Abstract
THE communication by McLester and Graham1 illustrates the difficulties which can arise when the concentration of a plasma protein cannot be measured but can only be inferred from its biological activity. Patients with von Willebrand's disease can synthesize antihæmophilic globulin (AHG, factor VIII): their plasma has AHG activity ranging from 1.6 to 100 per cent of the normal2 and, when stimulated by injection of a plasma fraction free from AHG, the AHG activity of their plasma rises3. If the hypothetical ‘activator’ or ‘inhibitor’ or ‘inducer’ of AHG suggested by McLester and Graham exists, it is presumably qualitatively and quantitatively normal in hæmophilia-A and in carriers of the hæmophilia-A gene. It follows that von Willebrand's disease is irrelevant to any discussion of gene action in heterozygotes for hæmophilia-A, though of great importance in the hæmatological aspects of the bleeding diatheses.
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WOOLF, L. Gene Expression in Heterozygotes and Synthesis of Plasma Antihæmophilic Factor. Nature 200, 481 (1963). https://doi.org/10.1038/200481a0
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DOI: https://doi.org/10.1038/200481a0
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