Factor V deficiency with a unique genetic mutation presenting as post-circumcision bleeding in a neonate, A-case-report

dc.contributor.authorFajr M A Sarhan
dc.contributor.authorAmeer Al-Jasim
dc.contributor.authorRaghad H. M. Alwahsh
dc.contributor.authorIslam I.A. Mansour
dc.date.accessioned2022-07-03T10:05:50Z
dc.date.available2022-07-03T10:05:50Z
dc.date.issued2022-05-06
dc.descriptionfigures/photos are suitably anonymised with no patient information or means of identifying the patient.
dc.description.abstractIntroduction and importance: Factor V deficiency is a rare bleeding disorder with varying presentations from minor mucosal bleeding to a life-threatening postoperative bleed. Currently, treatment is mainly supportive with Fresh Frozen Plasma. Case presentation: A previously healthy 14-day-old male presented with an uncontrollable bleeding following a circumcision. Physical examination was normal. Investigations showed hemoglobin 15.5 g/dl, platelets 409000, Prothrombin Time 57 seconds, Partial-Thromboplastin-Time 120 seconds. Mixing study corrected the coagulation profile, and the factor assay showed factor V activity of 11%. Genetic testing showed a pathogenic frameshift mutation in the F5 gene p.(P927Lfs*7) causing premature termination after 7 codons thus the diagnosis of Factor V deficiency was made. Clinical discussion: In this case, factor V deficiency presented as post-circumcision bleeding. For diagnosis, increased PT and PTT with normal thrombin time increases the index of suspicion for a bleeding disorder. Further testing with coagulation factors assays is required to make the final diagnosis. Factor V deficient patients undergoing surgery should be adequately prepared, and factor V activity level should be maintained at least at 25% of the normal activity level. The patient level prior to the circumcision was unknown, which led to the life threatening bleed. Conclusions: One of the early presentations of factor V deficiency is a post-circumcision bleeding. Adequate preparation with laboratory tests before circumcision is therefore recommended, especially for high-risk individuals. More than 100 genetic mutations were detected; frameshift mutation involving F5 gene p.(P927Lfs*7) was seen in our case.
dc.identifier.urihttps://hdl.handle.net/20.500.12213/6622
dc.language.isoen
dc.publisherELSEVIER
dc.titleFactor V deficiency with a unique genetic mutation presenting as post-circumcision bleeding in a neonate, A-case-report
dc.typeArticle
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