These genetic studies have identified three known major HbF quantitative trait loci (QTLs) (Xmn1-HBG2, HBS1L-MYB intergenic region on chromosome 6q23, and BCL11A on chromosome 2p16) that account for 20–50% of the common variation in HbF levels in patients with SCA and β thalassemia, and in healthy adults (18-20). This evidence concerns the gene HBS1L and autosomal dominant cerebellar ataxia.