Table 2.
Detailed Results from All Patients with Thalassemia
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In vitro erythroid culture |
HPLC |
Apoptosis |
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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Non transduced |
Transduced |
Non transduced |
Transduced |
Non transduced |
Transduced |
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| Sample | Phenotype | Mutation | Source | MFI | % HbF cells | MFI | % HbF cells | increase in protein level | % increase in protein level | fold increase in RNA level | %HbF | %HbF | increase from HPLC | % increase from HPLC | MFI AnnV | % apoptotic cells | MFI AnnV | % apoptotic cells | decrease | % decrease | TSD efficiency | VCN/cell |
| Thal 3 | β+ | cd39/IVS1 n6 | BM | 100,0 | 40,0 | 130,0 | 47,0 | 0,3 | 30,0 | 75,0 | 20,0 | 32,0 | 0,6 | 60,0 | 145,0 | 56,0 | 72,0 | 50,0 | 0,1 | 10,7 | 30,0 | 2,2 |
| Thal 4 | β0 | IVS1 n1/IVS1 n1 | PB | 125,0 | 35,0 | 147,0 | 40,0 | 0,2 | 17,6 | 25,0 | 31,2 | 33,0 | 0,1 | 5,8 | 87,0 | 12,2 | 45,0 | 8,9 | 0,3 | 27,0 | 10,0 | 3,3 |
| Thal 5 | β+ | cd8/IVS1 n6 | PB | 525,0 | 53,0 | 610,0 | 57,0 | 0,2 | 16,2 | 22,0 | 19,2 | 22,0 | 0,1 | 14,6 | 223,0 | 87,9 | 14,0 | 48,1 | 0,5 | 45,3 | 60,0 | 1,1 |
| Thal 6 | β0 | cd39/cd5 | PB | 39,6 | 42,3 | 42,0 | 41,8 | 0,1 | 6,1 | 12,5 | 36,4 | 39,7 | 0,1 | 9,1 | 75,0 | 34,2 | 62,0 | 33,6 | 0,0 | 1,8 | 40,0 | 1,5 |
| Thal 11 | β+ | IVS1 n110/IVS1 n 6 | BM | 74,0 | 14,3 | 112,0 | 25,2 | 0,5 | 51,4 | 65,0 | 42,8 | 77,9 | 0,8 | 82,0 | 197,0 | 82,6 | 27,0 | 11,2 | 0,9 | 86,5 | 70,0 | 1,3 |
| Thal 12 | β0 | cd39/IVS2 n745 | PB | 110,0 | 27,8 | 113,0 | 31,1 | 0,0 | 2,7 | 24,8 | 18,8 | 24,5 | 0,3 | 30,3 | 16,3 | 21,5 | 13,5 | 19,6 | 0,1 | 8,8 | 10,0 | 0,6 |
| Thal 13 | β0 | IVS2 n1/IVS1 n1 | PB | 106,0 | 38,5 | 111,0 | 42,4 | 0,0 | 4,7 | 11,3 | 32,2 | 32,4 | 0,0 | 0,6 | 12,5 | 15,1 | 12,2 | 17,0 | 0,0 | 0,0 | 10,0 | 0,6 |
| Thal 17 | β+ | IVSI n110/ IVS1 n110 | PB | 299,0 | 31,8 | 312,0 | 35,0 | 0,0 | 4,3 | 45,0 | 13,8 | 19,5 | 0,4 | 41,3 | 202,0 | 51,3 | 95,5 | 41,1 | 0,2 | 19,9 | 85,0 | 2,1 |
| Thal 18 | β+ | IVS1 n110/cd39 | PB | 784,0 | 45,7 | 860,0 | 49,4 | 0,1 | 9,7 | 62,3 | 23,2 | 39,6 | 0,7 | 70,7 | 62,0 | 19,8 | 58,0 | 15,0 | 0,2 | 24,2 | 46,0 | 2,7 |
| Thal 19 | β0 | cd39/cd44 | PB | 469,0 | 47,6 | 480,0 | 49,1 | 0,0 | 2,3 | 28,7 | 48,8 | 69,7 | 0,4 | 42,8 | 69,8 | 34,4 | 38,7 | 16,4 | 0,5 | 52,3 | 26,6 | 1,1 |
| Thal 20 | β0 | IVS21-/cd39 | PB | - | - | - | - | - | - | - | 16,4 | 36,0 | 1,2 | 119,5 | 110,0 | 62,2 | 52,0 | 33,0 | 0,5 | 46,9 | 93,0 | 0,8 |
| Thal 21 | β0 | cd39/cd39 | PB | 691,0 | 41,0 | 902,0 | 42,0 | 0,3 | 30,5 | 32,0 | 23,9 | 30,7 | 0,3 | 28,5 | 54,4 | 22,5 | 53,0 | 21,0 | 0,1 | 6,7 | 21,4 | 0,3 |
| Thal 22 | β0 | IVS2 n745/ IVS2 n87 | PB | 85,5 | 43,6 | 86,0 | 56,0 | 0,0 | 0,6 | 12,5 | 25,4 | 37,2 | 0,5 | 46,5 | 58,0 | 17,0 | 43,6 | 11,8 | 0,3 | 30,6 | 53,3 | 1,5 |
| Thal 24 | β+ | IVS1 n110/cd39 | PB | 67,3 | 71,4 | 70,0 | 70,9 | 0,0 | 4,0 | 5,1 | 38,6 | 40,0 | 0,0 | 3,6 | 68,6 | 75,6 | 50,5 | 68,1 | 0,1 | 9,9 | 30,0 | 0,5 |
| Thal 28 | β0 | cd39/cd28 | PB | 48,1 | 76,2 | 49,0 | 79,3 | 0,0 | 1,9 | 12,3 | 14,8 | 15,7 | 0,1 | 6,1 | 57,8 | 67,2 | 57,6 | 62,2 | 0,1 | 7,4 | 40,0 | 0,5 |
| Thal 31 | β0 | cd39/δβ sic | PB | 54,2 | 36,5 | 75,0 | 62,1 | 0,4 | 38,4 | 42,0 | - | - | - | - | 334,0 | 72,3 | 18,3 | 9,0 | 0,9 | 87,6 | 66,7 | 0,9 |
| Thal 32 | β+ | IVSI n110/IVS1 n110 | PB | 52,4 | 68,0 | 71,2 | 73,0 | 0,4 | 35,9 | 40,0 | 24,1 | 25,8 | 0,1 | 7,1 | 88,3 | 17,3 | 62,9 | 7,0 | 0,6 | 59,5 | 34,3 | 0,5 |
| Thal 33 | β+ | IVSI n110/IVS1 n44 | PB | 2300,0 | 50,4 | 2390,0 | 51,4 | 0,0 | 3,9 | 15,5 | 32,0 | 35,5 | 0,1 | 10,9 | 87,0 | 44,0 | 81,0 | 42,0 | 0,0 | 4,5 | 25,0 | 0,4 |
| Thal 34 | β+ | cd39/IVS1 n6 | PB | 1750,0 | 58,0 | 1870,0 | 54,5 | 0,1 | 6,9 | 16,0 | 19,5 | 22,1 | 0,1 | 13,3 | 91,0 | 44,3 | 64,4 | 43,0 | 0,0 | 2,9 | 30,0 | 0,5 |
| Thal 35 | β+ | IVSI n1/IVSI n110 | PB | 98,3 | 77,0 | 101,0 | 74,0 | 0,0 | 2,7 | 5,7 | - | - | - | - | 94,1 | 19,0 | 83,0 | 17,0 | 0,1 | 10,5 | 24,0 | 0,4 |
| Average | 409,4 | 47,3 | 449,0 | 51,6 | 0,1 | 14,2 | 29,1 | 26,7 | 35,2 | 0,3 | 32,9 | 106,6 | 42,8 | 50,2 | 28,7 | 0,3 | 27,2 | 40,3 | 1,1 | |||
Note: Dashes indicate that the relevant assays were not done because of limited number of cells. BM, bone marrow; PB, peripheral blood; MFI, mean fluorescence intensity; AnnV, annexin-V; TSD, transduction; VCN, vector copy number.