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

Glanzmann thrombasthenia (GT) is a rare autosomal recessive bleeding disorder caused by a deficiency of the platelet integrin alpha IIb beta3, which is essential for platelet aggregation and hemostasis. This deficiency disrupts normal clot formation, leading to recurrent mucocutaneous bleeding episodes. The condition is associated with mutations in the ITGA2B or ITGB3 genes on chromosome 17, with these genetic changes altering the function or expression of the integrin. GT’s prevalence is approximately 1 in 1,000,000, but it is significantly higher in populations with high rates of consanguinity.

Diagnosing GT involves ruling out more common bleeding disorders through a comprehensive approach, including a complete blood count, coagulation studies, and von Willebrand factor assays. Definitive diagnosis requires advanced platelet function tests and genetic analysis. Treatment follows a tiered strategy: mild bleeding episodes are managed with local hemostatic measures, whereas severe bleeding may require platelet transfusions or recombinant activated clotting factor VIIa (rFVIIa).

Consanguineous marriages increase the risk of autosomal recessive disorders like GT because related couples are more likely to share and transmit the same gene variants. Research indicates that congenital anomalies are nearly twice as common among offspring of consanguineous unions. In populations with prevalent inbreeding, ancestral gene variants significantly influence the occurrence of these disorders. This case illustrates the impact of consanguinity, given that our patient exhibited symptoms such as bruising and gum bleeding shortly after birth rather than the typical presentation within the first year.