sickle cell disease. hemoglobin protein made of many amino acids the sequence of amino acids is...
TRANSCRIPT
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Sickle Cell Disease
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Hemoglobin
Protein made of many amino acids The sequence of amino acids is
genetic coded by DNA Function to carry oxygen and other
compounds
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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
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www.vcbio.science.ru.nl/ images/cellcycle/mcel...
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http://fig.cox.miami.edu/~cmallery/150/chemistry/hemoglobin.jpg
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Normal Pathology
Inherit 2 copies of the gene called Alleles
When born have Hemoglobin F By 3 months replaced by Hemoglobin
A
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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
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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
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http://www.healthsystem.virginia.edu/internet/hematology/HessImages/Sickle-Cell-Disease-40x-website.jpg
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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
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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