Attenuation of phenotypical expression of severe hemophilia A in presence of simultaneous prothrombotic Factor V mutation: The debate continues

Saugata Acharyya; Kakoli Acharyya; Archana Parasar; Shanto Pramanik

doi:10.4103/jfmpc.jfmpc_603_19

Attenuation of phenotypical expression of severe hemophilia A in presence of simultaneous prothrombotic Factor V mutation: The debate continues

J Family Med Prim Care. 2019 Sep 30;8(9):3051-3053. doi: 10.4103/jfmpc.jfmpc_603_19. eCollection 2019 Sep.

Authors

Saugata Acharyya¹, Kakoli Acharyya¹, Archana Parasar¹, Shanto Pramanik¹

Affiliation

¹ Department of Paediatrics, Calcutta Medical Research Institute, Kolkata, West Bengal, India.

Abstract

The effect of coexistence of the prothrombotic Factor V Leiden mutation on the phenotypical expression in hemophilia is still debatable. Six-year-old boy with severe hemophilia A had presented with large soft tissue hematoma, treated with Factor VIII concentrate. Simultaneous Factor V Leiden mutation had resulted in attenuation of clinical features.

Keywords: Factor V Leiden mutation; hemophilia A; phenotypical expression.

Publication types

Case Reports