Sickle+Cell+Anemia+and+Hemophilia

​ It's in Your Genes- An examination of Sickle Cell Anemia and Hemophilia A

Krysta Lewis and Stephanie Isola May 18, 2010



The purpose of this research is to analyze genetically transmitted diseases, specifically sickle cell anemia  and hemophilia A to better understand the passing down of mutated genes through family genetics. Sickle cell anemia is passed down to thousands of people every year, prominently African Americans. While, hemophilia A is only passed down to a few hundred people each year in the United States and is most transmitted to males. These analyses provide an in-depth examination of sickle cell anemia and hemophilia A, how the genes are passed down, as well as the causes, symptoms, diagnosis, prognosis and treatments.
 * Abstract: **


 * Introduction: **Genetics are the work of both science and history that tells the story of the biological makeup of human life. As we have learned in class, DNA is the thread of human life which composed of thousands of genes. Genes provide a blueprint for the biological structure of all living organisms on Earth. “A gene is any given segment along DNA that encodes instructions that allow a cell to produce a specific product that initiates one specific action” (Massimini, 2000, pg. 5). Variations in an individual’s genetic sequence can result in genetic diseases. These variations can either be passed down from a parent or acquired through a gene mutation.

Although some genetic disorders can be acquired during one’s lifetime, it is a disturbance to acknowledge that most are prominently inherited through family lineage. It is a sad reality that the victims of genetically transmitted diseases have no control over the inheritance of mutated gene. “More than 4,000 diseases are thought to stem from mutated genes inherited from one’s mother and/or father” (Massimini, 2000, pg. 3). Mutations in genes are often a result of an error in the base sequence of DNA. These new variants are then passed down from a parent to offspring. Some mutations are silent and have no effect on an individual’s functionality, while others are outwardly expressed. Individuals with expressive characteristics have inherited the mutation in one of two ways: the dominant gene from one (or both) parents for the disease or recessive genes from each parent. In order to better understand genetically transmitted diseases, we have thoroughly analyzed the symptoms, transmission, diagnosis, and treatment of Sickle Cell Anemia and Hemophilia A.