Characterization of the 8 IBT-study patients with transfusion-dependent homozygous β-thalassemia
Patient no. . | Duration of treatment (d) . | Sex . | Age (y) . | Country of origin . | DFO (mg/kg per day) . | Ferritin*(μg/L) . | anti-HCV +/− . | β-globin mutation . | Gγ-158 C → T . | Parental HbF (%) . | |
---|---|---|---|---|---|---|---|---|---|---|---|
Mother† . | Father . | ||||||||||
1 | 224 | M | 8 | Turkey | 35 | 1969 (1618-2140) | − | IVS1 + 110 G → A/ IVS1 + 110 G → A | +/+ | <0.5 | <0.5 |
2 | 384 | M | 13 | Turkey | 25 | 3858 (3360-4520) | + | NS39/NS39 | −/− | 1.3 | <0.5 |
3 | 224 | F | 19 | Turkey | 55 | 1493 (1290-1772) | − | IVS1 + 110 G → A/ FS8/9(+G) | −/− | <0.5 | <0.5 |
4 | 224 | F | 25 | Greece | 75 | 2325 (1120-3409) | − | IVS1 + 110 G → A/ IVS2 + 745 C → G | −/− | <0.5 | <0.5 |
5 | 370 | M | 17 | Jordan | 75 | 3702 (2680-4293) | + | NS37/−86 C → G | −/− | 1.9 | 0.6 |
6 | 126 | M | 24 | Turkey | 75 | 9117 (6424-9864) | + | — | — | — | — |
7 | 224 | F | 14 | Turkey | 60 | 1453 (1270-1849) | + | IVS1 + 110 G → A/ IVS2 + 1 G → A | +/− | <0.5 | 0.9 |
8 | 224 | M | 20 | Turkey | 35 | 6881 (4730-9026) | + | NS39/IVS2 + 1 G → A | +/− | <0.5 | <0.5 |
Patient no. . | Duration of treatment (d) . | Sex . | Age (y) . | Country of origin . | DFO (mg/kg per day) . | Ferritin*(μg/L) . | anti-HCV +/− . | β-globin mutation . | Gγ-158 C → T . | Parental HbF (%) . | |
---|---|---|---|---|---|---|---|---|---|---|---|
Mother† . | Father . | ||||||||||
1 | 224 | M | 8 | Turkey | 35 | 1969 (1618-2140) | − | IVS1 + 110 G → A/ IVS1 + 110 G → A | +/+ | <0.5 | <0.5 |
2 | 384 | M | 13 | Turkey | 25 | 3858 (3360-4520) | + | NS39/NS39 | −/− | 1.3 | <0.5 |
3 | 224 | F | 19 | Turkey | 55 | 1493 (1290-1772) | − | IVS1 + 110 G → A/ FS8/9(+G) | −/− | <0.5 | <0.5 |
4 | 224 | F | 25 | Greece | 75 | 2325 (1120-3409) | − | IVS1 + 110 G → A/ IVS2 + 745 C → G | −/− | <0.5 | <0.5 |
5 | 370 | M | 17 | Jordan | 75 | 3702 (2680-4293) | + | NS37/−86 C → G | −/− | 1.9 | 0.6 |
6 | 126 | M | 24 | Turkey | 75 | 9117 (6424-9864) | + | — | — | — | — |
7 | 224 | F | 14 | Turkey | 60 | 1453 (1270-1849) | + | IVS1 + 110 G → A/ IVS2 + 1 G → A | +/− | <0.5 | 0.9 |
8 | 224 | M | 20 | Turkey | 35 | 6881 (4730-9026) | + | NS39/IVS2 + 1 G → A | +/− | <0.5 | <0.5 |