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

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 6 th amino acid of both beta chains

Sickle Cell continued Under certain conditions such as low O 2, 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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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 Antibiotics started very early in children Transfusions Drugs to Aid in production of Hemoglobin F  Hydroxyurea  Butyrate IV dose and oral tablets per day Pulse therapy Bone Marrow Transplantation