Clinical features of the patients with PIEZO1 variants analyzed in this study
| Code . | Age . | Gender . | RBC . | Hb . | Hct . | MCV . | MCH . | MCHC . | ARC . | Total bilirubin . | LDH . | Ferritin . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| y . | M/F . | ×106/μL . | g/dL . | % . | fL . | pg . | g/dL . | ×103/μL . | mg/dL . | U/L . | μg/L . | |
| DHS1 | 50 | M | 4.4 | 14.9 | 44.2 | 100.0 | 33.7 | 33.7 | 380.0 | 5.7 | 335.0 | 1180.0 |
| DHS2 | 35 | M | 4.6 | 16.0 | 43.7 | 94.4 | 34.6 | 36.6 | 130.0 | 2.8 | 210.0 | 293.0 |
| DHS3 | 49 | M | 5.7 | 16.8 | 47.1 | 82.6 | 29.4 | 35.6 | 113.0 | 1.1 | 251.0 | 294.0 |
| DHS4 | 18 | F | 5.1 | 13.4 | 40.0 | 92.0 | 29.1 | 31.6 | 69.0 | 1.5 | 530.0 | 126.0 |
| DHS5 | 36 | M | 2.7 | 8.6 | 26.8 | 99.9 | 32.2 | 32.2 | 905.0 | 7.3 | 192.0 | 32.0 |
| DHS6 | 53 | M | 5.0 | 15.1 | 46.0 | 93.1 | 30.3 | 32.5 | 442.0 | 2.3 | 8.9 | 789.0 |
| DHS7 | 30 | F | 3.4 | 13.5 | 37.7 | 111.0 | 40.0 | 38.2 | - | - | 1.4 | 775.0 |
| DHS8 | 20 | F | 3.6 | 11.9 | 33.2 | 92.2 | 33.1 | 36.0 | - | - | 235.0 | 312.0 |
| DHS9 | 13 | F | 4.0 | 13.0 | 0.0 | 88.4 | - | 36.7 | 217.0 | 13.0 | - | - |
| DHS10 | 15 | F | 6.1 | 10.8 | 33.9 | 55.2 | 17.6 | 31.9 | 896.0 | 1.3 | 210.0 | 31.5 |
| DHS11 | 14 | F | 2.8 | 10.9 | 31.4 | 110.0 | 38.2 | 34.6 | 535.0 | 1.9 | 253.0 | 355.0 |
| DHS12 | 1 | M | 3.0 | 8.8 | 26.7 | 89.7 | 29.6 | 33.0 | 127.0 | 0.6 | 307.0 | 556.0 |
| DHS13 | 6 | F | 3.8 | 11.0 | 34.6 | 91.9 | 29.2 | 31.8 | 189.0 | 0.4 | 328.0 | 48.3 |
| DHS14 | 3 | M | 3.6 | 11.7 | 33.8 | 94.0 | 31.5 | 33.5 | 165.0 | 4.6 | 315.0 | 488.0 |
| DHS15 | 4 | M | 3.8 | 11.7 | 34.8 | 90.7 | 30.5 | 33.7 | 145.0 | 4.3 | 250.0 | 72.0 |
| DHS16 | 6 | M | 4.2 | 12.8 | 37.8 | 90.7 | 30.6 | 33.8 | 266.0 | 1.4 | 316.0 | 68.0 |
| Code . | Age . | Gender . | RBC . | Hb . | Hct . | MCV . | MCH . | MCHC . | ARC . | Total bilirubin . | LDH . | Ferritin . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| y . | M/F . | ×106/μL . | g/dL . | % . | fL . | pg . | g/dL . | ×103/μL . | mg/dL . | U/L . | μg/L . | |
| DHS1 | 50 | M | 4.4 | 14.9 | 44.2 | 100.0 | 33.7 | 33.7 | 380.0 | 5.7 | 335.0 | 1180.0 |
| DHS2 | 35 | M | 4.6 | 16.0 | 43.7 | 94.4 | 34.6 | 36.6 | 130.0 | 2.8 | 210.0 | 293.0 |
| DHS3 | 49 | M | 5.7 | 16.8 | 47.1 | 82.6 | 29.4 | 35.6 | 113.0 | 1.1 | 251.0 | 294.0 |
| DHS4 | 18 | F | 5.1 | 13.4 | 40.0 | 92.0 | 29.1 | 31.6 | 69.0 | 1.5 | 530.0 | 126.0 |
| DHS5 | 36 | M | 2.7 | 8.6 | 26.8 | 99.9 | 32.2 | 32.2 | 905.0 | 7.3 | 192.0 | 32.0 |
| DHS6 | 53 | M | 5.0 | 15.1 | 46.0 | 93.1 | 30.3 | 32.5 | 442.0 | 2.3 | 8.9 | 789.0 |
| DHS7 | 30 | F | 3.4 | 13.5 | 37.7 | 111.0 | 40.0 | 38.2 | - | - | 1.4 | 775.0 |
| DHS8 | 20 | F | 3.6 | 11.9 | 33.2 | 92.2 | 33.1 | 36.0 | - | - | 235.0 | 312.0 |
| DHS9 | 13 | F | 4.0 | 13.0 | 0.0 | 88.4 | - | 36.7 | 217.0 | 13.0 | - | - |
| DHS10 | 15 | F | 6.1 | 10.8 | 33.9 | 55.2 | 17.6 | 31.9 | 896.0 | 1.3 | 210.0 | 31.5 |
| DHS11 | 14 | F | 2.8 | 10.9 | 31.4 | 110.0 | 38.2 | 34.6 | 535.0 | 1.9 | 253.0 | 355.0 |
| DHS12 | 1 | M | 3.0 | 8.8 | 26.7 | 89.7 | 29.6 | 33.0 | 127.0 | 0.6 | 307.0 | 556.0 |
| DHS13 | 6 | F | 3.8 | 11.0 | 34.6 | 91.9 | 29.2 | 31.8 | 189.0 | 0.4 | 328.0 | 48.3 |
| DHS14 | 3 | M | 3.6 | 11.7 | 33.8 | 94.0 | 31.5 | 33.5 | 165.0 | 4.6 | 315.0 | 488.0 |
| DHS15 | 4 | M | 3.8 | 11.7 | 34.8 | 90.7 | 30.5 | 33.7 | 145.0 | 4.3 | 250.0 | 72.0 |
| DHS16 | 6 | M | 4.2 | 12.8 | 37.8 | 90.7 | 30.6 | 33.8 | 266.0 | 1.4 | 316.0 | 68.0 |
ARC, absolute reticulocyte count; F, female; Hb, hemoglobin; Ht, hematocrit; LDH, lactate dehydrogenase; M, male; MCH, mean corpuscular hemoglobin; MCHC, mean corpuscular hemoglobin concentration; MCV, mean corpuscular volume.