Incidence, significance, and subtypes of hemophilia BM in a large population of hemophilia B patients

Abstract

Eleven patients with hemophilia BM were found out of a population of 66 patients with hemophilia B. Factor IX activity in the hemophilia BM varied between less than 1% and 1.6% of normal but factor IX antigen was normal or only slightly reduced in each instance. Thrombotest clotting time was variably prolonged and was not corrected by the addition of normal plasma. Thrombotest mixing experiments and dilution curve studies confirmed the presence of the inhibitor in every patient. There are at least two forms of hemophilia BM, a severe one and a mild one. In the first form, Thrombotest is severely prolonged (90-120 s). In the other, the prolongation is mild or moderate (60-80 s). A positive correlation exists between the antigen-activity difference (delta antigen-activity) and the prolongation of Thrombotest both in the propositi and in obligatory carriers. The criteria for the diagnosis of hemophilia BM are the following: prolonged PTT, prolonged Thrombotest, lack of correction of Thrombotest by the addition of normal plasma while PTT is fully corrected. The lack of correction of Thrombotest in the presence of a full correction of PTT, is the unique clotting feature.