Table 2.
Clinical and biological characteristics of three children with sideroblastic anemia
| Patient 1 | Patient 2 | Patient 3 | |
|---|---|---|---|
| Age at symptom onset (years) | 11.7 | 4 | 0.5 |
| Age at diagnosis of sideroblastic anemia (years) | 11.8 | 7 | 13 |
| Gender | Male | Female | Male |
| Diagnosis |
MDS-RS ₍SF3B1 somatic mutation₎ |
SLC25A38 congenital SA SCL25A38:c.587 > C(p.Leu196Pro) | Sideroblastic anemia consistent with X-linked SA, NGS not done |
| Hemoglobin, g/dl | 8.6 | 4.4 | 7.2 |
| MCVb, fl | 82 | 59 | 56.5 |
| WBCc count, × 109/l | 8.540 | 7.300 | 5.140 |
| Platelets count, × 109/l | 540.000 | 345.000 | 236.000 |
| Reticulocyte, /mm3 | 60.000 | 7.625 | 19.800 |
| Serum ferritin, ng/ml | - | 169 | 321 |
| RBCd transfusion | No | Regular transfusion therapy for 5 years | occasionally (4 blood transfusions) |
| Peripheral blood smear | Anisocytosis Anisochromia, Poikilocytosis | Anisocytosis, microcytosis | Anisocytosis, Microcytosis, Hypochromia |
| Dysplasia on BMe | Multilineage | Dyserythropoiesis | Dyserythropoiesis |
| Ring sideroblasts, % on BMe smear | 45 | Not detected initially, then described as significantly Presentf | 53 |
| Blasts, % on BMe smear | 1 | Absent | 1 |
aMDS-RS Myelodysplatic syndrome with ring sideroblasts, bMCV Mean cell volume; cWBC White blood cell; dRBC Red blood cell; eBM Bone Marrow, f Percentage of ring sideroblasts not specified