Hemophilia A and B: molecular and clinical characteristics of similar, but different diseases.

Hemophilia A and B: molecular and clinical characteristics of similar, but different diseases. Haematologica. 2019 Aug 08;: Authors: Castaman G, Matino D Abstract Several lines of evidence seem to suggest that the clinical features of hemophilia A and B patients may differ in several points. Genetic background shows a prevalence of missense mutations in hemophilia B compared to the high percentage of mutations leading to no protein synthesis in hemophilia A. As a consequence, and also probably because factor IX is smaller than factor VIII, with less antigenic epitopes, the risk of inhibitor is significantly lower in hemophilia B. Although at presentation the two disorders show overlapping features as to age at first bleeding episode and treatment, data from international trials suggest that bleeding episodes could be less frequent and severe in hemophilia B adults. Before the era of long-acting factor concentrates, fewer hemophilia B patients were on prophylaxis compared to hemophilia A, suggesting also a different perception of the clinicians themselves about the severity of the two disorders. Finally, radiologic and histologic data seems to suggest that the evolution of arthropathy could follow different pathways, being nevertheless less severe on the average in hemophilia B. . PMID: 31399527 [PubMed - as supplied by publisher]
Source: Haematologica - Category: Hematology Authors: Tags: Haematologica Source Type: research