Genetics+Proj+CH

=__Genetics Project-Beta-Thalassemia__= AKA Cooley's Anemia

Chandler Hotchkiss


 * ===__What causes it?: Talk about the gene mutation (and which chromosome the gene is on) and the misformed protein and how this causes the disorder.__===
 * Also known as Cooley's anemia
 * Occurs when the body cannot make a very important protein called beta globin
 * The beta globin gene is on chromosome 11
 * Everyone receives two copies of it from their parents
 * Beta globin contains instructions on how to make proteins
 * A person with beta-thalassemia could have small changes-like one single letter change out of 1,600 letters of code


 * ===__How is it inherited? Show a Punnett square or a pedigree and tell us if it is autosomal dominant, autosomal recessive, or X-linked recessive__===
 * Have to have two mutated beta globin genes
 * The parents have the mutated gene (either have the disorder or are carriers) and pass it down
 * If you only have one mutated gene you will only have very minor symptoms
 * So, you really have to receive two mutated genes (one from each parent) to have the disorder (Autosomal recessive)
 * ===__How is it diagnosed?__===
 * Several blood tests determine whether the child has microcytic anemia
 * Usually common for new born baby tests
 * The blood is looked at under a microscope and is usually the cells are smaller than normal if the child has the disorder
 * They can also be pale, white, oddly-shaped, spiky, or elongated
 * There are multiple tests to determine the difference of cells
 * Another test measures the average weight of the hemoglobin within each cell
 * The third test measures the total concentration of hemoglobin in the blood
 * There are multiple tests to determine the difference of cells
 * Another test measures the average weight of the hemoglobin within each cell
 * The third test measures the total concentration of hemoglobin in the blood


 * ===__How is it treated?__===
 * Frequent blood transfusions
 * Spinectomy-spleen removal
 * Iron removal
 * especially from lungs
 * ===__What is it like to have it?__===
 * Pretty painful blood transfusions
 * Messes up weekly schedule (3-4 hour blood transfusions monthly)
 * Have to drink lots of water to keep veins pumping
 * more visible for transfusions and therefore less opportunity for pain
 * 3 week post transfusion affects
 * 1st week: very high energy ("bouncing off the walls")
 * 2nd week: normal energy
 * 3rd week: regressing energy, easily fatigued
 * Cannot play contact sports
 * Bones are weaker-easier to break
 * Have been scares that blood in transfusions are infected with HIV or hepatitis