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Sickle Cell Disease

            Sickle Cell disease is a disorder passed down through families, where it causes red blood cells to become abnormally shaped. Red blood cells are the cells that transports or carries oxygen throughout the human body. Sickle Cell disease affects over 400,000 children and adults per year. This genetic disorder is a very deadly one and causes symptoms that eventually lead to a very serious injury or even death. The disease gets its name from the abnormal shape of the affected red blood cells. The only way you can get sickle cell disorder is if both your parents pass down one defective copy of the disease. The parents can be carriers of the defective sickle cell gene and not have the disease, nor have any symptoms. The only way they would know they were carriers is if they had taken a sickle cell trait blood test. Sickle cell disease is inherited in an autosomal recessive pattern which means two copies of the abnormal gene must be present in order to develop the disorder. People with sickle cell disease have a gene abnormality or a mutation of the hemoglobin gene in chromosome 11. Hemoglobin is a molecule in the red blood cell that delivers and carriers oxygen to cells throughout the human body. In the hemoglobin there are four protein subunits: 2 subunits of alpha globin and 2 subunits of beta globin. The mutations in the hemoglobin occur in the HBB gene. This gene provides instructions for making beta globin. In sickle disease at least one of the beta globin subunits is replaced with hemoglobin S. Abnormal versions of beta globin can distort red blood cells into a sickle shape. The sickled blood cells can lead to anemia.
             Sickle cell disease or disorder cause a number of symptoms. These symptoms often lead to a serious injury or death in a patient. The most common effect is the sickling of blood cells, this means that the red blood cells are oddly shaped. This symptom is the root cause for all the other symptoms.

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