Figure 1.
Platelet function testing and sequencing. (A) Human platelet aggregation in response to epinephrine (Epi; 100 μM), collagen (Coll; 2 mg/mL), U46619 (1 μM) in platelet-rich plasma from the patient (left panels), his brother (right panels), and parallel healthy controls. Traces are representative of 4 independent experiments. (B) α-granule secretion in platelets from the patient, his brother, and parallel healthy controls, as assessed by the measurement of β-thromboglobulin content and secretion by enzyme-linked immunosorbent assay. Agonists were adenosine 5′-diphosphate (ADP; 5 μM), Epi (100 μM), Coll (2 mg/mL), arachidonic acid (1mM), and U46619 (1 μM). β-thromboglobulin levels are reported as ng/108 platelets. Data are presented as means ± standard error of the mean (SEM) from 4 independent experiments. ∗P < .05 vs control; ∗∗P < .01 vs control; 2-way analysis of variance (ANOVA). (C) δ-granule secretion in platelets from the patient, his brother and parallel healthy controls as assessed by the measurement of adenosine triphosphate (ATP) content and secretion by lumiaggregometry. Agonists were ADP (5 μM), Epi (100 μM), Coll (2 mg/mL), arachidonic acid (1 mM), and U46619 (1 μM). ATP is reported as nanomoles per 108 platelets. Data are presented as means ± SEM from 4 independent experiments. ∗P < .05 vs control; ∗∗P < .01 vs control; 2-way ANOVA. (D) Integrin αIIbβ3 activation (PAC-1 binding) as assessed by flow cytometry in response to ADP (10 μM) in whole blood from the patient, his brother, and parallel healthy controls. PAC-1 binding is reported as percentage of positive platelets, calculated as the percentage of platelets (gated for their forward scatter and side scatter values, and for their positivity to the platelet marker CD42b) that bound PAC-1 over the total platelet population after setting of nonspecific binding. Data are presented as means ± SEM from 4 independent experiments. ∗∗P < .01 vs control; 2-way ANOVA. (E) Sequencing of DNA from the finger nails of patient brother, showing the heterozygous c.784C>T variant in RUNX1, leading to p.Gln262Ter.

Platelet function testing and sequencing. (A) Human platelet aggregation in response to epinephrine (Epi; 100 μM), collagen (Coll; 2 mg/mL), U46619 (1 μM) in platelet-rich plasma from the patient (left panels), his brother (right panels), and parallel healthy controls. Traces are representative of 4 independent experiments. (B) α-granule secretion in platelets from the patient, his brother, and parallel healthy controls, as assessed by the measurement of β-thromboglobulin content and secretion by enzyme-linked immunosorbent assay. Agonists were adenosine 5′-diphosphate (ADP; 5 μM), Epi (100 μM), Coll (2 mg/mL), arachidonic acid (1mM), and U46619 (1 μM). β-thromboglobulin levels are reported as ng/108 platelets. Data are presented as means ± standard error of the mean (SEM) from 4 independent experiments. ∗P < .05 vs control; ∗∗P < .01 vs control; 2-way analysis of variance (ANOVA). (C) δ-granule secretion in platelets from the patient, his brother and parallel healthy controls as assessed by the measurement of adenosine triphosphate (ATP) content and secretion by lumiaggregometry. Agonists were ADP (5 μM), Epi (100 μM), Coll (2 mg/mL), arachidonic acid (1 mM), and U46619 (1 μM). ATP is reported as nanomoles per 108 platelets. Data are presented as means ± SEM from 4 independent experiments. ∗P < .05 vs control; ∗∗P < .01 vs control; 2-way ANOVA. (D) Integrin αIIbβ3 activation (PAC-1 binding) as assessed by flow cytometry in response to ADP (10 μM) in whole blood from the patient, his brother, and parallel healthy controls. PAC-1 binding is reported as percentage of positive platelets, calculated as the percentage of platelets (gated for their forward scatter and side scatter values, and for their positivity to the platelet marker CD42b) that bound PAC-1 over the total platelet population after setting of nonspecific binding. Data are presented as means ± SEM from 4 independent experiments. ∗∗P < .01 vs control; 2-way ANOVA. (E) Sequencing of DNA from the finger nails of patient brother, showing the heterozygous c.784C>T variant in RUNX1, leading to p.Gln262Ter.

Close Modal
This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal