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- Kihlberg, K.Skåne University Hospital (author)
Discrepancies between the one-stage clotting assay and the chromogenic assay in haemophilia B
- Article/chapterEnglish2017
Publisher, publication year, extent ...
- 2017-04-24
- Wiley,2017
Numbers
- LIBRIS-ID:oai:lup.lub.lu.se:0a58a3d9-8606-4e4c-9859-5bb29ba2c8b2
- https://lup.lub.lu.se/record/0a58a3d9-8606-4e4c-9859-5bb29ba2c8b2URI
- https://doi.org/10.1111/hae.13219DOI
Supplementary language notes
- Language:English
- Summary in:English
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- SwePubSwePub
Classification
Notes
- Introduction: Assay discrepancy in factor VIII activity between the one-stage and the chromogenic assays has been described in approximately one third of patients with non-severe haemophilia A. Whether assay discrepancy may also occur in patients with haemophilia B remains unknown. Aim: This study compared the results from the one-stage and the chromogenic assays in patients with haemophilia B. Methods: Plasma samples from patients with haemophilia B attending the haemophilia centre in Malmö, Sweden, were collected after a wash-out period of more than 7 days and analysed with both assays. Results: Fifty samples from 36 patients were analysed. No discrepancy was found in patients with severe haemophilia B. Among the 44 plasma samples from patients with non-severe disease, 15 showed a twofold or greater difference between the results of the two methods, with the chromogenic method presenting the higher value (mean FIX:Cone-stage 0.02 vs. FIX:Cchromo 0.06 IU mL-1). Of these 15 samples, 14 were from seven individuals from five families with the same mutated amino acid at the N-terminal cleaving site of the activation peptide (FIX: c.572G>A; p.Arg191His or FIX: c.571C>T; p.Arg191Cys). These mutations were not observed in any patients with non-discrepant results. The reported bleeding frequency for these patients was low and indicative of a mild bleeding phenotype. Conclusion: Our findings imply that assay discrepancy occurs for factor IX activity and that both type of assays are needed for a correct diagnosis and classification of haemophilia B. The underlying mechanism by which the mutation influences the assays remains to be determined.
Subject headings and genre
- MEDICIN OCH HÄLSOVETENSKAP Klinisk medicin Hematologi hsv//swe
- MEDICAL AND HEALTH SCIENCES Clinical Medicine Hematology hsv//eng
- Assay discrepancy
- Chromogenic assay
- Coagulation factor IX
- Haemophilia B
- Mutations
- One-stage assay
Added entries (persons, corporate bodies, meetings, titles ...)
- Strandberg, K.Skåne University Hospital(Swepub:lu)klke-kst (author)
- Rosén, S. (author)
- Ljung, R.Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Pediatrisk hematologi,Forskargrupper vid Lunds universitet,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,Paediatric Haematology Research Unit,Lund University Research Groups,Skåne University Hospital(Swepub:lu)pedi-rlj (author)
- Astermark, J.Skåne University Hospital(Swepub:lu)medf-jas (author)
- Skåne University HospitalPediatrik, Lund (creator_code:org_t)
Related titles
- In:Haemophilia: Wiley23:4, s. 620-6271351-8216
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- Astermark, J.
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