Hematologic parameters for individuals from Families C and F
| . | . | . | Family C . | . | . | Family F . | Normal range . | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c.500A→G (p.H167R) . | 4.7-Mb deletion on chromosome 7 . | |||||||||||||||||||||||||||
| Subject | C1 | C1A | C2 | C3 | C1B | F1 | F2 | F3 | F4 | F4A | F4B | F5 | F5A | F5B | F5C | F5D | F6 | F7 | F8 | F9 | F10 | F11 | F12 | F13 | F14 | F14B | F14D | — |
| Sex | F | M | F | F | F | F | F | M | M | M | F | F | M | M | F | F | M | F | F | M | M | M | M | M | M | M | F | — |
| Age | 49 | 47 | 18 | 16 | 14 | 64 | 71 | 39 | 37 | 10 | 6 | 35 | 11 | 3 | 12 | 6 | 48 | 14 | 10 | 8 | 23 | 21 | 19 | 16 | 44 | 12 | 11 | — |
| Affected/ Unaffected (A/U) | A | U | A | A | U | A | A | A | A | U | U | A | U* | U* | U* | U* | A | A | A | A | A | A | A | A | U | U | U | — |
| WBC, K/μL | 9.01 | 6.34 | 7.58 | 9.68 | 13.08 | 6.10 | 3.95 | 4.70 | 6.45 | 7.04 | 8.36 | 8.62 | 8.4 | 9.84 | 10.7 | 7.32 | 5.40 | 4.81 | 5.95 | 4.74 | 7.87 | 8.9 | 8.68 | 6.98 | 10.33 | 6.32 | 5.67 | 3.98-10.04 |
| RBC, M/μL | 4.80 | 5.13 | 5.08 | 4.80 | 4.63 | 3.40 | 4.51 | 4.79 | 4.65 | 4.14 | 3.69 | 4.31 | 4.7 | 3.7 | 4.71 | 4.33 | 5.5 | 4.98 | 5.02 | 4.33 | 5.19 | 5.18 | 4.97 | 5.13 | 5.06 | 4.74 | 4.35 | 3.93-5.22 |
| Hb, g/dL | 13.9 | 16.3 | 13.1 | 14.6 | 13.7 | 10.2 | 13.9 | 15.1 | 14.8 | 12.2 | 10.5 | 13.0 | 13.6 | 10.5 | 13.7 | 12.5 | 16.1 | 14.7 | 13.9 | 12.1 | 16.9 | 17.4 | 16.0 | 16.6 | 15.2 | 14.0 | 13.2 | 11.0-17.0 |
| HCT, % | 41.5 | 46.9 | 40.7 | 42.1 | 40.3 | 32.3 | 43.1 | 45.8 | 45.0 | 37.5 | 33.2 | 42.4 | 42.7 | 33.2 | 42.8 | 39.1 | 50.6 | 46.9 | 43.8 | 38.8 | 50.1 | 52.8 | 47.9 | 49.9 | 49.1 | 44.6 | 41.1 | 34.0-50.0 |
| MCV, fL | 86.5 | 91.4 | 80.1 | 87.7 | 87.0 | 95.0 | 95.6 | 95.6 | 96.8 | 90.6 | 90.0 | 98.4 | 90.9 | 89.7 | 90.9 | 90.3 | 92.0 | 94.2 | 87.3 | 89.6 | 96.5 | 101.9 | 96.4 | 97.3 | 97.0 | 94.1 | 94.5 | 79.4-96.0 |
| MCH, pg | 29.0 | 31.8 | 25.8 | 30.4 | 29.6 | 30.0 | 30.8 | 31.5 | 31.8 | 29.5 | 28.5 | 30.2 | 28.9 | 28.4 | 29.1 | 28.9 | 29.3 | 29.5 | 27.7 | 27.9 | 32.6 | 33.6 | 32.2 | 32.4 | 30.0 | 29.5 | 30.3 | 25.6-33.0 |
| MCHC, g/dL | 33.5 | 34.8 | 32.2 | 34.7 | 34.0 | 31.6 | 32.3 | 33.0 | 32.9 | 32.5 | 31.6 | 30.7 | 31.9 | 31.6 | 32.0 | 32.0 | 31.8 | 31.3 | 31.7 | 31.2 | 33.7 | 33.0 | 33.4 | 33.3 | 31.0 | 31.4 | 32.1 | 32.2-35.5 |
| RDW, % | 12.7 | 12.6 | 14.1 | 13.1 | 12.7 | 14.1 | 14.9 | 13.8 | 14.1 | 12.9 | 13.3 | 13.4 | 13.3 | 14.4 | 13.2 | 13.4 | 14.6 | 13.5 | 14.3 | 13.0 | 13.5 | 13.3 | 14.3 | 14.0 | 12.7 | 13.4 | 12.3 | 11.7-14.4 |
| Platelet count, K/μL | 361 | 209 | 279 | 231 | 329 | 254 | 185 | 225 | 179 | 285 | 291 | 350 | 333 | 448 | 430 | 371 | 207 | 273 | 281 | 266 | 230 | 354 | 315 | 288 | 344 | 416 | 353 | 173-369 |
| MPV, fL | 10.0 | 11.0 | 10.2 | 10.0 | 8.9 | 11.4 | 10.6 | 11.0 | 11.8 | 10.0 | 10.08 | 10.4 | 10.9 | 10.2 | 10.0 | 10.1 | 9.5 | 9.8 | 10.1 | 10.5 | 9.6 | 8.6 | 9.2 | 8.8 | 11.0 | 11.0 | 11.2 | 9.4-12.3 |
| Nucleated RBCs, K/μL | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.0 | 0.00 | 0.02 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | 0.01 | <0.01 | <0.01 | <0.01 | <0.01 | 0.00-0.01 |
| Neutrophils, K/μL | 4.51 | 3.66 | 3.84 | 4.25 | 10.15 | 3.43 | 1.45 | 3.13 | 2.49 | 3.35 | 3.86 | 5.08 | 4.02 | 4.23 | 4.69 | 2.76 | 3.03 | 2.44 | 2.48 | 1.51 | 3.97 | 4.18 | 3.38 | 3.70 | 6.33 | 3.42 | 2.46 | 1.56-6.13 |
| Absolute lymphocytes, K/μL | 3.36 | 1.98 | 2.81 | 4.60 | 1.85 | 1.86 | 2.11 | 1.02 | 3.26 | 2.76 | 3.78 | 2.67 | 3.29 | 4.82 | 4.81 | 3.66 | 1.73 | 1.75 | 2.51 | 2.65 | 2.87 | 3.86 | 4.10 | 2.21 | 2.78 | 2.00 | 2.52 | 1.18-3.74 |
| Absolute monocytes, K/μL | 0.77 | 0.49 | 0.74 | 0.78 | 0.88 | 0.64 | 0.37 | 0.35 | 0.58 | 0.47 | 0.52 | 0.59 | 0.62 | 0.65 | 0.91 | 0.63 | 0.52 | 0.44 | 0.56 | 0.46 | 0.62 | 0.6 | 0.81 | 0.74 | 0.69 | 0.52 | 0.49 | 0.24-0.86 |
| Absolute eosinophils, K/μL | 0.21 | 0.13 | 0.09 | 0.00 | 0.08 | 0.12 | <0.03 | 0.14 | 0.05 | 0.42 | 0.15 | 0.19 | 0.39 | 0.07 | 0.17 | 0.19 | <0.03 | 0.12 | 0.35 | 0.06 | 0.26 | 0.17 | 0.25 | 0.20 | 0.41 | 0.31 | 0.17 | 0.04-0.36 |
| Absolute basophils, K/μL | 0.09 | 0.05 | 0.05 | 0.05 | 0.06 | 0.03 | <0.03 | 0.04 | 0.05 | 0.04 | 0.03 | 0.06 | 0.05 | 0.04 | 0.07 | 0.06 | 0.09 | 0.04 | 0.04 | 0.04 | 0.12 | 0.06 | 0.12 | 0.12 | 0.08 | 0.06 | <0.03 | 0.00-0.10 |
| Reticulocyte, % | — | — | — | — | — | 1.4 | 1.3 | 1.0 | 1.1 | 0.9 | 0.9 | 1.5 | 1.2 | 1.7 | 1.4 | 1.4 | 1.8 | 0.9 | 0.8 | 0.8 | 2.5 | 3.3 | 2.7 | 2.2 | 1.5 | 1.4 | 1.3 | 0.5-2.0 |
| Absolute reticulocytes, K/μL | — | — | — | — | — | 46.9 | 60.0 | 46.5 | 49.3 | 37.7 | 33.6 | 64.7 | 56.6 | 62.9 | 64.1 | 60.6 | 96.8 | 44.8 | 41.2 | 34.6 | 126.0 | 171.5 | 134.2 | 113.9 | 77.4 | 68.3 | 56.1 | — |
| HbF, % | 1.5 | 1.1 | 1.1 | 0.5 | 0.8 | 0.2 | 0.3 | 0.2 | 0.2 | 0.2 | 0.3 | 0.2 | 0.2 | 1.5 | 0.8 | 0.3 | 0.2 | 0.2 | 0.4 | 0.2 | 0.2 | 0.7 | 0.2 | 0.2 | 0.3 | 0.3 | 0.9 | <2.0 |
| HbA2, % | 2.2 | 2.5 | 2.1 | 2.1 | 2.7 | 2.8 | 2.9 | 2.9 | 3.1 | 2.8 | 3.2 | 2.7 | 3.2 | 3.1 | 3.0 | 3.0 | 3.0 | 2.8 | 2.7 | 3.2 | 3.0 | 3.1 | 2.9 | 2.9 | 3.0 | 2.9 | 3.1 | <3.5 |
| . | . | . | Family C . | . | . | Family F . | Normal range . | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c.500A→G (p.H167R) . | 4.7-Mb deletion on chromosome 7 . | |||||||||||||||||||||||||||
| Subject | C1 | C1A | C2 | C3 | C1B | F1 | F2 | F3 | F4 | F4A | F4B | F5 | F5A | F5B | F5C | F5D | F6 | F7 | F8 | F9 | F10 | F11 | F12 | F13 | F14 | F14B | F14D | — |
| Sex | F | M | F | F | F | F | F | M | M | M | F | F | M | M | F | F | M | F | F | M | M | M | M | M | M | M | F | — |
| Age | 49 | 47 | 18 | 16 | 14 | 64 | 71 | 39 | 37 | 10 | 6 | 35 | 11 | 3 | 12 | 6 | 48 | 14 | 10 | 8 | 23 | 21 | 19 | 16 | 44 | 12 | 11 | — |
| Affected/ Unaffected (A/U) | A | U | A | A | U | A | A | A | A | U | U | A | U* | U* | U* | U* | A | A | A | A | A | A | A | A | U | U | U | — |
| WBC, K/μL | 9.01 | 6.34 | 7.58 | 9.68 | 13.08 | 6.10 | 3.95 | 4.70 | 6.45 | 7.04 | 8.36 | 8.62 | 8.4 | 9.84 | 10.7 | 7.32 | 5.40 | 4.81 | 5.95 | 4.74 | 7.87 | 8.9 | 8.68 | 6.98 | 10.33 | 6.32 | 5.67 | 3.98-10.04 |
| RBC, M/μL | 4.80 | 5.13 | 5.08 | 4.80 | 4.63 | 3.40 | 4.51 | 4.79 | 4.65 | 4.14 | 3.69 | 4.31 | 4.7 | 3.7 | 4.71 | 4.33 | 5.5 | 4.98 | 5.02 | 4.33 | 5.19 | 5.18 | 4.97 | 5.13 | 5.06 | 4.74 | 4.35 | 3.93-5.22 |
| Hb, g/dL | 13.9 | 16.3 | 13.1 | 14.6 | 13.7 | 10.2 | 13.9 | 15.1 | 14.8 | 12.2 | 10.5 | 13.0 | 13.6 | 10.5 | 13.7 | 12.5 | 16.1 | 14.7 | 13.9 | 12.1 | 16.9 | 17.4 | 16.0 | 16.6 | 15.2 | 14.0 | 13.2 | 11.0-17.0 |
| HCT, % | 41.5 | 46.9 | 40.7 | 42.1 | 40.3 | 32.3 | 43.1 | 45.8 | 45.0 | 37.5 | 33.2 | 42.4 | 42.7 | 33.2 | 42.8 | 39.1 | 50.6 | 46.9 | 43.8 | 38.8 | 50.1 | 52.8 | 47.9 | 49.9 | 49.1 | 44.6 | 41.1 | 34.0-50.0 |
| MCV, fL | 86.5 | 91.4 | 80.1 | 87.7 | 87.0 | 95.0 | 95.6 | 95.6 | 96.8 | 90.6 | 90.0 | 98.4 | 90.9 | 89.7 | 90.9 | 90.3 | 92.0 | 94.2 | 87.3 | 89.6 | 96.5 | 101.9 | 96.4 | 97.3 | 97.0 | 94.1 | 94.5 | 79.4-96.0 |
| MCH, pg | 29.0 | 31.8 | 25.8 | 30.4 | 29.6 | 30.0 | 30.8 | 31.5 | 31.8 | 29.5 | 28.5 | 30.2 | 28.9 | 28.4 | 29.1 | 28.9 | 29.3 | 29.5 | 27.7 | 27.9 | 32.6 | 33.6 | 32.2 | 32.4 | 30.0 | 29.5 | 30.3 | 25.6-33.0 |
| MCHC, g/dL | 33.5 | 34.8 | 32.2 | 34.7 | 34.0 | 31.6 | 32.3 | 33.0 | 32.9 | 32.5 | 31.6 | 30.7 | 31.9 | 31.6 | 32.0 | 32.0 | 31.8 | 31.3 | 31.7 | 31.2 | 33.7 | 33.0 | 33.4 | 33.3 | 31.0 | 31.4 | 32.1 | 32.2-35.5 |
| RDW, % | 12.7 | 12.6 | 14.1 | 13.1 | 12.7 | 14.1 | 14.9 | 13.8 | 14.1 | 12.9 | 13.3 | 13.4 | 13.3 | 14.4 | 13.2 | 13.4 | 14.6 | 13.5 | 14.3 | 13.0 | 13.5 | 13.3 | 14.3 | 14.0 | 12.7 | 13.4 | 12.3 | 11.7-14.4 |
| Platelet count, K/μL | 361 | 209 | 279 | 231 | 329 | 254 | 185 | 225 | 179 | 285 | 291 | 350 | 333 | 448 | 430 | 371 | 207 | 273 | 281 | 266 | 230 | 354 | 315 | 288 | 344 | 416 | 353 | 173-369 |
| MPV, fL | 10.0 | 11.0 | 10.2 | 10.0 | 8.9 | 11.4 | 10.6 | 11.0 | 11.8 | 10.0 | 10.08 | 10.4 | 10.9 | 10.2 | 10.0 | 10.1 | 9.5 | 9.8 | 10.1 | 10.5 | 9.6 | 8.6 | 9.2 | 8.8 | 11.0 | 11.0 | 11.2 | 9.4-12.3 |
| Nucleated RBCs, K/μL | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.00 | 0.0 | 0.00 | 0.02 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | <0.01 | 0.01 | <0.01 | <0.01 | <0.01 | <0.01 | 0.00-0.01 |
| Neutrophils, K/μL | 4.51 | 3.66 | 3.84 | 4.25 | 10.15 | 3.43 | 1.45 | 3.13 | 2.49 | 3.35 | 3.86 | 5.08 | 4.02 | 4.23 | 4.69 | 2.76 | 3.03 | 2.44 | 2.48 | 1.51 | 3.97 | 4.18 | 3.38 | 3.70 | 6.33 | 3.42 | 2.46 | 1.56-6.13 |
| Absolute lymphocytes, K/μL | 3.36 | 1.98 | 2.81 | 4.60 | 1.85 | 1.86 | 2.11 | 1.02 | 3.26 | 2.76 | 3.78 | 2.67 | 3.29 | 4.82 | 4.81 | 3.66 | 1.73 | 1.75 | 2.51 | 2.65 | 2.87 | 3.86 | 4.10 | 2.21 | 2.78 | 2.00 | 2.52 | 1.18-3.74 |
| Absolute monocytes, K/μL | 0.77 | 0.49 | 0.74 | 0.78 | 0.88 | 0.64 | 0.37 | 0.35 | 0.58 | 0.47 | 0.52 | 0.59 | 0.62 | 0.65 | 0.91 | 0.63 | 0.52 | 0.44 | 0.56 | 0.46 | 0.62 | 0.6 | 0.81 | 0.74 | 0.69 | 0.52 | 0.49 | 0.24-0.86 |
| Absolute eosinophils, K/μL | 0.21 | 0.13 | 0.09 | 0.00 | 0.08 | 0.12 | <0.03 | 0.14 | 0.05 | 0.42 | 0.15 | 0.19 | 0.39 | 0.07 | 0.17 | 0.19 | <0.03 | 0.12 | 0.35 | 0.06 | 0.26 | 0.17 | 0.25 | 0.20 | 0.41 | 0.31 | 0.17 | 0.04-0.36 |
| Absolute basophils, K/μL | 0.09 | 0.05 | 0.05 | 0.05 | 0.06 | 0.03 | <0.03 | 0.04 | 0.05 | 0.04 | 0.03 | 0.06 | 0.05 | 0.04 | 0.07 | 0.06 | 0.09 | 0.04 | 0.04 | 0.04 | 0.12 | 0.06 | 0.12 | 0.12 | 0.08 | 0.06 | <0.03 | 0.00-0.10 |
| Reticulocyte, % | — | — | — | — | — | 1.4 | 1.3 | 1.0 | 1.1 | 0.9 | 0.9 | 1.5 | 1.2 | 1.7 | 1.4 | 1.4 | 1.8 | 0.9 | 0.8 | 0.8 | 2.5 | 3.3 | 2.7 | 2.2 | 1.5 | 1.4 | 1.3 | 0.5-2.0 |
| Absolute reticulocytes, K/μL | — | — | — | — | — | 46.9 | 60.0 | 46.5 | 49.3 | 37.7 | 33.6 | 64.7 | 56.6 | 62.9 | 64.1 | 60.6 | 96.8 | 44.8 | 41.2 | 34.6 | 126.0 | 171.5 | 134.2 | 113.9 | 77.4 | 68.3 | 56.1 | — |
| HbF, % | 1.5 | 1.1 | 1.1 | 0.5 | 0.8 | 0.2 | 0.3 | 0.2 | 0.2 | 0.2 | 0.3 | 0.2 | 0.2 | 1.5 | 0.8 | 0.3 | 0.2 | 0.2 | 0.4 | 0.2 | 0.2 | 0.7 | 0.2 | 0.2 | 0.3 | 0.3 | 0.9 | <2.0 |
| HbA2, % | 2.2 | 2.5 | 2.1 | 2.1 | 2.7 | 2.8 | 2.9 | 2.9 | 3.1 | 2.8 | 3.2 | 2.7 | 3.2 | 3.1 | 3.0 | 3.0 | 3.0 | 2.8 | 2.7 | 3.2 | 3.0 | 3.1 | 2.9 | 2.9 | 3.0 | 2.9 | 3.1 | <3.5 |
HCT, hematocrit; MCH, mean corpuscular Hb; MCHC, MHC concentration; MCV, mean corpuscular volume; MPV, mean platelet volume; RBC, red blood cell; RDW, RBC distribution width.