Case Series of Sickle Cell Disease with Spectrum of Clinical Presentation

Sickle cell disease (SCD) is a genetic disorder autosomal-recessive in nature effecting millions worldwide.Replacement of hydrophilic Glutamic acid (Glu) with hydrophobic Valine (Val) at the sixth position in the β-globin chainforming a mutated hemoglobin (Hb) tetramer HbS,causing distortion of the erythrocyte membrane.This leads to erythrocyte sickling.Deoxygenated HbS tetramersbind to each otherinitiating the nucleation of HbS polymer.These polymers grow & form long fibers.HbS causes cellular energetic failure, premature hemolysis, dehydration & stress.Authors, here presented Three (03) Cases of Sickle cell disease with spectrum of clinical presentation.First case was case of Sickle Cell Trait with severe anemia showing Sickle Window of 15.7 %, HbF<0.8%,HbA2-2.6%,HbA0-71.6%.Second case was case Co-Inheritance of Sickle cell trait and Beta Thalassemia Trait with severe anemia in obstructed labour showing S-window 16.3%, HbA2-5.8%,HbF<0.8%,Hb A0-67.3%.Third case was case of a Sickle cell anemiashowing S-window 73.2%, HbA2-2.5 %, , Hb A0-4.1 %.