Assignment: Dysfunctional Membrane Proteins
Individuals with a mild form of anemia at times a person might not show any symptom at all. On the other hand, individuals with a moderate type of hereditary spherocytosis show symptoms such as jaundice, anemia and splenomegaly. Llaudet‐Planas states “The signs and symptoms of moderate hereditary spherocytosis usually appear in childhood. Individuals with the moderate/severe form have all the features of the moderate form but also have severe anemia” (Llaudet‐Planas et al. 2018). Moreover, people who have the severe form of hereditary spherocytosis tends to suffer from adverse anemia, jaundice and frequently requires a blood transfusion to constant supply red blood cells. The severe form can lead to the development of threatening gallstones. More so, people who have severe form tend to be short in stature, develop skeletal abnormalities and end up having delayed sexual development.
Hereditary spherocytosis is caused by the mutation that occurs in more than five genes in the body. The genes which happen to deliver instruction to produce the proteins located in the red blood cells. The typical protein happens to transport the molecules in or out of the dell and attach to the other cell as they maintain what is known as cell structure. The protein also permits the flexibility of the cell. Red blood cell must be flexible to transport or travel in the arteries to other vessels that might be smaller. Proteins also permit the cell top to alter or change its shape without being damaged as it passes through the small or narrow capillaries. Christensen, Yaish and Gallagher (2015) states “Mutations in red blood cell membrane proteins result in an overly rigid, misshapen cell. Instead of a flattened disc shape, these cells are spherical. Dysfunctional membrane proteins interfere with the cell’s ability to change shape when travelling through the blood vessels. The misshapen red blood cells, called spherocytosis, are removed from circulation and taken to the spleen for destruction” (p. 1107-1114). Inside the spleen, red blood cell undergoes the process known as hemolysis. Limitation of the red blood cell during the process of circulation and the excessiveness of the spleen are the root cause of the hereditary spherocytosis. Besides, the mutation that occurs in the AK1 gene is accountable for half of all the reasons for hereditary spherocytosis. Other genes are responsible for the smaller part of transmitting or development of spherocytosis.
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