MYH10 detection in platelets from patients with inherited thrombocytopenia. (A-E) Immunoblot analysis of MHYH10 expression. In all panels, HEL cells were used as positive controls and HSC70 as loading control. (A) Indicated peripheral blood cell populations from a healthy donor. Platelets − RBC indicates platelets after depletion of RBCs; and Platelets + RBC, platelets without RBC depletion. One representative of 2 experiments is shown. (B) Platelets of FPD/AML patients (AII-1 and AII-2 with R174Q RUNX1 mutation; BII-2 and BIII-1 with R139X RUNX1 mutation; and D with RUNX1 monoallelic deletion) and healthy donors as controls (Co1-3). (C) Platelets of patients with well-identified inherited thrombocytopenia. BS indicates Bernard-Soulier syndrome; GPS, Gray platelet syndrome; GPIVD, thrombocytopenia associated with GPIV defect; and MYH9, thrombocytopenia associated with MYH9 mutations. (D) Platelets of patients from 2 pedigrees (PG1 and PG2, 3 patients in each) with unexplained thrombocytopenia with increased mean platelet volume. (E) Platelets of patients with unexplained thrombocytopenia with normal mean platelet volume. Two patients from the same pedigree are included (PG3). (F) Flowchart of familial thrombocytopenia diagnosis based on MYH10 detection in platelets.