Table 1 |.
Patient Characteristics
| Patient ID | Patient 1 | Patient 2 | Patient 3 | Patient 4 |
|---|---|---|---|---|
| Age at cell infusion (years) | 23 | 18 | 39 | 18 |
| Sex | F | F | M | M |
| Genotype | β0/β+ | β0/β+ | β0/β0 | β0/β+ |
| Mutation | cod39/IVSI-110 | cod39/IVSI-6 | cod39/cod39 | cod39/IVSI-110 |
| Transfusion requirement (ml/kg/year) | 203 | 214 | 177 | 271 |
| Chelation | DFX | DFO + DFP | DFP | DFO |
| Serum ferritin (ng/ml) | 1217 | 2477 | 838 | 1739 |
| Cardiac T2* by MRI (ms) | 41 | 44 | 32 | 35 |
| LIC (mg Fe per g dw) | 14.8 | 15.6 | 11.7 | 15.8 |
| Liver fibrosis | minimal | no | no | no |
| Splenectomy | no | yes | no | no |
| HCV | negative | negative | serology pos, RNA negative | negative |
F, female; M, male; Transfusion requirements prior to infusion expressed as volume in ml per body weight (in kg) per year, mean annual volume over the last 5 years prior to gene therapy; DFX: deferasirox, DFO: desferrioxamine, DFP: deferiprone; ms, milliseconds; LIC, liver iron concentration in mg of Fe (iron) per g dw (dry weight), estimated by T2* liver MRI; Liver fibrosis evaluation: liver biopsie in patient 1 and via fibroscan in patient 2–4.