Table 1.
Baseline characteristics of patients with SCD and controls
| Patients with SCD* (n = 22) | Controls (n = 10) | |
|---|---|---|
| Patient-related features | ||
| Sex, female, n (%) | 9 (40.9) | 9 (90.0) |
| Age, y | 23 (7-57) | 48 (26-63) |
| α-Thalassemia, n (%) | 3 (13.6) | N/D |
| Splenectomy, n (%) | 1 (4.5) | N/D |
| HU, n (%) | 13 (59.1) | N/D |
| Chronic transfusion, n (%) | 0 (0.0) | N/D |
| Red cell features | ||
| HbF, % | 7.4 (0.6-28.8) | 0.5 (0.4-0.6) |
| HbS, % | 81.3 (59.4-89.3) | 0.0 (0.0-0.0) |
| Hb, g/dL | 9.4 (7.1-12.3) | 14.5 (12.3-17.4) |
| Reticulocytes, % | 9.1 (4.0-21.9) | 1.4 (0.7-2.3) |
| RBC count, 1012/L | 2.9 (2.2-4.4) | 4.7 (3.7-5.4) |
| MCV, fl | 82.3 (69.4-125) | 92.7 (83.8-105) |
| MCHC, g/dL | 34.9 (33.4-38.2) | 34.4 (31.9-37.5) |
| PK features | ||
| PK activity, U/gHb | 13.7 (7.5-22.4)† | 7.9 (5.3-8.7) |
| HK activity, U/gHb | 2.6 (1.2-4.9)† | 0.8 (0.5-1.0) |
| PK/HK ratio | 5.1 (2.5-9.9)† | 8.9 (7.4-14.0) |
| PK-thermostability, % residual activity | 54.9 (35.8.2-80.8)† | 76.3 (72.6-80.9) |
| PK protein, AU/gHb | 146 (105-176)† | 102 (78-124) |
| PKLR mutations | None detected | N/D |
| Metabolic features* | ||
| 2,3-DPG, 10−3 μg/gHb | 4.6 (3.5-6.3)† | 3.3 (2.8-4.1) |
| ATP, 10−3 μg/gHb | 2.0 (1.9-3.0) | 2.0 (1.6-2.5) |
| ATP/2,3-DPG ratio | 0.44 (0.34-0.67)‡ | 0.57 (0.46-0.81) |
Numbers represent median (range) unless stated otherwise.
HU, hydroxyurea; MCHC, mean corpuscular hemoglobin concentration; MCV, mean corpuscular volume; N/D, not determined.
*
Metabolic features were obtained from 14/22 patients with SCD.
†
P < .0001.
‡
P < .01.