Blood parameters and clinical bleeding symptoms in homozygous carriers of the novel mutations S381F and R113X in CalDAG-GEFI
| . | P1 (S381F) . | P1 (R113X) . | P2 (R113X) . |
|---|---|---|---|
| WBC × 109/L | 7.2 ± 1.2 | 8.0 ± 0.2 | 7.9 ± 1.1 |
| RBC × 1012/L | 4.8 ± 0.4 | 3.9 ± 0.1 | 4.6 ± 0.1 |
| Hb, g/dL | 11.4 ± 1.9 | 10.9 ± 0.6 | 12.5 ± 0.5 |
| Hct (%) | 37.7 ± 8.9 | 32.9 ± 2.5 | 38.5 ± 0.5 |
| Platelets × 109/L | 351.5 ± 84.1 | 182.0 ± 9.9 | 246.0 ± 22.6 |
| MPV, fL | 8.5 ± 0.9 | 10.1 ± 2.2 | 10.0 ± 3.0 |
| PFA-100 CT (s) | |||
| Collagen/epinephrine | >300 | >300 | >300 |
| Collagen/ADP | >300 | 244 | 275 |
| Location of bleeding and score | |||
| Epistaxis | 4 | 4 | 4 |
| Cutaneous symptoms | 1 | 2 | — |
| Minor wounds | 1 | — | 2 |
| Oral cavity bleeding | 1 | — | — |
| Gastrointestinal bleeding | 4 | 1 | |
| Final bleeding score | 7 | 10 | 7 |
| . | P1 (S381F) . | P1 (R113X) . | P2 (R113X) . |
|---|---|---|---|
| WBC × 109/L | 7.2 ± 1.2 | 8.0 ± 0.2 | 7.9 ± 1.1 |
| RBC × 1012/L | 4.8 ± 0.4 | 3.9 ± 0.1 | 4.6 ± 0.1 |
| Hb, g/dL | 11.4 ± 1.9 | 10.9 ± 0.6 | 12.5 ± 0.5 |
| Hct (%) | 37.7 ± 8.9 | 32.9 ± 2.5 | 38.5 ± 0.5 |
| Platelets × 109/L | 351.5 ± 84.1 | 182.0 ± 9.9 | 246.0 ± 22.6 |
| MPV, fL | 8.5 ± 0.9 | 10.1 ± 2.2 | 10.0 ± 3.0 |
| PFA-100 CT (s) | |||
| Collagen/epinephrine | >300 | >300 | >300 |
| Collagen/ADP | >300 | 244 | 275 |
| Location of bleeding and score | |||
| Epistaxis | 4 | 4 | 4 |
| Cutaneous symptoms | 1 | 2 | — |
| Minor wounds | 1 | — | 2 |
| Oral cavity bleeding | 1 | — | — |
| Gastrointestinal bleeding | 4 | 1 | |
| Final bleeding score | 7 | 10 | 7 |
Values are mean ± standard deviation from 2 different complete blood counts separated by at least 2 years. The table reflects the clinically significant bleeding for each symptom, grading the bleeding severity from 0 (absence of symptoms) to 4. The final bleeding score was generated by summing the severity of all bleeding symptoms reported by the patient.16
CT, closure time; Hb, hemoglobin; Hct, hematocrit; MPV, mean platelet volume; P1, proband 1; PFA-100, platelet function analyzer 100; RBC, red blood cell; WBC, white blood cell.