what is sickle cell anemia pubmed?
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Abstract. Sickle cell anemia (SCA) is a disease caused by production of abnormal hemoglobin, which binds with other abnormal hemoglobin molecules within the red blood cell to cause rigid deformation of the cell.
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People with sickle cell disease have red blood cells that contain mostly hemoglobin S, an abnormal hemoglobin type. These red blood cells are stiff, distorted in shape (like a sickle) and sometimes block small blood vessels.
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Sickle cell anemia is a common and disabling disorder profoundly affecting mortality as well as quality of life. Up to 35% of men with sickle cell disease are affected by painful, prolonged erections termed ischemic priapism. A priapic episode may result in fibrosis and permanent erectile dysfunction.
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Sickle cell disease is the name for a group of inherited health conditions that affect the red blood cells. The most serious type is called sickle cell anaemia. Sickle cell disease is particularly common in people with an African or Caribbean family background.
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Sickle cell anemia is the result of a point mutation, a change in just one nucleotide in the gene for hemoglobin. This mutation causes the hemoglobin in red blood cells to distort to a sickle shape when deoxygenated. The sickle-shaped blood cells clog in the capillaries, cutting off circulation.
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Sickle cell anemia is inherited in an autosomal recessive pattern, which means that both copies of the gene in each cell have mutations . The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
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A genetic disease Sickle cell anemia results from a mutation in a gene called HBB, which contains the blueprint for cells to make part of a protein called hemoglobin. The hemoglobin protein is made up of two alpha chains and two beta chains. Each chain includes an iron-containing “heme” portion.
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Key points. Sickle cell disease is an inherited blood disorder marked by defective hemoglobin. It inhibits the ability of hemoglobin in red blood cells to carry oxygen. Sickle cells tend to stick together, blocking small blood vessels causing painful and damaging complications.
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When a person has two hemoglobin S genes (hemoglobin SS), the disease is called sickle cell anemia. This is the most common and often most severe type of sickle cell disease. Hemoglobin SC disease and hemoglobin Sβ thalassemia are two other common types of sickle cell disease.
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Sickle cell anemia is caused by a mutation in the gene that tells your body to make the iron-rich compound that makes blood red and enables red blood cells to carry oxygen from your lungs throughout your body (hemoglobin).
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Sickle cell anemia is a disease where red blood cells become thin and elongated. If a person has one copy of the sickle cell allele, half of their red blood cells will be misshapen. In this way, the allele is codominant, since both normal and sickled shapes are seen in the blood.
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Sickle cell anaemia is an inherited autosomal recessive disorder. The leading causes of death in sickle cell diseases (SCD) are infection, pain episodes, acute chest syndrome and stroke [1, 2].
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A sickle cell test is a blood test done to check for sickle cell trait or sickle cell disease. Sickle cell disease is an inherited blood disease that causes red blood cells to be deformed (sickle-shaped).
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Hemoglobin SC disease is a type of sickle cell disease. People who have Hemoglobin SC disease (also called sickle-hemoglobin C disease) have red blood cells that contain both hemoglobin S and hemoglobin C. Under certain conditions, these red blood cells harden and take on a sickle (or banana) shape.
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Sickle Cell The sickle-shaped blood cells clog in the capillaries, cutting off circulation. Having two copies of the mutated genes cause sickle cell anemia, but having just one copy does not, and can actually protect against malaria - an example of how mutations are sometimes beneficial.
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In sickle cell anemia, blood is also chronically low in oxygen. This lack of oxygen-rich blood can damage nerves and organs, including your kidneys, liver and spleen, and can be fatal. Blindness. Sickle cells can block tiny blood vessels that supply your eyes.
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Sickle cell anemia is a pleiotropic disease because the expression of a single mutated HBB gene produces numerous consequences throughout the body. The mutated hemoglobin forms polymers and clumps together causing the deoxygenated sickle red blood cells to assume the disfigured sickle shape.