Hematologic features of affected family members
| . | Age (y) . | Hb (g/L) . | MCV (fL) . | Neutrophils (× 109/L) . | Platelets (× 109/L) . | HbF (%) . | Bone marrow . | BM cytogenetics . | Diagnosis . | Outcome . |
|---|---|---|---|---|---|---|---|---|---|---|
| Proband V:1 | 8 | 70 | 121 | 0.6 | 18 | 31 | Aplastic | Normal | Severe aplastic anemia | Alive, transfusion dependent |
| Mother IV:2 | 33 | 126 | 120 | 1.7 | 33 | 3.5 | Hypocellular | Normal | BMF, mild | Alive, stable hematology |
| Maternal g/m III:6 | 55 | 104 | 117 | 1.6 | 102 | N/A | Hypocellular | N/A | Aplastic anemia, oral carcinoma | Deceased (61 y) |
| . | Age (y) . | Hb (g/L) . | MCV (fL) . | Neutrophils (× 109/L) . | Platelets (× 109/L) . | HbF (%) . | Bone marrow . | BM cytogenetics . | Diagnosis . | Outcome . |
|---|---|---|---|---|---|---|---|---|---|---|
| Proband V:1 | 8 | 70 | 121 | 0.6 | 18 | 31 | Aplastic | Normal | Severe aplastic anemia | Alive, transfusion dependent |
| Mother IV:2 | 33 | 126 | 120 | 1.7 | 33 | 3.5 | Hypocellular | Normal | BMF, mild | Alive, stable hematology |
| Maternal g/m III:6 | 55 | 104 | 117 | 1.6 | 102 | N/A | Hypocellular | N/A | Aplastic anemia, oral carcinoma | Deceased (61 y) |
g/m, grandmother; Hb, hemoglobin; HbF, fetal hemoglobin; MCV, mean corpuscular volume; N/A, not available.