Clinical features of the proband and family members
| Feature . | Family members . | |||||
|---|---|---|---|---|---|---|
| I.1 (father) . | I.2 (mother) . | II.1 (proband)* . | II.2 (anemic brother)† . | II.3 (unaffected brother) . | II.4 (unaffected sister) . | |
| Age (y) | 62 | 61 | 24 | 28 | 31 | 35 |
| Clinical presentation | None | None | AA | None | None | None |
| Blood counts | ||||||
| Hb (g/dL) | 14.1 | 15.9 | 9.2 | 10.2 | 17.2/16.5 | 12.4 |
| WBC (×109/L) | 5 | 6 | 3.3 | 3.2 | 9.8/7.3 | 7.8 |
| Platelets (150-400 × 109/L) | 91 | 159 | 67 | 15 | 185/178 | 370 |
| Neutrophils (×109/L) | 2.47 | 2.71 | 1.18 | 1.22 | 7.33/3.27 | 4.43 |
| MCV (80-100 FL) | 94 | 94 | 91-115 | 119 | 89/88 | 82 |
| MPV (7-11 FL) | 8 | 9 | 8 | 8 | 9 | 8 |
| Bone marrow examination | ND | ND | Hypocellular (no blasts) | ND | ND | ND |
| Other clinical abnormalities/laboratory studies | NA | NA | Normal AFP, THPO levels, treated with CSA, prednisone, and ATG | NA | NA | NA |
| Feature . | Family members . | |||||
|---|---|---|---|---|---|---|
| I.1 (father) . | I.2 (mother) . | II.1 (proband)* . | II.2 (anemic brother)† . | II.3 (unaffected brother) . | II.4 (unaffected sister) . | |
| Age (y) | 62 | 61 | 24 | 28 | 31 | 35 |
| Clinical presentation | None | None | AA | None | None | None |
| Blood counts | ||||||
| Hb (g/dL) | 14.1 | 15.9 | 9.2 | 10.2 | 17.2/16.5 | 12.4 |
| WBC (×109/L) | 5 | 6 | 3.3 | 3.2 | 9.8/7.3 | 7.8 |
| Platelets (150-400 × 109/L) | 91 | 159 | 67 | 15 | 185/178 | 370 |
| Neutrophils (×109/L) | 2.47 | 2.71 | 1.18 | 1.22 | 7.33/3.27 | 4.43 |
| MCV (80-100 FL) | 94 | 94 | 91-115 | 119 | 89/88 | 82 |
| MPV (7-11 FL) | 8 | 9 | 8 | 8 | 9 | 8 |
| Bone marrow examination | ND | ND | Hypocellular (no blasts) | ND | ND | ND |
| Other clinical abnormalities/laboratory studies | NA | NA | Normal AFP, THPO levels, treated with CSA, prednisone, and ATG | NA | NA | NA |
AFP, α fetoprotein; ATG, anti-thymocyte globulin; CSA, cyclosporin A; Hb, hemoglobin; MCV, mean corpuscular volume; MPV, mean platelet volume; NA, not applicable; ND, not done; THPO, thrombopoietin; WBC, white blood cell.
Proband (individual II.1) had nonsyndromic aplastic anemia with hypocellular bone marrow.
Proband’s older asymptomatic brother (II.2) was also found to have pancytopenia with macrocytosis. He did not have bone marrow examination.