Correlation between disease-causing mutations of the HBB gene and Hb F levels in all 1142 patients with β-thalassemia
| HBB mutation . | HGVS name . | Genotype (β+or β0) . | No. of subjects . | MAF (%) . | Mean Hb F level of carriers (g/L) . | Mean Hb F level of noncarriers (g/L) . | Mean first transfusion time of carriers (mo) . | Mean first transfusion time of noncarriers (mo) . | P value∗ . |
|---|---|---|---|---|---|---|---|---|---|
| CD41-42 | HBB:c.126_129delCTTT | β0 | 720 | 39.4 | 13.1 | 17.2 | 15.2 | 27.1 | <.0001 |
| CD17 | HBB:c.52A>T | β0 | 481 | 25.3 | 13.8 | 15.5 | 17.5 | 21.5 | .1378 |
| CD71-72 | HBB:c.216_217insA | β0 | 94 | 10.7 | 10.6 | 15.0 | 15.8 | 19.9 | .0063 |
| IVS-II-654 | HBB:c.316-197C>T | β0 | 216 | 10.1 | 12.9 | 15 | 14.1 | 20.9 | .0528 |
| IVS-I-1 | HBB:c.92+1G>T | β0 | 46 | 2.2 | 22.3 | 14.3 | 7.2 | 18.8 | .0005 |
| CD43 | HBB:c.130G>T | β0 | 22 | 1 | 26.7 | 14.4 | 35.9 | 19.3 | .0002 |
| CD27-28 | HBB:c.84_85insC | β0 | 6 | 0.5 | 52.4 | 14.5 | 58 | 19.4 | <.0001 |
| -28 | HBB:c.-78A>G | β+ | 204 | 9.4 | 21.1 | 13.2 | 27.25 | 17.96 | <.0001 |
| -29 | HBB:c.-79A>G | β+ | 25 | 5.2 | 21.4 | 14.5 | 40.72 | 19.15 | .0237 |
| IVSII-5 | HBB:c.315+5G>C | β+ | 15 | 0.7 | 12.9 | 14.7 | 90 | 18.7 | .6512 |
| HBB mutation . | HGVS name . | Genotype (β+or β0) . | No. of subjects . | MAF (%) . | Mean Hb F level of carriers (g/L) . | Mean Hb F level of noncarriers (g/L) . | Mean first transfusion time of carriers (mo) . | Mean first transfusion time of noncarriers (mo) . | P value∗ . |
|---|---|---|---|---|---|---|---|---|---|
| CD41-42 | HBB:c.126_129delCTTT | β0 | 720 | 39.4 | 13.1 | 17.2 | 15.2 | 27.1 | <.0001 |
| CD17 | HBB:c.52A>T | β0 | 481 | 25.3 | 13.8 | 15.5 | 17.5 | 21.5 | .1378 |
| CD71-72 | HBB:c.216_217insA | β0 | 94 | 10.7 | 10.6 | 15.0 | 15.8 | 19.9 | .0063 |
| IVS-II-654 | HBB:c.316-197C>T | β0 | 216 | 10.1 | 12.9 | 15 | 14.1 | 20.9 | .0528 |
| IVS-I-1 | HBB:c.92+1G>T | β0 | 46 | 2.2 | 22.3 | 14.3 | 7.2 | 18.8 | .0005 |
| CD43 | HBB:c.130G>T | β0 | 22 | 1 | 26.7 | 14.4 | 35.9 | 19.3 | .0002 |
| CD27-28 | HBB:c.84_85insC | β0 | 6 | 0.5 | 52.4 | 14.5 | 58 | 19.4 | <.0001 |
| -28 | HBB:c.-78A>G | β+ | 204 | 9.4 | 21.1 | 13.2 | 27.25 | 17.96 | <.0001 |
| -29 | HBB:c.-79A>G | β+ | 25 | 5.2 | 21.4 | 14.5 | 40.72 | 19.15 | .0237 |
| IVSII-5 | HBB:c.315+5G>C | β+ | 15 | 0.7 | 12.9 | 14.7 | 90 | 18.7 | .6512 |
The HBB [NM_000518 (HBB_v001)] genotype categories are defined as follows (β0): HBB:c.126_129delCTTT (39.4%), HBB:c.52A>T (25.3%), HBB:c.316-197C>T (10.1%), HBB:c.216_217insA (4.1%), HBB:c.92+1G>T (2.2%), HBB:c.130G>T (1.0%), HBB:c.84_85insC (0.5%), HBB:c.91A>G (0.1%), HBB:c.45_46insC (0.1%), HBB:c.165_177delTATGGGCAACCCT (0.1%), HBB:c.315+1G>A (0.1%), HBB:c.287_288insA (0.1%), HBB:c.113G>A (0.1%), HBB:c.93-1G>C (0.1%); (β+): HBB:c.-78A>G (9.4%), HBB:c.79G>A (5.2%), HBB:c.315+5G>C (0.7%), HBB:c.-140C>T (0.1%), HBB:c.-81A>C (0.1%), and HBB:c.92+5G>C (0.1%).
A Student t test of the 1142 patients with β-thalassemia was implemented in Perl (version 5.16.3) to compare the mean Hb F levels between the carrier and noncarrier groups of each HBB variant.
HGVS, Human Genome Variation Society; MAF, minor allele frequency.