Table 2. Laboratory Characteristics of Patients with Novel Mutations.
Patient | RBC count (106/μL) | Hemoglobin (g/dL) | MCV (fL) | MCH (pg) | MCHC (g/dL) | RDW (%) | ARC (103/μL) |
---|---|---|---|---|---|---|---|
Patient #1 | 3.9 | 9.9 | 73.3 | 25.4 | 37.4 | 17.7 | 113 |
Patient #13 | 3.0 | 10.5 | 96.3* | 34.9 | 36.3 | 14 | 119 |
Patient #14 | 2.2 | 4.9 | 60.2 | 22 | 36.5 | 26.3 | 187 |
RBC: red blood cell; MCV: mean corpuscular volume; MCH: mean corpuscular hemoglobin; MCHC: mean corpuscular hemoglobin concentration; RDW: red blood cell distribution width; ARC: absolute reticulocyte count.
This test was done in neonatal period. Normal MCV for age: 98-118 fL.