Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype

Trossaërt, Marc; Régnault, V.; Sigaud, Marianne; Boisseau, Pierre; Fressinaud, Édith; Lecompte, T.

doi:10.1111/j.1538-7836.2007.02861.x

Cited by 79 publications

(83 citation statements)

References 22 publications

(35 reference statements)

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“…Data have been published with the CAT method, consistent with a potentially high added value in clinical practice, in settings such as diagnosis and management of bleeding disorders [6][7][8], detection of hypercoagulability [9,10], characterization/monitoring of anticoagulant drugs including non-vitamin K antagonist oral anticoagulants [11,12] or even in acquired complex coagulation disorders [13]. Most of the data come from single-centre studies and must be confirmed in prospective, large, multicentre studies.…”

Section: Introductionmentioning

confidence: 99%

Large external quality assessment survey on thrombin generation with CAT: further evidence for the usefulness of normalisation with an external reference plasma

Perrin

Depasse

Lecompte

et al. 2015

Thrombosis Research

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Calibrated Automated Thrombography (CAT) has been widely used to assess in vitro thrombin generation as an informative intermediary phenotype of coagulation. Interlaboratory exercises have documented a worrisome poor reproducibility. There are some data on the normalisation with an appropriate external reference plasma (RP). This multicentre study of the French-speaking CAT Club aimed at providing further evidence for the usefulness of such a normalisation

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Section: Introductionmentioning

confidence: 99%

Large external quality assessment survey on thrombin generation with CAT: further evidence for the usefulness of normalisation with an external reference plasma

Perrin

Depasse

Lecompte

et al. 2015

Thrombosis Research

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“…In the chromogenic assay, this renders lower FVIII:C activity because of the longer incubation time as compared with that of the onestage assay. Recently, mutations have been described which result in the converse discrepancy [30,31].…”

Section: Chromogenic Assaymentioning

confidence: 99%

Diagnosis of factor VIII deficiency

Verbruggen

Meijer²,

Nováková

2008

Haemophilia

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Summary. The correct diagnosis of factor VIII deficiency and the assessment of severity of the disease are essential for a patient-tailored treatment strategy. An optimal diagnostic procedure comprises sensitive and specific screening methods and factor VIII activity assays. Different screening reagents show variable characteristics and receiver operator characteristic curves are presented showing the relation between sensitivity and specificity of eleven activated partial thromboplastin time reagents. The details of the three methods for factor VIII activity assay, onestage and two-stage assay and chromogenic assays, are discussed. The chromogenic assay seems to be more sensitive than the one-stage assay with regard to the detection of severe haemophilia. Discrepant results obtained with one-stage and two-stage assays are reviewed and discussed.

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“…There have been limited reports of this form of discrepancy since most centers employ the FVIII:C1 assay alone for diagnosis. 4,5,[16][17][18][19] All but two patients in this group had the p.Tyr365Cys change in the F8 gene, a mutation which has not been linked to excessive bleeding. 4,5,18 Thirteen patients with lower one-stage discrepancy (p.Tyr365Cys) in our study had a reduced FVIII:C1 but FVIII:C2 within normal limits meaning the diagnosis was made based only on the onestage method.…”

Section: Non-discrepant Lower Two-stage Lower One-stagementioning

confidence: 99%

Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A

Bowyer¹,

Veen²,

Goodeve

et al. 2013

Haematologica

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The activity of the factor VIII coagulation protein can be measured by three methods: a one or two-stage clotting assay and a chromogenic assay. The factor VIII activity of most individuals with mild hemophilia A is the same regardless of which method is employed. However, approximately 30% of patients show marked discrepancies in factor VIII activity measured with the different methods. The objective of this study was to investigate the incidence of assay discrepancy in our center, assess the impact of alternative reagents on factor VIII activity assays and determine the usefulness of global assays of hemostasis in mild hemophilia A. Factor VIII activity was measured in 84 individuals with mild hemophilia A using different reagents. Assay discrepancy was defined as a two-fold or greater difference between the results of the one-stage and two-stage clotting assays. Rotational thromboelastometry and calibrated automated thrombography were performed. Assay discrepancy was observed in 31% of individuals; 12% with lower activity in the two-stage assay and 19% with lower activity in the one-stage assay. The phenotype could not always be predicted from the individual's genotype. Chromogenic assays were shown to be a suitable alternative to the two-stage clotting assay. Thromboelastometry was found to have poor sensitivity in hemophilia. Calibrated automated thrombography supported the results obtained by the two-stage and chromogenic assays. The current international guidelines do not define the type of assay to be used in the diagnosis of mild hemophilia A and some patients could be misclassified as normal. In our study, 4% of patients would not have been diagnosed on the basis of the one-stage factor VIII assay. Laboratories should use both one stage and chromogenic (or two-stage) assays in the diagnosis of patients with possible hemophilia A.

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Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype

Abstract: To cite this article: Trossaë rt M, Regnault V, Sigaud M, Boisseau P, Fressinaud E, Lecompte T. Mild hemophilia A with factor VIII assay discrepancy: using thrombin generation assay to assess the bleeding phenotype. J Thromb Haemost 2008; 6: 486-93.

Cited by 79 publications

References 22 publications

Large external quality assessment survey on thrombin generation with CAT: further evidence for the usefulness of normalisation with an external reference plasma

Large external quality assessment survey on thrombin generation with CAT: further evidence for the usefulness of normalisation with an external reference plasma

Diagnosis of factor VIII deficiency

Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A

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