SickleCellBackground

Sickle Cell Disease: The Background Information What does it mean to have sickle cell disease? Most people know that a cell is a small unit of living tissue and that a sickle is a tool used to cut down tall plants. Not as many may know that there is a disease with such a name. Sickle cell disease refers to a condition that causes the red blood cells to form sharp, sickled shape with sharp points and is found to cause damage throughout the body. Abbreviated SCD, the genetic disorder was first “discovered” in 1910 by a Dr. Ernest Irons, who had been working to figure out the cause of a dental student’s random bouts of pain and anemia. Upon analysis of the patient’s blood, the sickle shape of the cells in a blood sample and thus a new disease was found. The 1920’s brought the discovery that the sickle shape was caused by a lack of oxygen. Years later, in 1949, it was discovered that the disease was homozygous recessive making  it hereditary. SCD, though discovered back in 1910, did not actually origin ate in 1910. It had been around in Africa for thousands of years yet in the past 100 years, we have learned a lot about it. It is unfortunate that there is not yet a cure, but we have gained a lot of knowledge about what genes cause the disease, have researched multiple treatments and have found other diseases that could be linked and assist in finding a cure. Multiple sources have found the disease stems from multiple variations of one gene, Hb, which is the gene that codes for hemoglobin. Hemoglobin is the protein that allows for red blood cells to absorb oxygen. Different parts of hemoglobin do different things. For instance, there is a subunit that allows hemoglobin to clump with the red blood cells. Variants of the HBB gene such as Hb S (23andMe) cause the hemoglobin to form a sickle-like shape when lacking oxygen which in turn, changes the red blood cells to take the same shape and the sharp points to cause damage to vessels and organs. As anyone can imagine, this can cause a lot of damage and reduce the mortality of one who exhibits the disease. Not every case is fatal, but the median life expectancy was found to be between 42 and 48 years old (Sebastiani, et al. 2010). Not only does this variant cause the patient great pain but it also causes the red blood cells to die after only 30 days rather than the usual 120. This is where the anemia part comes to fruition.

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