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 ± 5 | 22 ± 5 | 35 |
Height (cm) | 173 ± 10 | 174 ± 5 | 175 |
Weight (kg) | 73 ± 11 | 59 ± 10 | 80 |
Body mass index (kg/m2) | 24 ± 2 | 20 ± 5 | 26 |
Full blood count | |||
Hemoglobin (g/L) | 137 ± 17 | 141 ± 21 | 178 |
Hematocrit | 0.42 ± 0.05 | 0.48 ± 0.08 | 0.52 |
Mean cell volume (fL) | 89 ± 3 | 64 ± 6a | 85 |
Serum iron studies | |||
Iron (μmol/L) | 17 ± 4 | 4 ± 1a | 16 |
Ferritin (ng/ml) | 49 ± 37 | 2 ± 1 | 193 |
Transferrin (g/L) | 2.6 ± 0.5 | 3.8 ± 0.3a | 2.2 |
Transferrin saturation (%) | 30 ± 9 | 4 ± 1 | 32 |
Arterial blood gases | |||
PO2 (mmHg) | 99 ± 11 | 102 ± 3 | 107 |
PCO2 (mmHg) | 40 ± 4 | 34 ± 2a | 36 |
pH (mmHg) | 7.38 ± 0.02 | 7.41 ± 0.02a | 7.45 |
Significant difference compared with control participants (P < 0.05, Student's t‐test). Mean ± SD.