Table 1.
Clinical features and blood counts of the proband and family members at the first examination
| Father | Mother | Proband | 1st sibling | 2nd sibling | |
|---|---|---|---|---|---|
| Age (months)/Gender | 42/M | 7/M | 2/F | ||
| Clinical presentation | None | None | Spontaneous bleeding, infections | None | Bleeding at vaccination |
| Hemoglobin (g/dl) | 13.6 | 12.3 | 7.8 | 12.5 | 8.2 |
| Red blood cells (×1012/l) | 4.27 | 3.83 | 2.28 | 4.27 | 2.71 |
| Mean corpuscular volume (fl) | 91.4 | 91.6 | 100 | 83.4 | 84.9 |
| White blood cells (×109/l) | 5 | 9.6 | 5.4 | 11.7 | 9.5 |
| Neutrophils (×109/l) | 2 | 6.6 | 0.3 | 3.34 | 2.7 |
| Platelets (×109/l) | 197 | 193 | 3 | 26 | 27 |
| Platelet diameter, mean/2.5th–97.5th (μm)a | 3.3/2.3–5.2 | 2.7/1.6–4.8 | 3.1/1.8–4.9 | 2.6/1.6–3.9 | 2.7/1.9–4.2 |
a
Normal values: 2.6/1.6–3.9 μm (Noris et al, 2014).