-76
Author(s):  
Siqi Liu ◽  
Shasha Luo ◽  
Lihong Yang ◽  
Yanhui Jin ◽  
Haixiao Xie ◽  
...  
Keyword(s):  
Chinese Patient ◽  
Homozygous Mutation ◽  
Factor V ◽  
Hereditary Factor ◽  
Factor V Deficiency

scholarly journals Acquired Inhibitors of Factor V

1977 ◽  
Author(s):  
Donald I. Feinstein
Keyword(s):  
Temporal Relationship ◽  
Major Surgery ◽  
Severe Bleeding ◽  
Factor V ◽  
Inhibitor Activity ◽  
Physiochemical Properties ◽  
Hereditary Factor ◽  
Factor V Deficiency ◽  
Antigenic Material ◽  
Close Temporal Relationship

Twelve patients with an acquired inhibitor of Factor V have been reported thus far in the literature. Of these, only one occurred in a patient with hereditary Factor V deficiency. Six patients received streptomycin in close temporal relationship to the appearance of the inhibitor. Six of the patients had been previously transfused, including four of those who received streptomycin. In nine of the eleven spontaneously occurring inhibitors, major surgery preceded the appearance of the inhibitor. The degree of clinical bleeding in these patients varied. One patient had no bleeding, six patients had mild to moderate bleeding, and four patients had severe bleeding. The inhibitor disappeared in less than eight weeks in seven patients, whereas in one patient it persisted for more than two years. Most of these inhibitors have the physiochemical properties of antibodies. Six of the spontaneous inhibitors appeared to be IgG, whereas in two patients inhibitor activity was found in both IgM and IgG fractions. Three inhibitors have been typed with light chain antisera and all contained both kappa and lambda chains. Plasmas from seven patients with hereditary Factor V deficiency have been tested with three of these inhibitors for inactive factor V antigenic material and none has been detected. In addition, plasma from a patient with hereditary factor V deficiency has been tested with heterologous factor V antibody and no antigenic material has been found. Thus hereditary factor V deficiency probably represents a deficiency of factor V molecules, rather than the synthesis of a defective molecule.

Hereditary factor V deficiency from heterozygous mutations with a novel variant p.Pro798Leufs*13 in the F5 gene

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Yuping Deng ◽  
Jiajin Zhu ◽  
Yuxiang Gong ◽  
Xiaoqing Yi ◽  
Liyan Zhou ◽  
...  
Keyword(s):  
Factor V ◽  
Hereditary Factor ◽  
Factor V Deficiency ◽  
Novel Variant

Significance of the p.Phe218Ser and p.Gly304Glu F5 Variants in Hereditary Factor V Deficiency

2021 ◽  
pp. 1-5
Author(s):  
Rujiao Dong ◽  
Guoliang Chen ◽  
Yanhui Jin ◽  
Mingshan Wang ◽  
Xiaoli Cheng ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Bleeding Disorder ◽  
Sequence Conservation ◽  
The Other ◽  
Homologous Gene ◽  
Factor V ◽  
Hereditary Factor ◽  
Factor V Deficiency

Hereditary factor V (FV) deficiency is a rare autosomal recessive bleeding disorder caused by <i>F5</i> gene mutations. The objective of this study was to investigate the p.Phe218Ser and p.Gly304Glu variants found in 2 families with hereditary FV deficiency. The FV activity (FV:C) and FV antigen (FV:Ag) were measured by clotting and ELISA, respectively. The <i>F5</i> gene and sequence conservation were analyzed by direct sequencing and ClustalX-2.1-win, respectively. One proband carried a homozygous p.Phe218Ser (c.653T&#x3e;C) mutation, with FV:C and FV:Ag decreased to 11 and 14%, respectively. The other proband carried a heterozygous p.Gly304Glu (c.911G&#x3e;A) mutation, with FV:C and FV:Ag reduced to 55 and 62%, respectively. Phe218 and Gly304 were highly conserved in the homologous gene in 9 other species. We hypothesized that the p.Phe218Ser and p.Gly304Glu variants are deleterious and responsible for the reduction in FV:C and FV:Ag.

Solvent–detergent plasma as replacement therapy in a pregnant patient with factor V deficiency

2004 ◽  
Vol 16 (1) ◽  
pp. 69-70 ◽  
Author(s):  
MP O'Connell ◽  
M Eogan ◽  
KM Murphy ◽  
B White ◽  
DP Keane ◽  
...  
Keyword(s):  
Replacement Therapy ◽  
Pregnant Patient ◽  
Factor V ◽  
Factor V Deficiency

Molecular basis of hereditary factor V deficiency in India: Identification of four novel mutations and their genotype-phenotype correlation

2011 ◽  
Vol 105 (06) ◽  
pp. 1120-1123 ◽  
Author(s):  
Aaron Chapla ◽  
Elayaperumal Sumitha ◽  
Govindanattar Sankari Devi ◽  
Paneerselvam Shenbagapriya ◽  
Sukesh Chandran Nair ◽  
...  
Keyword(s):  
Molecular Basis ◽  
Factor V ◽  
Phenotype Correlation ◽  
Novel Mutations ◽  
Hereditary Factor ◽  
Genotype Phenotype Correlation ◽  
Factor V Deficiency

Major Surgery in a Subject with Factor V Deficiency

1971 ◽  
Vol 25 (03) ◽  
pp. 438-446 ◽  
Author(s):  
E. J Melliger ◽  
F Duckert
Keyword(s):  
Intercellular Space ◽  
Correct Diagnosis ◽  
Postoperative Bleeding ◽  
Major Surgery ◽  
Factor V ◽  
Factor V Deficiency ◽  
Disappearance Time ◽  
Fresh Plasma ◽  
One Year

SummaryA further case of parahaemophilia is reported. One year after the correct diagnosis had been made the patient had to undergo cholecystectomy which was performed under prophylactic substitutive treatment with fresh plasma at a factor V level of 31 %. A minimal factor V level of 11 to 12% was maintained throughout the first week after operation. There was no abnormal postoperative bleeding. The half disappearance time of factor V was found to be about 12 h. Infusion of equivalent amounts of fresh plasma supplied a higher yield of factor V in the patient’s plasma before operation than postoperatively what may be explained by an increased diffusion of factor V into the intercellular space resulting from a postoperatively increased capillar permeability. The results are compared with those of other authors.

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