Sickle Cell Disease Essay

Genetics- Word Count: 214

Sickle cell disease is a genetic blood disorder that plagues millions of people all over the world, the highest concentration is found among people of Sub-Saharan African descent. Sickle cell disease is caused by a mutation in the HBB gene located on chromosome 11. Hemoglobin in red blood cells is how oxygen is delivered to cells throughout the body and is composed of four subunits, two subunits of alpha- globin and two of beta- globin. The HBB gene provides the instructions for making beta- globin. Sickle cell disease occurs when the HBB gene produces an abnormal version of beta- globin known as Hemoglobin S and replaces the original beta- globin subunit with the new version. These mutated versions of beta- globin
Children with sickle cell do not usually begin to display symptoms until they are about five to six months old. Common symptoms include fatigue, jaundice, and painful swelling of the hands and feet, also known as dactylitis. As the child gets older these symptoms may not dissipate but become worse and may include more serious problems such as delayed growth and puberty, acute and chronic pain, severe anemia, and an even longer list of different organ
Thanks to current funding and research, the life expectancy of an individual with sickle cell has seen a major increase and there are now more treatments to reduce hospital visits and early death. With an increase in funding, sickle cell research could expand to help more infected individuals and lead to major advancements in sickle cell research. As stated above, the trials using bone marrow and stem cell transplants have been able to cure a small number of adults. Other current research is looking for ways to reduce the risk of the more serious symptoms and evaluating the long- term effects of current medications and