Prevalence and Impact of HMOX1 Polymorphism (rs2071746: A > T) in Indian Sickle Cell Disease Patients

Abstract Background Fetal hemoglobin (HbF) levels play significant role in lowering down the morbidity and mortality sickle cell disease (SCD) patients. Coinheritance of heme oxygenase-1 (HMOX1) rs2071746:A > T polymorphism may contribute to variable HbF Indian SCD Aim Objective This study was aimed evaluate HMOX1 its impact on level Materials Methods One-hundred twenty confirmed cases 50 healthy controls were recruited. Their mean age 11.5 ± 8.6 years (range: 3–23 years). Quantification Hb, HbA2, HbF, HbS done by capillary zone electrophoresis. Allele-specific polymerase chain reaction used genotype (rs2071746:A T) gene polymorphism. Results Out 120 SCD, 65 sickle-shaped (HbSS) 55 sickle-beta thalassemia (Sβ). HbSS patients, 29 (44.6%) heterozygous (AT), 20 (30.76%) homozygous (TT), 16 (24.61%) found wild-type (AA) genotype. Sβ, 22 (40%) heterozygous, 18 (32%) 15 (28%) wild-type. Patients carrying T), AT, TT genotypes had less anemia, painful crisis, splenomegaly, hepatomegaly, jaundice, blood transfusion. higher (in 25.1 4.4; 36.1 4.7) than wild-type(AA) statistically (p-value <0.001). Conclusion The associated with increased Hb F (p < 0.001). It can serve as a modifier diseases