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Thrombin generation in haemophilia A patients with mutations causing factor VIII assay discrepancy.
Haemophilia. 2010 Jul 01; 16(4):671-4.H

Abstract

Up to 40% of patients with mild haemophilia A have a discrepancy whereby factor VIII (FVIII) measurements by a two-stage chromogenic assay (FVIII:C(CH)) are disproportionately reduced compared with the FVIII one-stage clotting value (FVIII:C). Which assay best reflects the coagulation potential and clinical phenotype in this patient group is of clinical significance, yet remains unclear. We have assessed the global coagulant ability of haemophilia patients with FVIII assay discrepancy using calibrated automated thrombography (CAT). A total of 18 patients with mutations Arg531His/Cys or Arg698Trp causing FVIII discrepancy were investigated, together with 12 haemophilia patients with concordant FVIII values and 15 normal controls. Factor VIII levels in all patients and controls were measured using both one-stage clotting assay and two-stage chromogenic assay. Thrombin generation was assessed in platelet-poor plasma by CAT using a low tissue factor concentration (1 pm). FVIII:C(CH) values were below normal in all patients, and in the discrepant group were between 1.5- and 8-fold lower than FVIII:C values. CAT parameters were affected in all haemophilia patients. The endogenous thrombin potential (ETP) was reduced to 58-67% of the mean normal value (1301 nm min(-1)), whereas peak thrombin was further reduced to 27-30% of the mean normal value (178 nm) in both discrepant and concordant patient groups. Analysis of the discrepant patient group showed the most significant correlation between the one-stage FVIII:C assay and ETP (r(2) = 0.44) and peak thrombin parameters (r(2) = 0.27).

Authors+Show Affiliations

Haemostasis Research Group, Institute of Molecular Medicine, Trinity Centre for Health Sciences, St James's Hospital, Dublin, Ireland.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

20148980

Citation

Gilmore, R, et al. "Thrombin Generation in Haemophilia a Patients With Mutations Causing Factor VIII Assay Discrepancy." Haemophilia : the Official Journal of the World Federation of Hemophilia, vol. 16, no. 4, 2010, pp. 671-4.
Gilmore R, Harmon S, Gannon C, et al. Thrombin generation in haemophilia A patients with mutations causing factor VIII assay discrepancy. Haemophilia. 2010;16(4):671-4.
Gilmore, R., Harmon, S., Gannon, C., Byrne, M., O'Donnell, J. S., & Jenkins, P. V. (2010). Thrombin generation in haemophilia A patients with mutations causing factor VIII assay discrepancy. Haemophilia : the Official Journal of the World Federation of Hemophilia, 16(4), 671-4. https://doi.org/10.1111/j.1365-2516.2009.02190.x
Gilmore R, et al. Thrombin Generation in Haemophilia a Patients With Mutations Causing Factor VIII Assay Discrepancy. Haemophilia. 2010 Jul 1;16(4):671-4. PubMed PMID: 20148980.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Thrombin generation in haemophilia A patients with mutations causing factor VIII assay discrepancy. AU - Gilmore,R, AU - Harmon,S, AU - Gannon,C, AU - Byrne,M, AU - O'Donnell,J S, AU - Jenkins,P V, Y1 - 2010/02/09/ PY - 2010/2/13/entrez PY - 2010/2/13/pubmed PY - 2011/1/6/medline SP - 671 EP - 4 JF - Haemophilia : the official journal of the World Federation of Hemophilia JO - Haemophilia VL - 16 IS - 4 N2 - Up to 40% of patients with mild haemophilia A have a discrepancy whereby factor VIII (FVIII) measurements by a two-stage chromogenic assay (FVIII:C(CH)) are disproportionately reduced compared with the FVIII one-stage clotting value (FVIII:C). Which assay best reflects the coagulation potential and clinical phenotype in this patient group is of clinical significance, yet remains unclear. We have assessed the global coagulant ability of haemophilia patients with FVIII assay discrepancy using calibrated automated thrombography (CAT). A total of 18 patients with mutations Arg531His/Cys or Arg698Trp causing FVIII discrepancy were investigated, together with 12 haemophilia patients with concordant FVIII values and 15 normal controls. Factor VIII levels in all patients and controls were measured using both one-stage clotting assay and two-stage chromogenic assay. Thrombin generation was assessed in platelet-poor plasma by CAT using a low tissue factor concentration (1 pm). FVIII:C(CH) values were below normal in all patients, and in the discrepant group were between 1.5- and 8-fold lower than FVIII:C values. CAT parameters were affected in all haemophilia patients. The endogenous thrombin potential (ETP) was reduced to 58-67% of the mean normal value (1301 nm min(-1)), whereas peak thrombin was further reduced to 27-30% of the mean normal value (178 nm) in both discrepant and concordant patient groups. Analysis of the discrepant patient group showed the most significant correlation between the one-stage FVIII:C assay and ETP (r(2) = 0.44) and peak thrombin parameters (r(2) = 0.27). SN - 1365-2516 UR - https://www.unboundmedicine.com/medline/citation/20148980/Thrombin_generation_in_haemophilia_A_patients_with_mutations_causing_factor_VIII_assay_discrepancy_ L2 - https://doi.org/10.1111/j.1365-2516.2009.02190.x DB - PRIME DP - Unbound Medicine ER -