Glanzmann Thrombasthenia in a Newborn Due to a Rare Homozygous Missense Mutation

Glanzmann thrombasthenia (GT) is an autosomal recessive platelet functional bleeding disorder caused by mutations in the ITGA2B or ITGB3 genes, often presenting as mucocutaneous bleeding. GT typically presents in infancy, but this study reports a rare case of neonatal presentation in a female infant born to consanguineous parents. The mother, a 27-year-old woman with a family history of GT, presented at 36 weeks gestation for an elective cesarean due to a breech presentation. The newborn, delivered with an appearance, pulse, grimace, activity, and respiration (APGAR) score of 9, exhibited spontaneous bruising, gum bleeding, and hyperbilirubinemia, necessitating neonatal intensive care admission. An initial hematologic workup showed normal coagulation profiles, but platelet function was significantly impaired. Genetic analysis identified a homozygous ITGB3 mutation, p.Asp145Asn, with both parents confirmed as heterozygous carriers. Management included factor VIIa, platelet transfusions, fresh frozen plasma, and RBCs. This case underscores the critical need for early recognition of GT in neonates with severe bleeding, especially with family history and consanguinity, and highlights the implications of the p.Asp145Asn mutation in the severe neonatal presentation. Genetic counseling is recommended for the family given the 25% recurrence risk in future pregnancies, and prospective partner testing may aid in assessing recurrence risks for descendants.