PB0236 - Coinheritance of Combined Factor V and Factor VII Deficiency is Associated With a Mild Bleeding Phenotype in Patient With Non-Transfusion Dependent Thalassemia

Background: The coinheritance of FV and FVII is extremely rare. FV and FVII deficiency was common in the Saudi population. However, double heterozygous have not been described in hypercoagulable states such as thalassemia. This is a case of combined FV and FVII deficiency in a non-transfusion-dependent thalassemic presented with hemarthrosis.

Aims: This report aims to describe a case of combined coagulation factor V and factor FVII deficiency in beta thalassemia trait child who was presented with painful knee swelling post minor trauma.

Methods: We conducted a retrospective chart review.

Results: An 8-year-old boy known to have a beta-thalassemia trait presented with painful knee swelling after mild trauma. He was pale, jaundiced, with no palpable hepato-splenomegaly. Soft tissue ultrasound suggested hemarthrosis. Coagulation factors assays showed normal results with a notably combined deficiency of coagulation factors V and VII.

During infancy, he had a history of prolonged oozing after circumcision. Since then, the child has had a history of multiple bleeding episodes post minor trauma that was controlled by fresh frozen plasma (FFP) transfusion. Moreover, with a significant history of traumatic subgaleal hematoma, he was admitted and received FFP and packed red blood cells (PRBCs).

The child's parents were consequence with maternal positive beta-thalassemia trait.

Conclusion(s): We have identified a previously unreported mild phenotypic combined FV and FVII deficiency in patients with hemoglobinopathy disorder. Hypercoagulable state in hemoglobinopathies might mitigate the bleeding phenotype of factor deficiency, though bleeding history should be thoroughly investigated in such cases.