Table 3.
Prevalence of α-thalassemia and G6PD deficiency observed in SPHERE participants
| Genotype | Clinical effect | Observation | Hydroxyurea | p value |
|---|---|---|---|---|
| α thalassemia, N (%) | n = 149 | n = 47 | ||
| 5 copies, αα/ααα | 1-gene duplication, unaffected | 1 (1) | 0 (0) | 0.133 |
| 4 copies, αα/αα | 0-gene deletion, unaffected | 64 (43) | 29 (62) | |
| 3 copies, αα/–α3.7 | 1-gene deletion, silent carrier | 60 (40) | 14 (30) | |
| 2 copies, -α3.7/-α3.7 | 2-gene deletion, trait | 20 (13) | 3 (6) | |
| Indeterminate | 1 (1) | 1 (2) | ||
| No sample tested | 3 (2) | 0 (0) | ||
| G6PD deficiency, N (%) | ||||
| Males (n = 93) | n = 71 | n = 22 | 0.737 | |
| B or A+ | Unaffected male | 59 (83) | 18 (82) | |
| A– | Affected male | 10 (14) | 4 (18) | |
| Indeterminate | ||||
| No result | 2 (3) | 0 (0) | 0.233 | |
| Females (n = 103) | n = 78 | n = 25 | ||
| BB, BA+, A+A+ | Homozygous wild type, unaffected | 54 (69) | 13 (52) | |
| BA–, A+A– | Heterozygous A– variant, carrier | 19 (24) | 9 (36) | |
| A–A– | Homozygous A– variant, affected | 3 (4) | 2 (8) | |
| Indeterminate | 1 (1) | 1 (4) | ||
| No sample tested | 1 (1) | 0 (0) |
G6PD, glucose-6-phosphate dehydrogenase.