Mitochondrial and Peroxisomal Disorders
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While a prolonged APTT suggests a problem in the intrinsic pathway, a specific Factor VIII assay is required to confirm a diagnosis of Hemophilia A. This test measures the functional activity of Factor VIII in the patient's plasma. It is typically performed using a one-stage clotting assay. A patient's plasma (which is deficient in Factor VIII) is mixed with plasma known to be completely deficient in Factor VIII. The time it takes for this mixture to clot in an APTT system is compared to a standard curve created with known concentrations of Factor VIII. The result is reported as a percentage of normal activity. Severe Hemophilia A is defined as <1% activity, moderate as 1-5%, and mild as 5-40%. This quantitative assay is essential for diagnosis and guiding treatment.
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