Clinical, hematological, and skeletal muscle characteristics of participants, carriers, and patients
| . | W_CON . | W_SCT . | W_SCD . | M_CON . | M_SCT . | M_SCD . | Genotype . | Sex . | Cross-effect . |
|---|---|---|---|---|---|---|---|---|---|
| Anthropometric and physiological characteristics | |||||||||
| Age (y) | 21.8 (1.40) | 22.3 (2.71) | 25.1 (5.90) | 25.5 (2.76) | 23.6 (3.00) | 25.1 (5.72) | NS | NS | NS |
| Height (cm) | 164 (7.71) | 158 (6.79) | 166 (11.7) | 176 (5.70) | 175 (5.36) | 173 (7.73) | NS | <.001 | NS |
| Body mass (kg) | 57.7 (8.12) | 58.3 (6.65) | 60.7 (11.3) | 72.7 (6.60) | 67.0 (5.34) | 62.3 (10.5) | NS | <.001 | 0.06 |
| BMI (kg/m2) | 23.0 (3.26) | 23.2 (1.83) | 21.8 (2.66) | 23.1 (1.96) | 21.9 (1.30) | 20.1 (2.27) | .062 | NS | NS |
| Hemoglobin and hematological data | |||||||||
| Hct (%) | 34.6 (2.84) | 34.5 (2.24) | 20.7 (3.50) | 41.1 (2.43) | 39.8 (1.66) | 23.3 (3.71) | <.001∗,† | <.001 | NS |
| Hb (g/dL) | 11.6 (1.33) | 11.6 (0.70) | 7.2 (1.31) | 14.1 (1.00) | 13.4 (0.80) | 8.76 (1.41) | <.001∗,† | <.001 | NS |
| MCH (pg) | 25.6 (2.15) | 25.5 (2.08) | 28.3 (4.98) | 26.6 (2.50) | 24.0 (3.76) | 28.3 (3.61) | .034† | NS | NS |
| MCHC (mg/L) | 33.4 (32.8-34.2) | 33.7 (33.0-34.7) | 35.2 (34.7-35.5) | 34.8 (33.6-35.0) | 33.3 (33.0-34.5) | 35.9 (34.1-36.1) | .057 | NS | — |
| MCV (f/L) | 76.4 (4.92) | 75.3 (4.60) | 81.7 (13.1) | 77.3 (5.76) | 71.0 (11.0) | 78.1 (12.8) | .079 | NS | NS |
| HbS (%) | NA | 33.6 (2.68) | 78.2 (4.06) | NA | 31.7 (5.97) | 80.9 (5.37) | <.001† | 0.08 | NS |
| HbS total (g/dL) | NA | 3.91 (0.35) | 5.58 (0.90) | NA | 4.20 (0.10) | 7.09 (1.19) | <.001† | <.01 | 0.065 |
| MCHS (pg) | NA | 8.61 (1.20) | 22.1 (3.56) | NA | 7.69 (2.66) | 22.5 (3.72) | <.001† | NS | NS |
| MCHCS (mg/L) | NA | 11.4 (1.15) | 27.0 (1.56) | NA | 10.5 (2.18) | 28.2 (2.88) | <.001† | NS | NS |
| HbF (%) | 0.00 (0.00-0.00) | 0.00 (0.00-0.75) | 7.30 (4.10-9.60) | 0.00 (0.00-0.00) | 0.00 (0.00-0.00) | 2.30 (1.92-6.21) | <.001∗,† | NS | — |
| HbF total (g/dL) | 0.00 (0.00-0.00) | 0.00 (0.00-0.09) | 0.54 (0.32-0.77) | 0.00 (0.00-0.00) | 0.00 (0.00-0.00) | 0.18 (0.15-0.61) | <.001∗,† | NS | — |
| MCHF (pg) | 0.00 (0.00-0.00) | 0.00 (0.00-0.21) | 1.99 (0.86-3.06) | 0.00 (0.00-0.00) | 0.00 (0.00-0.00) | 0.68 (0.49-2.05) | <.001∗,† | NS | — |
| MCHCF (mg/L) | 0.00 (0.00-0.00) | 0.00 (0.00-0.26) | 2.61 (1.42-3.38) | 0.00 (0.00-0.00) | 0.00 (0.00-0.00) | 0.83 (0.70-2.22) | <.001∗,† | NS | — |
| Oxygenation and hypoxia signaling | |||||||||
| Myoglobin (a.u.) | 1.00 (1.00-1.11) | 1.00 (0.93-1.00) | 1.05 (0.69-1.08) | 1.03 (0.88-1.11) | 0.73 (0.71-0.82) | 0.98 (0.78-1.33) | NS | NS | — |
| HIF-1α mRNA (a.u.) | 0.514 (0.197) | 0.474 (0.104) | 0.506 (0.072) | 0.414 (0.083) | 0.472 (0.204) | 0.445 (0.118) | NS | NS | NS |
| REDD1 mRNA (a.u.) | 0.276 (0.190) | 0.441 (1.006) | 0.175 (0.206) | 0.231 (0.406) | 0.051 (0.038) | 0.195 (0.138) | NS | NS | NS |
| Enzymes activity | |||||||||
| CK (μmol.min–1.g–1) | 1.85 (0.15) | 1.70 (0.25) | 1.61 (0.21) | 1.82 (0.11) | 1.77 (0.16) | 1.54 (0.23) | <.001∗,† | NS | NS |
| PFK (μmol.min–1.g–1) | 291 (41.1) | 303 (39.1) | 326 (39.5) | 285 (30.41) | 306 (42.8) | 305 (29.3) | NS | NS | NS |
| LDH (μmol.min–1.g–1) | 882 (128) | 832 (110) | 811 (126) | 852 (131) | 897 (139) | 789 (106) | NS | NS | NS |
| β-HAD (μmol.min–1.g–1) | 16.4 (1.66) | 15.4 (3.99) | 13.1 (1.72) | 17.6 (3.26) | 15.0 (2.25) | 12.1 (1.75) | <.001∗,†,‡ | NS | NS |
| CS (μmol.min–1.g–1) | 19.9 (2.48) | 19.1 (3.62) | 15.5 (2.33) | 20.7 (3.32) | 20.6 (2.47) | 14.0 (1.83) | <.001∗,† | NS | NS |
| Total COx activity (a.u.) | 113 (14.2) | 107 (12.2) | 103 (13.4) | 116 (9.00) | 118 (13.1) | 116 (10.0) | NS | <.01 | NS |
| . | W_CON . | W_SCT . | W_SCD . | M_CON . | M_SCT . | M_SCD . | Genotype . | Sex . | Cross-effect . |
|---|---|---|---|---|---|---|---|---|---|
| Anthropometric and physiological characteristics | |||||||||
| Age (y) | 21.8 (1.40) | 22.3 (2.71) | 25.1 (5.90) | 25.5 (2.76) | 23.6 (3.00) | 25.1 (5.72) | NS | NS | NS |
| Height (cm) | 164 (7.71) | 158 (6.79) | 166 (11.7) | 176 (5.70) | 175 (5.36) | 173 (7.73) | NS | <.001 | NS |
| Body mass (kg) | 57.7 (8.12) | 58.3 (6.65) | 60.7 (11.3) | 72.7 (6.60) | 67.0 (5.34) | 62.3 (10.5) | NS | <.001 | 0.06 |
| BMI (kg/m2) | 23.0 (3.26) | 23.2 (1.83) | 21.8 (2.66) | 23.1 (1.96) | 21.9 (1.30) | 20.1 (2.27) | .062 | NS | NS |
| Hemoglobin and hematological data | |||||||||
| Hct (%) | 34.6 (2.84) | 34.5 (2.24) | 20.7 (3.50) | 41.1 (2.43) | 39.8 (1.66) | 23.3 (3.71) | <.001∗,† | <.001 | NS |
| Hb (g/dL) | 11.6 (1.33) | 11.6 (0.70) | 7.2 (1.31) | 14.1 (1.00) | 13.4 (0.80) | 8.76 (1.41) | <.001∗,† | <.001 | NS |
| MCH (pg) | 25.6 (2.15) | 25.5 (2.08) | 28.3 (4.98) | 26.6 (2.50) | 24.0 (3.76) | 28.3 (3.61) | .034† | NS | NS |
| MCHC (mg/L) | 33.4 (32.8-34.2) | 33.7 (33.0-34.7) | 35.2 (34.7-35.5) | 34.8 (33.6-35.0) | 33.3 (33.0-34.5) | 35.9 (34.1-36.1) | .057 | NS | — |
| MCV (f/L) | 76.4 (4.92) | 75.3 (4.60) | 81.7 (13.1) | 77.3 (5.76) | 71.0 (11.0) | 78.1 (12.8) | .079 | NS | NS |
| HbS (%) | NA | 33.6 (2.68) | 78.2 (4.06) | NA | 31.7 (5.97) | 80.9 (5.37) | <.001† | 0.08 | NS |
| HbS total (g/dL) | NA | 3.91 (0.35) | 5.58 (0.90) | NA | 4.20 (0.10) | 7.09 (1.19) | <.001† | <.01 | 0.065 |
| MCHS (pg) | NA | 8.61 (1.20) | 22.1 (3.56) | NA | 7.69 (2.66) | 22.5 (3.72) | <.001† | NS | NS |
| MCHCS (mg/L) | NA | 11.4 (1.15) | 27.0 (1.56) | NA | 10.5 (2.18) | 28.2 (2.88) | <.001† | NS | NS |
| HbF (%) | 0.00 (0.00-0.00) | 0.00 (0.00-0.75) | 7.30 (4.10-9.60) | 0.00 (0.00-0.00) | 0.00 (0.00-0.00) | 2.30 (1.92-6.21) | <.001∗,† | NS | — |
| HbF total (g/dL) | 0.00 (0.00-0.00) | 0.00 (0.00-0.09) | 0.54 (0.32-0.77) | 0.00 (0.00-0.00) | 0.00 (0.00-0.00) | 0.18 (0.15-0.61) | <.001∗,† | NS | — |
| MCHF (pg) | 0.00 (0.00-0.00) | 0.00 (0.00-0.21) | 1.99 (0.86-3.06) | 0.00 (0.00-0.00) | 0.00 (0.00-0.00) | 0.68 (0.49-2.05) | <.001∗,† | NS | — |
| MCHCF (mg/L) | 0.00 (0.00-0.00) | 0.00 (0.00-0.26) | 2.61 (1.42-3.38) | 0.00 (0.00-0.00) | 0.00 (0.00-0.00) | 0.83 (0.70-2.22) | <.001∗,† | NS | — |
| Oxygenation and hypoxia signaling | |||||||||
| Myoglobin (a.u.) | 1.00 (1.00-1.11) | 1.00 (0.93-1.00) | 1.05 (0.69-1.08) | 1.03 (0.88-1.11) | 0.73 (0.71-0.82) | 0.98 (0.78-1.33) | NS | NS | — |
| HIF-1α mRNA (a.u.) | 0.514 (0.197) | 0.474 (0.104) | 0.506 (0.072) | 0.414 (0.083) | 0.472 (0.204) | 0.445 (0.118) | NS | NS | NS |
| REDD1 mRNA (a.u.) | 0.276 (0.190) | 0.441 (1.006) | 0.175 (0.206) | 0.231 (0.406) | 0.051 (0.038) | 0.195 (0.138) | NS | NS | NS |
| Enzymes activity | |||||||||
| CK (μmol.min–1.g–1) | 1.85 (0.15) | 1.70 (0.25) | 1.61 (0.21) | 1.82 (0.11) | 1.77 (0.16) | 1.54 (0.23) | <.001∗,† | NS | NS |
| PFK (μmol.min–1.g–1) | 291 (41.1) | 303 (39.1) | 326 (39.5) | 285 (30.41) | 306 (42.8) | 305 (29.3) | NS | NS | NS |
| LDH (μmol.min–1.g–1) | 882 (128) | 832 (110) | 811 (126) | 852 (131) | 897 (139) | 789 (106) | NS | NS | NS |
| β-HAD (μmol.min–1.g–1) | 16.4 (1.66) | 15.4 (3.99) | 13.1 (1.72) | 17.6 (3.26) | 15.0 (2.25) | 12.1 (1.75) | <.001∗,†,‡ | NS | NS |
| CS (μmol.min–1.g–1) | 19.9 (2.48) | 19.1 (3.62) | 15.5 (2.33) | 20.7 (3.32) | 20.6 (2.47) | 14.0 (1.83) | <.001∗,† | NS | NS |
| Total COx activity (a.u.) | 113 (14.2) | 107 (12.2) | 103 (13.4) | 116 (9.00) | 118 (13.1) | 116 (10.0) | NS | <.01 | NS |
Values are mean (standard deviation) or median (Q1-Q3) and probability. No value in the crossed effect column indicates the use of nonparametric Kruskal-Wallis test.
a.u., arbitrary; BMI, body mass index; HbF, fetal Hb; Hct, hematocrit LDH, lactate dehydrogenase; M, men; MCH, mean corpuscular hemoglobin content; MCHC, mean corpuscular hemoglobin concentration; MCHCF, mean corpuscular HbF concentration; MCHCS, mean corpuscular HbS concentration; MCV, mean corpuscular volume; NA, nonapplicable; NS, not significant; PFK, phosphofructokinase; Q, quartile; W, women.
Genotype effect post hoc analysis: CON vs SCD.
Genotype effect post hoc analysis: SCD vs SCT.
Genotype effect post hoc analysis: CON vs SCT.