“What is hereditary spherocytosis, and is there cure?”
Every one in two thousand people are diagnosed with hereditary spherocytosis. This rare blood disorder is of the Northern European ancestry. The prevalence of hereditary spherocytosis in people of other ethnic backgrounds is unknown (Government). This disease should be detected in early childhood, but in some rare cases it can go undetected for years or never be detected at all. The million dollar question is “What is hereditary spherocytosis and is there a cure?”
Hereditary spherocytosis is a disorder in the membrane of a red blood cell that causes the red blood cell to be shaped like spheres, instead of flat discs (Wint Carmella). When red blood cells start out they are shaped like flat discs. Over time when passing through the spleen pieces of the membrane are removed, causing the red blood cells to become round in shape, hence the term Spherocytosis (Seattle Childrens). When red blood cells enter the spleen the cells undergo hemolysis. Hemolysis in hereditary spherocytosis results in the interplay of an intact spleen and an intrinsic membrane protein defect (Medscape). The breakdown of red blood cells is called hemolytic anemia (Wint Carmella). A normal red blood cell can live up to one hundred and twenty days. A red blood cell with the membrane defect might live ten to thirty days. When the child develops low levels of red blood cells, it is because of the cells breaking down faster than they are being replenished. The body contains hemoglobin, which is a form of protein that carries oxygen around the body giving it to the cells that need it (Seattle Childrens). Children with hereditary spherocytosis do not go through the process because the cells are nearly destroyed. Genetics provide instructions for producing proteins that are found on the membrane of red blood cells (Government). Proteins transport molecules into and out of cells, they then attach to other proteins and maintain cell structure. This allows for the cells to be flexible when traveling from larger vessels to smaller vessels. Proteins make it so the red blood cell can change shape with out breaking (Government). When a person has hereditary spherocytosis he or she has mutations in at least five genes. (Government) Dysfunctional membrane proteins interfere with the cells ability to change shape when traveling through the blood vessels (Government). The red blood cells that are dysfunctional are removed from circulation and taken to the spleen for destruction. The spleens job is to clean the blood cells of bacteria and dead tissue (Wint Carmella). An abundance of red blood cells in the spleen and the shortage of cells in circulation are responsible for the signs and symptoms of hereditary spherocytosis.
Pale lips, skin, and nail beds, feeling tired or irritable, rapid heart beat, light headed, enlarged spleen, anemia, jaundice, and abdominal pain are the signs and symptoms of hereditary...