sickle cell disease
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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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Presentation Transcript
hemoglobin
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
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
normal pathology
Normal Pathology
  • Inherit 2 copies of the gene called Alleles
  • When born have Hemoglobin F
  • By 3 months replaced by Hemoglobin A
sickle cell
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
sickle cell continued
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
slide9
http://www.healthsystem.virginia.edu/internet/hematology/HessImages/Sickle-Cell-Disease-40x-website.jpg
problems
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
treatment
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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