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Lecture 14 Sickle Cell Anemia

Lecture 14 Sickle Cell Anemia. November 8, 2002. Learning Objectives. Understand the molecular basis of sickle cell anemia and how to make a diagnosis Begin to recognize the clinical features sickle cell anemia

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Lecture 14 Sickle Cell Anemia

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  1. Lecture 14Sickle Cell Anemia November 8, 2002

  2. Learning Objectives • Understand the molecular basis of sickle cell anemia and how to make a diagnosis • Begin to recognize the clinical features sickle cell anemia • Know that Hgb S is a balanced polymorphism, and understand the meaning of a haplotype. • Know the conditions that facilitate sickling • Understand why patients with sickle cell who co-inherit thalassemia trait will have a milder course

  3. Textbook Figure 6.6

  4. Cellulose acetate electrophoretic patterns for common hemoglobinopathies from the Red Cell Manual

  5. SC interm AC C trait Textbook Figure 6.9 SS sickle AANl

  6. Textbook Figure 6.8

  7. Diagnosis of the sickle mutation using Southern blot analysis Textbook Figure 6.10

  8. Hb S only occurs on 4 haplotypes…only occurred 4 times in history

  9. One single mutation in history accounts for Hb C

  10. Hb S is a balanced polymorphism * homozygotes (1 in 500) are selected against * heterozygotes (1 in 12) are selected for

  11. % of SS and SC patients developing retinopathy

  12. Summary • Understand the molecular basis of sickle cell anemia and how to make a diagnosis • Begin to recognize the clinical features sickle cell anemia • Know that Hgb S is a balanced polymorphism, and understand the meaning of a haplotype. • Know the conditions the facilitate sickling • Understand why patients with sickle cell who co-inherit thalassemia trait will have a milder course

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