Background: Glanzmann's thrombasthenia (GT) is a rare congenital bleeding disorder clinically presented with mucocutaneous bleeding associated with trauma and/or surgery. Patients with GT have normal platelet count but prolonged bleeding time. GT is been reported to be associated with mutations in the genes, which encode for glycoprotein IIb/IIIa (GPIIb/IIIa). Case presentation: A 2-year-old male patient with a history of recurrent nasal bleeding for 1 year was presented to us. Bleeding time was found prolonged (9 minutes), while activated partial thromboplastin time was 37 seconds, prothrombin time (PT) was 13.5 seconds and remained within the normal range. Platelet aggregation assays were defective when using adenosine diphosphate, adrenaline, collagen, and arachidonic acid. Genetic analysis found a novel likely pathogenic homozygous mutation c.985G > T in the ITGA2B gene. The subjects were controlled by using 1 g of aminocaproic acid twice daily for 10 days, which improved the bleeding time was improved to 6 minutes. Conclusion: The present study reported a child (2 years) with novel pathogenic mutation c.985G > T in the ITGA2B gene associated with GT and reviewed its clinical management.
Key words: Glanzmann's thrombasthenia, mutation, bleeding, platelets aggregation.
|
