Sickle Cell Anemia ( Sca )

Sickle cell anemia (SCA) is one of the most common inherited genetic diseases. It is frequently found in tropical regions of the world. It primary affects people from African descend, followed by people of Arab, Indian and Hispanic descent. SCA changes the conformation of hemoglobin, the globular protein inside red blood cells that helps transport oxygen throughout the body. The articles titled “Pathophysiological insights in sickle cell disease,” “Sickle Cell Anemia: Progress in Pathogenesis and Treatment,” and “A Review on Sickle Cell Anemia” all agree that SCA occurs when a person inherits two copies of the 11th chromosome from each parent containing the receive trait. If an individual inherits only one copy of the chromosome with the mutation, he will only develop the sickle cell trait because only one copy of DNA with the sickle cell trait is not enough to cause the disease, but the homozygotic disease can still be passed on to his children with a 50% chance. SCA originates from an abnormality in the Beta amino acid chain of hemoglobin. The normal hemoglobin is made up of two beta-globin protein chains and two alpha-globin chains. The structure of the B-amino acid chain of hemoglobin at position six, in Beta chain 2, is expressed as GAG, that codes for glutamic acid, but on SCA patients the Beta amino acid chain structure replaces the adenine for a thymine nucleotide, the GTG changes a hydrophilic glutamic acid (GAG) for a hydrophobic valine (GTG) still at position 6, a position that is at the surface of the amino acid chain and it is usually exposed to water. The hydrophobicity of valine reduces the solubility of the molecule. This small, simple change of one letter on the Beta amino acid chain of hemoglobin generates the sy...

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...ic causes. I believe that researches are on the right track on finding a cure that can be available to more patients other then just 1%, which is the percentage of people that undergo a bone marrow transplant. Researchers have done a wonderful job finding out the origin of the disease, which is a big step compared to other diseases that scientist are still trying to figure out the cause. Two of the questions that I would like for further research will be if after getting a bone marrow transplant all the damage already done to other organs of the body can still be reversible, and that if the inhibition of P-selectin could actually cause a decrease on its affinity to sickle cells. I hope that future scientist can come across a cure for this mutation, so that all the people who suffer from it can have a chance to lives their lives normally without any painful crisis.