PB1308 - Identification of a Novel ITGA2B Gene Mutation in a Child with Glanzmann's Thrombasthenia

Background: Glanzmann's thrombasthenia is an inherited platelet disorder. It is often caused by mutations in the ITGA2B or ITGB3 genes, leading to abnormalities in the GP IIb/IIIa complex, affecting platelet aggregation. Conventional screening sometimes fails to diagnose it accurately. Genetic sequencing is crucial for identifying new mutations, which may become future therapeutic targets.

Aims: To identify the cause of bleeding in a pediatric patient through gene sequencing.

Methods: Peripheral blood from a child with a bleeding tendency and their parents was collected for Sanger sequencing.

Results: An 8-year-old child has repeatedly exhibited bilateral lower limb purpura over the past year. Laboratory tests indicated coagulation factor II and factor V activities at 68.5% and 57.4% respectively (normal range:70 - 120%). The tourniquet test was positive. Sanger sequencing revealed a missense mutation in the ITGA2B gene: c. 2264G>A (p. R755Q). Further familial testing traced the mutation's origin to the patient's mother (Figure 1)

Conclusion(s): A new pathogenic mutation in ITGA2B could be responsible for Glanzmann's thrombasthenia in this case.