An Update on Laboratory Diagnostics in Haemophilia A and B-Reference-Cited by-同舟云学术

An Update on Laboratory Diagnostics in Haemophilia A and B

Published:2022-02-01 Issue:04 Volume:42 Page:248-260
ISSN:0720-9355
Container-title:Hämostaseologie
language:de
Short-container-title:Hamostaseologie

Author:

Müller Jens¹,Miesbach Wolfgang²,Prüller Florian³,Siegemund Thomas⁴,Scholz Ute⁵,Sachs Ulrich J.⁶,

Affiliation:

1. Institute for Experimental Hematology and Transfusion Medicine, University Hospital Bonn, Medical Faculty, University of Bonn, Bonn, Germany

2. Department of Haemostaseology and Hemophilia Center, Medical Clinic 2, Institute of Transfusion Medicine, University Hospital Frankfurt, Frankfurt, Germany

3. Clinical Institute of Medical and Chemical Laboratory Diagnostics, Medical University of Graz, Graz, Austria

4. Division of Hemostaseology, Department of Medicine, University Hospital Leipzig, Leipzig, Germany

5. Center of Hemostasis, MVZ Labor Leipzig, Leipzig, Germany

6. Department of Thrombosis and Haemostasis, Giessen University Hospital, Giessen, Germany

Abstract

AbstractHaemophilia A (HA) and B (HB) are X-linked hereditary bleeding disorders caused by lack of activity of coagulation factors VIII (FVIII) or IX (FIX), respectively. Besides conventional products, modern replacement therapies include FVIII or FIX concentrates with an extended half-life (EHL-FVIII/FIX). Two main strategies for measuring plasma FVIII or FIX activity are applied: the one-stage clotting assay (OSCA) and the chromogenic substrate assay (CSA), both calibrated against plasma (FVIII/FIX) standards. Due to the structural modifications of EHL-FVIII/FIX, reagent-dependent assay discrepancies have been described when measuring the activity of these molecules. Assay discrepancies have also been observed in FVIII/FIX gene therapy approaches. On the other hand, nonfactor replacement by the bispecific antibody emicizumab, a FVIIIa-mimicking molecule, artificially shortens activated partial thromboplastin time–based clotting times, making standard OSCAs inapplicable for analysis of samples from patients treated with this drug. In this review, we aim to give an overview on both, the currently applied and future therapies in HA and HB with or without inhibitors and corresponding test systems suitable for accompanying diagnostics.

Publisher

Georg Thieme Verlag KG

Subject

Hematology

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/a-1665-6232.pdf

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