Table 1. Demographics and clinical information.
Sickle cell disease patients from three cohorts were included in this study. For the CSSCD, all data are prospective and we only considered patients with genome-wide genotyping data available. For GEN-MOD and OMG, all data were collected at baseline and are retrospective, except survival which is prospective. 1Painful crises in GEN-MOD and OMG are defined as crises requiring hospitalization which was dichotomized (individuals with ≥1 painful crises in the last 12 months are assigned as cases, while individuals with no painful crisis are assigned as controls). In the CSSCD, painful crises are defined as painful episodes requiring emergency room visits, and we dichotomized the data as no crisis (control) or at least one crisis (case) during the follow-up period. For all quantitative variable, we provide mean ± standard deviation. LDH, lactate dehydrogenase; RBC, red blood cell; MCH: mean corpuscular hemoglobin; MCV: mean corpuscular volume; eGFR, estimated glomerular filtration rate; NA, not available.
| Characteristic | GEN-MOD | OMG | CSSCD |
|---|---|---|---|
| Sex (male/female) | 222/184 | 163/136 | 616/662 |
| Age (year) | 31 ± 9 | 35 ± 14 | 14 ± 12 |
| β-globin genotypes (HbSS/ HbS β0-thal/ HbSS α-thal/ HbSC/ HbS β+) | 406/0/0/0/0 | 255/12/0/23/9 | 883/0/395/0/0 |
| Painful crises (cases/controls)1 | 150/180 | 161/128 | 194/907 |
| Leg ulcer (cases/controls) | 30/300 | 79/214 | 185/970 |
| Cholecystectomy (cases/controls) | 200/206 | 173/72 | 152/932 |
| Aseptic necrosis (cases/controls) | 94/236 | 93/194 | 164/991 |
| Priapism (cases/controls) | 41/116 | 55/236 | 96/460 |
| SCD retinopathy (cases/controls) | 182/67 | 65/210 | 274/292 |
| SCD survival (cases/controls) | 19/384 | 35/91 | 44/1235 |
| Bilirubin (mg/dL) | 3.5± 2.1 | 2.9 ± 2.4 | 3.3 ± 2.2 |
| eGFR (mL/min per 1.172 m2) | 143.6± 22.8 | 126.0 ± 40.3 | 165.3 ± 47.0 |
| Hemoglobin (g/dL) | 8.8 ± 1.3 | 8.2 ± 1.8 | 8.4 ± 1.3 |
| Hematocrit (%) | 25.8 ± 4.5 | 25.3 ± 5.7 | 24.8 ± 4.03 |
| Lactate dehydrogenase (units/L) | 400.4 ± 144.7 | 326.8 ± 240.2 | 451.6 ± 244.7 |
| MCH (pg) | 29.3 ± 4.1 | 32.0 ± 4.8 | 29.8 ± 3.1 |
| MCV (fL) | 87.0 ± 10.2 | 92.2 ± 12.7 | 89.2 ± 8.5 |
| RBC count (×106 cells/μL) | 3.0 ± 0.80 | 2.9 ± 0.80 | 2.8 ± 0.57 |