Sickle-Cell Research Papers

Sickle-cell disease, also known as sickle-cell anaemia, is a hereditary blood disorder, caused by an abnormality in the oxygen-carrying protein hemoglobin found in red blood cells. This leads to a propensity for the cells to assume an abnormal, rigid, sickle-like shape under certain circumstances. Sickle-cell disease is associated with a number of acute and chronic health problems, such as severe infections, attacks of severe pain, stroke, and an increased risk of death. Sickle-cell disease occurs when a person inherits two abnormal copies of the hemoglobin gene, one from each parent. Several subtypes exist, depending on the exact mutation in each hemoglobin gene. A person with a single abnormal copy does not experience symptoms and is said
In people homozygous for hemoglobin S, the presence of long-chain polymers of hemoglobin S distort the shape of the red blood cell from a smooth doughnut-like shape to ragged and full of spikes, making it fragile and susceptible to breaking within capillaries. Carriers have symptoms only if they are deprived of oxygen or while severely dehydrated. The sickle-cell disease occurs when the sixth amino acid, glutamic acid, is replaced by valine to change its structure and function; causing the hemoglobin to collapse on itself occasionally. When enough hemoglobin collapses on itself the red blood cells become
Blood transfusions are often used in the management of sickle-cell disease in acute cases and to prevent complications by decreasing the number of red blood cells that can sickle by adding normal red blood cells. In children prophylactic chronic red blood cell transfusion therapy has been shown to be efficacious to a certain extent in reducing the risk of first stroke or silent stroke when transcranial Doppler ultrasonography shows abnormal increased cerebral blood flow velocities. In those who have sustained a prior stroke event it also reduces the risk of recurrent stroke and additional silent strokes.Bone marrow transplants have proven effective in children and are the only known cure for SCD. However, bone marrow transplants are difficult to obtain because of the specific HLA typing necessary. Ideally, a twin family member or close relative could possibly be a donor of the bone marrow necessary for