Table 1. Physical characteristics and blood indices in a patient with erythrocytosis secondary to PHD2 mutation, compared with values from previously published studies on patients with Chuvash polycythemia and healthy control participants (Smith et al. 2006)
Healthy control participants Mean ± SD (n = 6)Chuvash polycythemia Mean ± SD (n = 3)PHD2‐deficient patient (n = 1)
Physical characteristics
Age (year)24 ± 522 ± 535
Height (cm)173 ± 10174 ± 5175
Weight (kg)73 ± 1159 ± 1080
Body mass index (kg/m2)24 ± 220 ± 526
Full blood count
Hemoglobin (g/L)137 ± 17141 ± 21178
Hematocrit0.42 ± 0.050.48 ± 0.080.52
Mean cell volume (fL)89 ± 364 ± 6a85
Serum iron studies
Iron (μmol/L)17 ± 44 ± 1a16
Ferritin (ng/ml)49 ± 372 ± 1193
Transferrin (g/L)2.6 ± 0.53.8 ± 0.3a2.2
Transferrin saturation (%)30 ± 94 ± 132
Arterial blood gases
PO2 (mmHg)99 ± 11102 ± 3107
PCO2 (mmHg)40 ± 434 ± 2a36
pH (mmHg)7.38 ± 0.027.41 ± 0.02a7.45
  • a Significant difference compared with control participants (P < 0.05, Student's t‐test). Mean ± SD.