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Sickle cell disease and its treatment

Source: www.thalassaemia.org.cy
Topic: Sickle Cell Disease
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Sort Desciption: Sickle cell disease aims of. treatment. Prevention of problems before they arise ... Sickle cell disease goals. of treatment. Patient self ...

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Dr Bernard Davis Whittington Hospital London Sickle cell disease Homozygous HbSS Sickle cell/Hb C HbSC Sickle cell/ 0 thal HbS 0 Sickle cell/ + thal HbS + Sickle cell/ Hb D PUNJAB HbS D PUNJAB Sickle cell/ Hb O ARAB Hb S O ARAB Sickle cell/Hb Lepore Boston Sickle haemoglobin The most significant structural haemoglobinopathy Substitution of valine for glutamic acid at 6 Clinical consequences are the result of its tendency to polymerise Pathophysiological mechanisms HbS polymerisation Damage to and intracellular dehydration of red cells Endothelial damage and adherence Inflammation resulting from oxidant damage Clinical consequences Haemolysis Vaso-occlusion Lung disease Renal disease CNS disease Retinopathy Hyposplenism Bone infarction Avascular necrosis Priapism Anaemia Jaundice Gallstones Bone marrow expansion Transient red cell aplasia Leg ulcers Highly variable phenotype Delayed growth and puberty HbF levels -gene cluster haplotype -thalassaemia Other Sickle cell disease aims of treatment Prevention of problems before they arise Antenatal and neonatal screening programmes Pneumococcal prophylaxis Education healthy lifestyle, avoid precipitating factors Effective management of psychosocial problems Prediction of adverse outcomes Treatment of problems as and when they arise Effective treatment of acute and chronic complications Sickle cell disease goals of treatment Patient self-management Healthy living Reduced hospital dependence Reduced morbidity Normal life expectancy Sickle cell disease approaches to treatment Symptomatic amelioration of disease Blood transfusion Inhibit HbS polymerisation hydroxyurea Prevent/reverse intracellular RBC dehydration Prevent cell-cell adhesive interactions Minimise oxidant damage Curative Bone marrow transplantation Gene therapy Sickle cell disease Sickle cell is a complex, multi-system disease Clinical course highly variable Complications can arise ...

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