Abstract
Genetic studies identify common variants within the HBS1L-MYB intergenic region (HMIP), BCL11A, and Xmn1-HBG2 as associated with elevated fetal hemoglobin (HbF) levels and other clinically important human hematological traits. Recent studies suggest HbF is a predictor of outcome in MDS/AML patients receiving decitabine. We assessed effects of HbF genetic variants on hematological traits in Myeloproliferative Neoplasm (MPN), Myelodysplastic Syndrome (MDS) and myeloma on HbF-inducing therapy to determine potential for variants predicting treatment response. Seven common HbF variants at HMIP, BCL11A, Xmn1-HGB2 loci were genotyped in 89 patients with MPN on Hydroxyurea (HU), myeloma on Lenalidomide, and MDS on Azacytidine. HbF genetic association was seen with rs9494142 (HMIP) in MPN on HU (p = 0.04) and rs1427407 (BCL11A) in myeloma on Lenalidomide (p = 0.002). HMIP variants rs9494142 and rs6920211 influenced baseline platelets (p = 0.04) and hemoglobin treatment response (p = 0.02). rs1427407 (BCL11A) was significantly associated with increased platelets (p = 0.04) negating thrombocytopenic tendency of Lenalidomide. These HbF variants showed significantly discordant minor allele frequencies in MDS/MPN/myeloma compared to wider European population data. This small study finding together suggest the implication of these variants in treatment response and disease biology in MDS/MPN/myeloma warranting larger prospective genotype-phenotype association studies.
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