Table 2.
Summary of allogeneic HSCT for unstable hemoglobinopathies.
| Reference | Age at SCT | Hb variant name Genotype |
Donor type | Hb level before SCT (g/L) | Preparative regimen | Manipulation of grafts | CD34+ infusion dose (cells/kg) |
Engraftment of neutrophil | Engraftment of platelet | Transplantation-related complications | Outcomes |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Urban et al. (35), | 18m | Hb Olmsted HBB:c.425T>G |
MSD | 55 | Bu,/Cy/ATG | Unmanipulated | 15.2×106 | +14d | +21d | None | 100% donor chimerism on +23d, disappearance of hepatosplenomegaly, and normal hemoglobin level |
| Croteau et al. (36), | 3y | Hb Boston-Kuwait HBB:c.421insT |
MSD | 74 | Bu/Cy/ATG | Unmanipulated | NR | +28d | +25d | NR | >97% donor chimerism on +60d and transfusion-independent |
| Kumar et al. (37), | 5y | Hb Hammersmith HBB:c.128T>C |
Haplo | NR | Flu/Bu/Cy/ TBI/RTX |
TCR αβ/CD19-depleted | 20.5×106 | +12d | NR | Grade 1 aGVHD CMV reactivation |
100% donor chimerism on +30d and symptom-free |
| Li et al. (22), | 15m | Hb Bristol-Alesha HBB:c.202G>A |
Haplo+ Cord |
60 | Flu/Bu/Cy | Unmanipulated | 6.8×106 | +11d | +18d | None | 95% donor chimerism on +30d and normal Hb level |
| Chan et al. (38), | 9y | Hb Hammersmith HBB:c.128T>C |
Haplo | NR | Flu/Cy/TT/ Treo/TLI |
TCR αβ/CD45RA-depleted | 110×106 | +19d* | +36d | EBV viremia Adenoviremia Grade 2 skin and gut aGVHD |
92% donor chimerism on +14d of the second SCT, durable engraftment by repeated DLIs, and transfusion-independent |
| Rizzuto et al. (21), | 4y | Hb Zunyi HBB:c.442T>C |
NR | 82 | – | – | – | – | – | – | Successful** |
| 3y | Hb Mokum HBB:c.442T>A |
NR | 79 | – | – | – | – | – | – | Successful** |
*The patient underwent two transplantations. The first transplantation resulted in acute graft rejection. Neutrophils engrafted on day 19 at the second transplantation.
** The details of HSCT were not documented.
(aGVHD, acute graft-versus-host disease; ATG, anti-thymocyte globulin; Bu, busulfan; Cy, cyclophosphamide; DLI, donor leukocyte infusion; Flu, fludarabine; HSCT, hematopoietic stem cell transplantation; MSD, matched sibling donor; NR, not reported; RTX, rituximab; SCT, stem cell transplantation; TBI, total body irradiation; Treo, treosulfan; TLI, total lymphoid irradiation; TT, thiotepa).