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

ABSTRACT:

Introduction 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

SUBMITTER: Sarhan FMA 

PROVIDER: S-EPMC9121243 | biostudies-literature | 2022 Jun

REPOSITORIES: biostudies-literature