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Sickle Cell Anemia 1) Single nucleotide substitution (“point mutation”) in the gene for the beta chain of hemoglobin. 3) Beta chain synthesized from the.

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Presentation on theme: "Sickle Cell Anemia 1) Single nucleotide substitution (“point mutation”) in the gene for the beta chain of hemoglobin. 3) Beta chain synthesized from the."— Presentation transcript:

1 Sickle Cell Anemia 1) Single nucleotide substitution (“point mutation”) in the gene for the beta chain of hemoglobin. 3) Beta chain synthesized from the sickle-cell allele does not “fold” correctly and hempglobin molecules “clump” together forming a red blood cell that resembles a sickle. 2) Different amino acid gets placed in the peptide chain.. 4) Sickled cells die early (10-20 days vs. 120 days) producing anemia. 5) Sickled cells clog the fine capillaries, leading to lack of oxygen in target organs.

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3 Rapid breakdown of sickled cells Hemoglobin molecules “clump” Sickle-shape red blood cells Skeletal problems Impeded circulation Organ damage Pain Infection risk Overactive bone marrow Fatigue Impaired development Anemia

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7 Why is SCA so common in some areas?

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9 Different origins (independent mutations) of the SCD allele


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