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Sickle Cell Disease

Sickle Cell Disease. Hemoglobin. Protein made of many amino acids The sequence of amino acids is genetic coded by DNA Function to carry oxygen and other compounds. Genetic Process. DNA contains compounds called bases– adenine, thymine, guanine and cytosine– in a genetic coded sequence

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Sickle Cell Disease

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  1. Sickle Cell Disease

  2. Hemoglobin • Protein made of many amino acids • The sequence of amino acids is genetic coded by DNA • Function to carry oxygen and other compounds

  3. Genetic Process • DNA contains compounds called bases– adenine, thymine, guanine and cytosine– in a genetic coded sequence • mRNA– matches up to those bases and reads the message– where an adenine/thymine, guanine/uracil etc • Moves to cytoplasm of cell and waits for t-RNA carrying the amino acid to find the right sequence and drop off its amino acid

  4. www.vcbio.science.ru.nl/ images/cellcycle/mcel...

  5. http://fig.cox.miami.edu/~cmallery/150/chemistry/hemoglobin.jpghttp://fig.cox.miami.edu/~cmallery/150/chemistry/hemoglobin.jpg

  6. Normal Pathology • Inherit 2 copies of the gene called Alleles • When born have Hemoglobin F • By 3 months replaced by Hemoglobin A

  7. Sickle Cell • Caused by a SNP– single nucleotide polymorphism • DNA has Adenine (A base) replaced by Thymine (T base) • So Code is GTG instead of GAG • Valine get put in place of Glutamic acid in 6th amino acid of both beta chains

  8. Sickle Cell continued • Under certain conditions such as low O2 , the hemoglobin molecules stick together or polymerize • Stretches the Red Blood Cells to look like a “sickle” • Affects about 8-11% of African Americans

  9. http://www.healthsystem.virginia.edu/internet/hematology/HessImages/Sickle-Cell-Disease-40x-website.jpghttp://www.healthsystem.virginia.edu/internet/hematology/HessImages/Sickle-Cell-Disease-40x-website.jpg

  10. Problems • Cells can’t move thru microvessels • Blood get thick or viscous • Spleen removes the defective cells • Stroke • Infections • Difficulty breathing • Pain • Organ failure or damage

  11. Treatment • Antibiotics started very early in children • Transfusions • Drugs to Aid in production of Hemoglobin F • Hydroxyurea • Butyrate • IV dose and oral 30-40 tablets per day • Pulse therapy • Bone Marrow Transplantation

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