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Semin Thromb Hemost 2013; 39(07): 816-833
DOI: 10.1055/s-0033-1356573
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Problems and Solutions in Laboratory Testing for Hemophilia

Emmanuel J. Favaloro
1   Department of Haematology, Institute of Clinical Pathology and Medical Research (ICPMR), Pathology West, Westmead Hospital, Westmead, New South Wales, Australia
,
Piet Meijer
2   ECAT Foundation, Dobbeweg 1, Voorschoten, The Netherlands
,
Ian Jennings
3   NEQAS UK Coagulation, Sheffield, United Kingdom
,
John Sioufi
4   RCPAQAP Haematology, St Leonards, New South Wales, Australia
,
Roslyn A. Bonar
4   RCPAQAP Haematology, St Leonards, New South Wales, Australia
,
Dianne P. Kitchen
2   ECAT Foundation, Dobbeweg 1, Voorschoten, The Netherlands
,
Geoffrey Kershaw
5   Institute of Haematology, Royal Prince Alfred Hospital, Camperdown, New South Wales, Australia
,
Giuseppe Lippi
6   Department of Pathology and Laboratory Medicine, Laboratory of Clinical Chemistry and Hematology, Academic Hospital of Parma, Parma, Italy
› Author Affiliations
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Publication Date:
11 September 2013 (online)

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Problems and Solutions in Laboratory Testing for HemophiliaSemin Thromb Hemost 2014; 40(01): 135-135
DOI: 10.1055/s-0033-1360721

Abstract

A diagnosis of hemophilia A or hemophilia B begins with clinical assessment of the patient and is facilitated by laboratory testing. The influence of the latter on a diagnosis of hemophilia A or hemophilia B is clear—a diagnosis cannot be made without laboratory confirmation of a deficiency of factor FVIII (FVIII) or factor IX (FIX), respectively. Moreover, the degree of hemophilia severity is specifically characterized by laboratory test results. In turn, patient management, including choice and application of therapies, is influenced by the diagnosis, as well as by identification of respective disease severity. An incorrect diagnosis may lead to inappropriate management and unnecessary therapy, and thus to adverse outcomes. Moreover, identification of factor inhibitors in hemophilia will lead to additional and differential treatments, and incorrect identification of inhibitors or inhibitor levels may also lead to inappropriate management. Problems in hemophilia diagnosis or inhibitor detection can occur at any stage in the clinical diagnosis/laboratory interface, from the “pre-preanalytical” to “preanalytical” to “analytical” to “postanalytical” to “post-postanalytical.” This report outlines the various problems in laboratory testing for hemophilia and provides various strategies or solutions to overcome these challenges. Although some outlined solutions are specific to the potential errors related to hemophilia, others are general in nature and can be applied to other areas of laboratory hemostasis. Key to improvement in this area is adoption of best practice by all involved, including clinicians, phlebotomists, and laboratories. Also key is the recognition that such errors may occur, and thus that clinicians should assess laboratory test results in the context of their patient's clinical history and follow-up any potential errors, thus avoid misdiagnoses, by requesting repeat testing on a fresh sample.

Keywords

hemophilia - laboratory testing - preanalytical - analytical - quality - diagnostic practice