Summary of the association with the amelioration of β0-thalassemia
| SNP/locus . | Allele . | Frequency of thalassemia major . | Frequency of thalassemia intermedia . | P . | OR (95% confidence interval) . |
|---|---|---|---|---|---|
| rs11886868/BCL11A | C | 0.21 | 0.48 | < .001 | 5.15 (2.46-12.06) |
| rs9389268/HBS1L-MYB | G | 0.15 | 0.35 | < .001 | 4.61 (2.18-10.76) |
| HBA* | − | 0.25 | 0.52 | < .001 | 3.32 (1.75-6.80) |
| SNP/locus . | Allele . | Frequency of thalassemia major . | Frequency of thalassemia intermedia . | P . | OR (95% confidence interval) . |
|---|---|---|---|---|---|
| rs11886868/BCL11A | C | 0.21 | 0.48 | < .001 | 5.15 (2.46-12.06) |
| rs9389268/HBS1L-MYB | G | 0.15 | 0.35 | < .001 | 4.61 (2.18-10.76) |
| HBA* | − | 0.25 | 0.52 | < .001 | 3.32 (1.75-6.80) |
For each marker, we reported the minor allele with the correspondent frequency on the 2 groups of patients, the P value for allelic differences, and the odds ratio. For the HBA locus, genotypes have been coded as 0, 1, or 2 according to the number of mutated copies of the HBA gene. Because of small counts, persons with −α/αHphIα and −α/αNcoIα have been grouped with −α/−α, and αNcoIα/αα with −α/αα.
The allele − indicates one mutated copy.