Novel compound heterozygous ITGA2B mutations in Glanzmann thrombasthenia associated with adolescent osteoporosis
Abstract
Glanzmann thrombasthenia (GT), caused by defects in integrin αIIbβ3, is characterized by impaired platelet aggregation. While αIIbβ3 dysfunction is well-documented in hematologic pathology, its association with bone metabolism remains controversial. Here, we report a 14-year-old GT patient with a novel compound heterozygous mutation in ITGA2B (Arg358His and Leu466Pro) and asymptomatic radial osteoporosis. Platelet aggregation assays and flow cytometry confirmed type I GT with severely reduced CD41/CD61 expression (
Fields of Study & Subjects
Platelet Disorders and Treatments
Blood disorders and treatments
Blood properties and coagulation
Publication details
- Journal / source
- Platelets
- Volume
- 37
- Issue
- 1
- Pages
- 2612049–2612049
- Publication date
- 9 January 2026
- Language
- EN