The Genetic Heterogeneity of Hemophilia B

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Abstract
At least three genetic variants of hemophilia B exist: a variant with positive crossreacting material associated with a normal oxbrain prothrombin time; one with positive material but with prolonged ox-brain prothrombin time; and one with undetectable or reduced material associated with a normal ox-brain prothrombin time. All hemophilia BM variants appear to have positive cross-reacting material, but it is not clear whether all patients with positive material are identical to the hemophilia BM variants. Our studies indicate that they are not identical since some patients with positive cross-reacting material have normal ox-brain prothrombin time. The data suggest that hemophilia B is genetically heterogeneous.