lecture 14 sickle cell anemia

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Lecture 14 Sickle Cell Anemia November 8, 2002

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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 - PowerPoint PPT Presentation

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Page 1: Lecture 14 Sickle Cell Anemia

Lecture 14

Sickle Cell Anemia

November 8, 2002

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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

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Textbook Figure 6.6

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

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Textbook Figure 6.9AA

NlSS

sickleSC

intermAC C trait

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Textbook Figure 6.8

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Diagnosis of the sickle mutation using Southern blot analysis

Textbook Figure 6.10

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

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One single mutation in history accounts for Hb C

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

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% of SS and SC patients developing retinopathy

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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