Table 3 Presence and frequency of Hb F determining variants in Sri Lankan SCD patients
Locus | Variants | Position on chromosome | Allele change | Genotypes detected | Hb F boosting allele (Frequency) |
|---|---|---|---|---|---|
Chromosome 2 | |||||
BCL11A | rs6545816 | 60,568,365 | A > C | CC, n = 37 | C (88%) |
AC, n = 14 | |||||
rs1427407 | 60,571,547 | G > T | GG, n = 43 | T (12%) | |
GT, n = 14 | |||||
Chromosome 6 | |||||
HMIP-2A | rs66650371 | 135,460,326-135,460,328 | In > Del | II, n = 52 DI, n = 5 | Del (6%) |
DD, n = 1 | |||||
HMIP-2B | rs9402686 | 135,469,509 | G > A | GG, n = 52 | A (4%) |
GA, n = 4 | |||||
Chromosome 11 | |||||
Xmn I – HBG2 | rs7482144 | 5,232,745 | G > A | GG, n = 4 | A (47%) |
GA, n = 56 | |||||