Data for the 12 affected DBA patients analyzed in this study
| DBA patient . | Sex . | Age, mo* . | Hb, g/dL* . | Retic count, ×109/L* . | Hb, g/dL† . | Ferritin level, μg/L . | Malformations . | Mutated gene . | Treatment† . | Chelation . |
|---|---|---|---|---|---|---|---|---|---|---|
| UPN#591 | M | 4 | NA | NA | 6.9 | 3787 | No | RPS19 | T | Deferiprone + deferoxamine |
| UPN#892 | M | 2.5 | 3 | 0.96 | 8.8 | 3879 | No | RPS19 | T | Deferasirox |
| UPN#826 | M | 0.8 | 1.9 × 1012/L RBC | 0.19 | 13.1 | 750 | No | RPS19 | S | — |
| UPN#35 | F | 3 | 5.6 | NA | 9.3 | 1072 | Yes, hair anomaly prognathism | RPS19 | T | Deferoxamine |
| UPN#597 | M | 6 anemia reported; 60 (diagnosis confirmed on BM) | NA 5% (total EB) | NA | 14 | 295 | Yes, piebaldism, low hair implantation, short and webbed neck, pterygium colli, “café au lait” spots | RPL11 | S Metoclopramide good responder stop | — |
| UPN#1099 | M | 1 | 6 | 9 | 7.8 | 538 | No | RPL11 | T | Deferasirox |
| UPN#905 | F | 1 | 6.8 | 85.4 | 12 | 70 | No | RPS26 | S | — |
| UPN#590 | F | 7 anemia reported; 39 (diagnosis confirmed on BM) | NA | 1.668 | 7.6 | 692 | No | RPL5 | S | — |
| UPN#411 | F | 2 | 1.71 × 1012/L RBC | NA | 11 | 53 | Yes, cleft palate | RPL5 | S Metoclopramide good responder | — |
| UPN#412 | M | Birth | Anemia reported only | NA | 11.7 | 275 | Yes, supernumerary thumb | RPL5 | TI | — |
| UPN#845 | F | 2 | NA | NA | 4 | 274 | Yes, growth retardation | RPL5 | S | — |
| UPN#631 | F | 3 | NA | NA | 10.4 | 89 | Yes, short extremities | Exome in progress | TI | — |
| DBA patient . | Sex . | Age, mo* . | Hb, g/dL* . | Retic count, ×109/L* . | Hb, g/dL† . | Ferritin level, μg/L . | Malformations . | Mutated gene . | Treatment† . | Chelation . |
|---|---|---|---|---|---|---|---|---|---|---|
| UPN#591 | M | 4 | NA | NA | 6.9 | 3787 | No | RPS19 | T | Deferiprone + deferoxamine |
| UPN#892 | M | 2.5 | 3 | 0.96 | 8.8 | 3879 | No | RPS19 | T | Deferasirox |
| UPN#826 | M | 0.8 | 1.9 × 1012/L RBC | 0.19 | 13.1 | 750 | No | RPS19 | S | — |
| UPN#35 | F | 3 | 5.6 | NA | 9.3 | 1072 | Yes, hair anomaly prognathism | RPS19 | T | Deferoxamine |
| UPN#597 | M | 6 anemia reported; 60 (diagnosis confirmed on BM) | NA 5% (total EB) | NA | 14 | 295 | Yes, piebaldism, low hair implantation, short and webbed neck, pterygium colli, “café au lait” spots | RPL11 | S Metoclopramide good responder stop | — |
| UPN#1099 | M | 1 | 6 | 9 | 7.8 | 538 | No | RPL11 | T | Deferasirox |
| UPN#905 | F | 1 | 6.8 | 85.4 | 12 | 70 | No | RPS26 | S | — |
| UPN#590 | F | 7 anemia reported; 39 (diagnosis confirmed on BM) | NA | 1.668 | 7.6 | 692 | No | RPL5 | S | — |
| UPN#411 | F | 2 | 1.71 × 1012/L RBC | NA | 11 | 53 | Yes, cleft palate | RPL5 | S Metoclopramide good responder | — |
| UPN#412 | M | Birth | Anemia reported only | NA | 11.7 | 275 | Yes, supernumerary thumb | RPL5 | TI | — |
| UPN#845 | F | 2 | NA | NA | 4 | 274 | Yes, growth retardation | RPL5 | S | — |
| UPN#631 | F | 3 | NA | NA | 10.4 | 89 | Yes, short extremities | Exome in progress | TI | — |