When I think about Sickle Cell Anemia, the first thing that comes to my mind is blood. When you get cut and a darkish red liquid comes out, that is called blood. Blood is a red liquid that carries nutrients, gases like oxygen and carbon dioxide, and iron throughout our body. (1) Blood connects to Sickle Cell Anemia because Sickle Cell Anemia is a disease that changes the shape of our blood cells. Instead of being circle, it becomes a sickle shape. This shape can have a negative effect, but it can also have a positive effect. Some negative effect might be pain, fatigue and death at young age. A positive effect is that sickle cell alleles are resistant to malaria. In this paper I will focus on the history, etiology, genetics, symptoms, diagnosis
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It is also a type of anemia. Anemia is a deficiency in which the red blood cells count is lower than the normal red blood cells in the body. (1, 19) This can cause shortness of breath, headache, fatigue and loss of energy. (1, 19) Sickle Cell Anemia is a disease in which the normal blood cells changes shape under certain conditions and becomes abnormal. It forms a sickle looking shape red blood cells. The main cause of Sickle Cell Anemia is from the mutation of a protein called Hemoglobin. (1, 7) Hemoglobin is responsible for transporting oxygen from the lungs to the various parts of the body like liver, muscle etc. There are four protein subunits or parts which are two subunits of alpha globin and two subunits of beta globin. (10) The mutation happens in the beta globin called Hemoglobin beta globin or HBB gene. (3) When this occur it produces a hemoglobin variant called Hemoglobin S. (3) Hemoglobin A accounts for 95 - 98 % Hemoglobin and it is the most abundant Hemoglobin in our body. (3) The presence of Hemoglobin S makes the red blood cells develop the sickled shape, causing the flow of the blood vessels to cluster together. This can lead to blockage resulting pain, infections and organ damage in the body. (15) Hemoglobin S is a great example of single base mutation called missense mutation. Missense mutation is genetic change in which an amino acid (makes up protein) is substitute for a …show more content…
Individuals do not have to express all of these symptoms. The symptoms may include pain in the chest and hands and feet, fever, fatigue, elevated heart rate, headaches, dizziness, hand-foot syndrome, yellow discoloration of the skin, and delayed growth or puberty. (5) The most common symptoms with the sickle cell anemia is pain in the body. Affected individuals can feel pain in their head, abdomen, hands, feet and other parts of their body. There are two types of pain acute pain and chronic pain. (17) Acute pain is the most common pain. (17) Acute pain is more severe and painful than chronic pain. (17) This can occur in the stomach, thorax, back and the pain can last from a minimum 15 minutes to hours or weeks. (17) The most intense form of acute pain would probably be the Vaso-occlusion. This occurs in episodes or patterns and some individuals might only have some of it, others have it so great that they spend most of their time in the hospital. (8) This is the common reason why patients visit emergency department often. (8) Vaso-occlusion vary in severity and frequency because the pain patterns changes as the individual grows from a child to an adult. (8) This can create complications including stroke, pain syndromes and leg ulcers.
It is also a type of anemia. Anemia is a deficiency in which the red blood cells count is lower than the normal red blood cells in the body. (1, 19) This can cause shortness of breath, headache, fatigue and loss of energy. (1, 19) Sickle Cell Anemia is a disease in which the normal blood cells changes shape under certain conditions and becomes abnormal. It forms a sickle looking shape red blood cells. The main cause of Sickle Cell Anemia is from the mutation of a protein called Hemoglobin. (1, 7) Hemoglobin is responsible for transporting oxygen from the lungs to the various parts of the body like liver, muscle etc. There are four protein subunits or parts which are two subunits of alpha globin and two subunits of beta globin. (10) The mutation happens in the beta globin called Hemoglobin beta globin or HBB gene. (3) When this occur it produces a hemoglobin variant called Hemoglobin S. (3) Hemoglobin A accounts for 95 - 98 % Hemoglobin and it is the most abundant Hemoglobin in our body. (3) The presence of Hemoglobin S makes the red blood cells develop the sickled shape, causing the flow of the blood vessels to cluster together. This can lead to blockage resulting pain, infections and organ damage in the body. (15) Hemoglobin S is a great example of single base mutation called missense mutation. Missense mutation is genetic change in which an amino acid (makes up protein) is substitute for a …show more content…
Individuals do not have to express all of these symptoms. The symptoms may include pain in the chest and hands and feet, fever, fatigue, elevated heart rate, headaches, dizziness, hand-foot syndrome, yellow discoloration of the skin, and delayed growth or puberty. (5) The most common symptoms with the sickle cell anemia is pain in the body. Affected individuals can feel pain in their head, abdomen, hands, feet and other parts of their body. There are two types of pain acute pain and chronic pain. (17) Acute pain is the most common pain. (17) Acute pain is more severe and painful than chronic pain. (17) This can occur in the stomach, thorax, back and the pain can last from a minimum 15 minutes to hours or weeks. (17) The most intense form of acute pain would probably be the Vaso-occlusion. This occurs in episodes or patterns and some individuals might only have some of it, others have it so great that they spend most of their time in the hospital. (8) This is the common reason why patients visit emergency department often. (8) Vaso-occlusion vary in severity and frequency because the pain patterns changes as the individual grows from a child to an adult. (8) This can create complications including stroke, pain syndromes and leg ulcers.