Clinical and hematological characteristics of the family members
| Patient . | Age at diagnosis (y) . | Hb (g/dL) . | RBC (×1012/L) . | MCV (fL) . | WBC (×109/L) . | Platelets (×109/L) . | Ferritin (ng/mL) . | TS (%) . | RS (%) . | Karyotype . | ALAS2 mutation . | Skewed XCI . | RBC transfusion dependency . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SA1 (proband) | 42 | 6.3 | 1.65 | 112.2 | 5.28 | 297 | 318 | 89.6 | 12 | 46,XX [20] | R227C | Yes | Yes |
| SA2 (younger sister) | 40 | 5.9 | 1.67 | 112 | 3.18 | 264 | 645.7 | 90.3 | 18 | 46,XX [20] | R227C | Yes | Yes |
| SA3 (mother) | 70 | 9.1 | 2.38 | 110.9 | 5.5 | 357 | 263.1 | 77.3 | 17 | 46,XX [20] | R227C | Yes | No |
| Patient . | Age at diagnosis (y) . | Hb (g/dL) . | RBC (×1012/L) . | MCV (fL) . | WBC (×109/L) . | Platelets (×109/L) . | Ferritin (ng/mL) . | TS (%) . | RS (%) . | Karyotype . | ALAS2 mutation . | Skewed XCI . | RBC transfusion dependency . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SA1 (proband) | 42 | 6.3 | 1.65 | 112.2 | 5.28 | 297 | 318 | 89.6 | 12 | 46,XX [20] | R227C | Yes | Yes |
| SA2 (younger sister) | 40 | 5.9 | 1.67 | 112 | 3.18 | 264 | 645.7 | 90.3 | 18 | 46,XX [20] | R227C | Yes | Yes |
| SA3 (mother) | 70 | 9.1 | 2.38 | 110.9 | 5.5 | 357 | 263.1 | 77.3 | 17 | 46,XX [20] | R227C | Yes | No |
Hb, hemoglobin; RBC, red blood cell; RS ring sideroblasts; MCV, mean corpuscular volume; TS, transferrin saturation; WBC, white blood cells XCI, X chromosome inactivation.