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Table 3 Presence and frequency of Hb F determining variants in Sri Lankan SCD patients

From: Sickle cell disease in Sri Lanka: clinical and molecular basis and the unanswered questions about disease severity

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