Demographic characteristics and sickle cell disease genotypes of all participants enrolled in the SGP WGS study (N = 722)
| Variable . | Total (N = 722) . | SCCRIP (N = 372) . | BCM (N = 350) . | P . |
|---|---|---|---|---|
| Sex, N (%) | .43 | |||
| Male | 378 (52.35) | 193(51.88) | 185 (52.89) | |
| Female | 344 (47.65) | 179 (48.12) | 165 (47.14) | |
| Age (y),* (Mean, SD) | 6.06 (5.11) | 5.54 (4.50) | 6.63 (4.27) | .0009 |
| −α3.7 deletion | .99 | |||
| αα/αα (N, %) | 492 (68.14) | 253 (68.01) | 239 (68.29) | |
| −α3.7α/αα (N, %) | 200 (27.70) | 103 (27.69) | 97 (27.71) | |
| −α3.7α/−α3.7α (N, %) | 30 (4.16) | 16 (4.30) | 14 (4.00) | |
| Genotype (clinical), N (%)† | .0069 | |||
| HbSS | 684 (94.74) | 344 (92.47) | 340 (97.14) | |
| HbSβ0-thalassemia | 38 (5.26) | 28 (7.53) | 10 (2.86) | |
| Genotype (WGS), N (%)‡ | .35 | |||
| HbSS | 698 (96.7) | 359 (96.5) | 339 (96.9) | |
| HbSβ0-thalassemia | 23 (0.03) | 13 (3.5) | 10 (2.9) | |
| HbSβ+-thalassemia | 1 (0.001) | 0 (0) | 1 (0.3) |
| Variable . | Total (N = 722) . | SCCRIP (N = 372) . | BCM (N = 350) . | P . |
|---|---|---|---|---|
| Sex, N (%) | .43 | |||
| Male | 378 (52.35) | 193(51.88) | 185 (52.89) | |
| Female | 344 (47.65) | 179 (48.12) | 165 (47.14) | |
| Age (y),* (Mean, SD) | 6.06 (5.11) | 5.54 (4.50) | 6.63 (4.27) | .0009 |
| −α3.7 deletion | .99 | |||
| αα/αα (N, %) | 492 (68.14) | 253 (68.01) | 239 (68.29) | |
| −α3.7α/αα (N, %) | 200 (27.70) | 103 (27.69) | 97 (27.71) | |
| −α3.7α/−α3.7α (N, %) | 30 (4.16) | 16 (4.30) | 14 (4.00) | |
| Genotype (clinical), N (%)† | .0069 | |||
| HbSS | 684 (94.74) | 344 (92.47) | 340 (97.14) | |
| HbSβ0-thalassemia | 38 (5.26) | 28 (7.53) | 10 (2.86) | |
| Genotype (WGS), N (%)‡ | .35 | |||
| HbSS | 698 (96.7) | 359 (96.5) | 339 (96.9) | |
| HbSβ0-thalassemia | 23 (0.03) | 13 (3.5) | 10 (2.9) | |
| HbSβ+-thalassemia | 1 (0.001) | 0 (0) | 1 (0.3) |
P values for comparisons between SCCRIP and BCM participants for sex and genotype were determined by Fisher’s exact tests. P value for age was determined by Student t test. Significant P values (P < .05) are bold.
Age at which blood counts, erythroid indices, and HbF were recorded for this study (see supplemental Table 1).
Genotype obtained from the medical record.
Genotype determined by WGS in this study. Of 684 individuals with a clinical diagnosis of HbSS, 4 were found by WGS to have HbSβ0-thalassemia (3 with splice acceptor mutation HBB c.316-2A>G, and 1 with the Filipino β-thalassemia deletion). Of 38 individuals with a clinical diagnosis of HbSβ0-thalassemia, 18 were found by WGS to have HbSS and 1 had HbSβ+-thalassemia (Figure 2C; supplemental Figure 2).