Sickle Cell Mutations

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Mutations. A sad thing that some organisms have. Something that some organisms develop as a result of the alteration of single base units in DNA, or the deletion, insertion, or rearrangement of larger sections of genes or chromosomes. Mutations can result in lifelong diseases or disorders. Some mutations are good, some, mutations, not so good. Mutations can also be inherited, but most aren’t. Then some can be either inherited or de novo, a mutation that is not inherited from either parent. For example, Cancer is a disease that affects other genes and sometimes cells. Some other diseases/disorders include Sickle-cell Anemia, Alzheimer's, and Hemophilia; but one of the worst is cerebroatrophic hyperammonemia (later renamed Rett Syndrome.) 1997, …show more content…

Andreas Rett,(born January 2, 1924 in Furth) Germany noticed two girls, as they sat in his waiting room with their mothers, making similar repetitive hand-washing motions. Curious from what he observed, he compared these children’s clinical and developmental records and discovered that these children were very similar. Checking with his nurse and learning that he had six other girls with similar behaviors, Dr. Rett thought, “Surely ,all these girls must have the same disorder.” Not happy with having to study his own patients, he made a documentary of the girls and traveled all through Europe looking for more kids with these symptoms.
Then, in 1960, youthful female patients in Sweden with very comparable symptoms got the attention of their own doctor, Dr. Bengt Hagberg. Dr. Hagberg gathered the records of these young ladies and set them aside, planning to come back to them when he had more opportunity to study this inquisitive marvel.
Dr. Rett then published his discoveries in many German medical dictionaries, which was hardly normal reading for most of the the world’s medical community. Even after Dr. Rett published a description of the disease in English in 1977, Rett syndrome remained in the backwaters of medical concern: The pre-internet world lacked the electronic info highways taken for granted in the 21st Century. Then, April 25, 1997, in Vienna, Austria, Dr. Andreas Rett

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