Table 1.
Analytical results of the index case and family
| Index case (8 months old) | Twin 1 | Twin 2 | Sister | Mother | Father | Rev. values | |
|---|---|---|---|---|---|---|---|
| Gender | ♂ | ♂ | ♂ | ♀ | ♀ | ♂ | – |
| α genotype | αααanti 3.7/αα | αααanti3.7/αααanti3.7 | αααanti3.7/αααanti3.7 | Αααanti3.7/- | αααanti3.7/αα | αααanti3.7/αααanti3.7 | – |
| β genotype | β+/β+ | β+/N (normal) | β+/N (normal) | – | β+/N (normal) | β+/N (normal) | – |
| HbA2 | 1.7 | 5.6 | 5.70 | 5.5 | 4.7 | 5.4 | – |
| HbF | 90.0 | 3.10 | 3.20 | 2.60 | 1.1 | 2.3 | – |
| Hb (gr/dL) | 6.2 | 10.8 | 9.3 | 10.0 | 8.5 | 11.2 | 13.2–18.0 |
| Hct (%) | 20.0 | 34.9 | 29.8 | 31.9 | 27.5 | 35.9 | 39.0–51.0 |
| Red blood cells (×109/L) | 2.68 | 5.92 | 5.11 | 5.47 | 4.00 | 5.89 | 4.32–5.66 |
| MCV (fL) | 74.40 | 58.80 | 58.20 | 58.40 | 68.80 | 60.90 | 80.0–98.0 |
| MCH (pg) | 22.90 | 18.20 | 18.20 | 18.30 | 21.30 | 19 | 27.30–32.60 |
| Reticulocytes (%) | 4.14 | 1.57 | 2.30 | 2.70 | 3.65 | – | 0.80–2.50 |
| Leukocytes (×109/L) | 16.0 | 10.9 | 12.1 | 6.40 | 8.6 | 8.4 | 3.7–9.5 |
| Platelets (×109/L) | 150 | 351 | 398 | 238 | 263 | 230 | 125–450 |
| Ferritin (ng/mL) | 99.9 | 64.2 | 95.8 | 147.7 | 16.2 | 743.4 | 12–300 |
| LDH (mg/dL) | 449 | 350 | 388 | 369 | 233 | – | 180–430 |
| Total bilirubin (mg/dL) | 1.40 | 0.37 | 1.01 | 1.35 | 0.60 | – | 0.30–1.20 |
| Direct bilirubin (mg/dL) | 0.31 | 0.09 | – | 0.26 | – | – | 0.0–0.20 |
| Clinical signs and symptoms | Severe anemia, failure to thrive, splenomegaly | Mild/moderate anemia | Mild/moderate anemia | Mild anemia | Moderate anemia, menorrhagia | Mild anemia | – |