Table 1.
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 |
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.