Abstract
Inherited bleeding disorders can be classified into three categories – those due to deficient platelet number or function, those due to deficient coagulation protein activity, and those due to vascular abnormality. The coagulation laboratory has a key role in evaluating patients in the first two categories, while disorders of vascular function are usually diagnosed by physical examination and certain genetic tests. Table 6.1 is a comprehensive listing of inherited platelet and coagulation disorders associated with bleeding, categorized by manner of genetic transmission. This chapter will focus on laboratory aspects of qualitative platelet disorders, von Willebrand’s disease, and the coagulation disorders associated with bleeding. Unlike certain inherited thrombotic disorders that are associated with highly-conserved point mutations (e.g., factor V Leiden), the inherited bleeding disorders are polygenic and are best diagnosed with functional coagulation assays. All assays discussed in this chapter have FDA approval except for the quantitative factor XIII assay.
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Rodgers, G.M. (2015). Testing for Inherited Bleeding Disorders. In: Laboratory Hemostasis. Springer, Cham. https://doi.org/10.1007/978-3-319-08924-9_6
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DOI: https://doi.org/10.1007/978-3-319-08924-9_6
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