Sickle_Cell_Anemia_and g6 pd deficiency Presentation.pptx

These are presentations on sickle cell anemia and g6pd deficiency

1. Sickle Cell Anemia An overview of causes, pathology, clinical features, and management.

2. Definition Sickle cell anemia is an inherited hemolytic anemia caused by a mutation in the β-globin gene, leading to the production of abnormal hemoglobin S.

3. Genetics & Pathophysiology • Autosomal recessive disorder • Mutation: substitution of valine for glutamic acid at position 6 of β-globin chain • HbS polymerizes under low oxygen → sickling of RBCs • Sickled cells cause hemolysis and vaso-occlusion

4. Types of Sickle Cell Disorders • Sickle cell trait (AS) – carrier, usually asymptomatic • Sickle cell disease (SS) – homozygous, severe • Compound heterozygotes – e.g., HbSC, HbS/β-thalassemia

5. Clinical Features • Pallor, jaundice (hemolysis) • Vaso-occlusive crises: pain in bones, chest, abdomen • Dactylitis in children • Splenomegaly initially → autosplenectomy later • Growth retardation, delayed puberty

6. Diagnosis • Peripheral smear: sickled cells, target cells • Sickling test (metabisulfite test) • Hemoglobin electrophoresis: confirms HbS • CBC: normocytic normochromic anemia

7. Complications • Acute chest syndrome • Stroke • Priapism • Leg ulcers • Increased infection risk (encapsulated bacteria) • Chronic organ damage (kidney, spleen)

8. Management • Folic acid supplementation • Hydration and pain control during crises • Hydroxyurea → increases HbF • Blood transfusions if severe anemia • Bone marrow transplant – curative option

9. Prevention & Genetic Counseling • Premarital screening and genetic counseling • Prenatal diagnosis via chorionic villus sampling • Avoid hypoxia, dehydration, and infections • Vaccination (Pneumococcal, H. influenzae, Meningococcal)

10. Summary Sickle cell anemia is a genetic disorder leading to sickling of RBCs. Early diagnosis, supportive care, and genetic counseling significantly improve prognosis.