An Overview on Sickle Cell Disease Profile

Sickle cell disease (SCD) is a very devastating condition caused by an autosomal recessive inherited haemoglobinopathy. This disease affects millions of peoples globally which results in serious complications due to vasoocclusive phenomenon and haemolysis. This genetic abnormality is due to substitution of amino acid valine for the glutamic acid at the sixth position of beta chain of haemoglobin. This disease was described about one hundred year ago. The haemoglobin S (hbS) produced as result of this defect is poorly soluble and polymerized when deoxygenated. Symptoms of sickle cell disease are due to chronic anaemia, pain full crises, acute chest syndrome, stroke and susceptibility to bacterial infection. In recent years measures like prenatal screening, better medical care, parent education, immunization and penicillin prophylaxis have successfully reduced morbidity and mortality and have increased tremendously life expectancy of affected individuals. Three principal current therapeutics modalities available for childhood SCD are blood transfusion, Hydroxy urea and bone marrow transplantation. Genetic counseling, continued medical education for health professionals about sickle cell disease, its complications and management is necessary. World health organization has actively promoted several national screening programms with dual goals of informing reproductive choice and thereby reducing the number of severely