An Update on Laboratory Diagnostics in Haemophilia A and B

被引：12

作者：

Mueller, Jens ^{[1
]}

Miesbach, Wolfgang ^{[2
,3
]}

Prueller, Florian ^{[4
]}

Siegemund, Thomas ^{[5
]}

Scholz, Ute ^{[6
]}

Sachs, Ulrich J. ^{[7
]}

机构：

[1] Univ Bonn, Med Fac, Univ Hosp Bonn, Inst Expt Hematol & Transfus Med, Venusberg Campus 1, D-53127 Bonn, Germany

[2] Univ Hosp Frankfurt, Inst Transfus Med, Dept Haemostaseol, Frankfurt, Germany

[3] Univ Hosp Frankfurt, Inst Transfus Med, Med Clin 2, Hemophilia Ctr, Frankfurt, Germany

[4] Med Univ Graz, Clin Inst Med & Chem Lab Diagnost, Graz, Austria

[5] Univ Hosp Leipzig, Dept Med, Div Hemostaseol, Leipzig, Germany

[6] MVZ Lab Leipzig, Ctr Hemostasis, Leipzig, Germany

[7] Giessen Univ Hosp, Dept Thrombosis & Haemostasis, Giessen, Germany

来源：

HAMOSTASEOLOGIE | 2022年 / 42卷 / 04期

关键词：

haemophilia A; B; factor concentrates; extended half-life products; emicizumab; gene therapy; EXTENDED HALF-LIFE; RECOMBINANT FACTOR-VIII; FACTOR-IX INHIBITORS; NONACOG BETA PEGOL; FC FUSION PROTEIN; ONE-STAGE; CHROMOGENIC ASSAYS; BETHESDA ASSAY; CLOTTING ASSAY; EMICIZUMAB PROPHYLAXIS;

D O I：

10.1055/a-1665-6232

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Haemophilia 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.

引用

页码：248 / 260

页数：13

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