The related deficiency and mutation can be quickly identified by flow cytometry and linked to platelet disorders such as Bernard–Soulier syndrome (BSS) (GPIb), Glanzmann’s thrombasthenia (GT) (GPIIb/IIIa) and platelet storage pool diseases such as gray platelet syndrome (α-granule). The gene discussed is ITGA2B; the disease is Glanzmann thrombasthenia 1.