Understanding Sickle Cell Disease

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Sickle cell disease refers to a group of inherited disorders that affect the red blood cells. The individuals who have sickle cell disease have abnormal hemoglobin, called hemoglobin S, or sickle hemoglobin, in their red blood cells. An “inherited” condition, an individual must receive the gene from both parents to have sickle cell disease. When a person receives a gene for sickle cell disease from one parent and a normal gene from the other, that person is said to have "sickle cell trait." Sickle cell trait produces no symptoms or problems for most people. For those who receive both genes and have the actual disease, the severity varies from person to person; with some individuals leading normal lives, while many others have an extensive …show more content…
Understanding sickle cell disease is important for nurses and affected populations alike. In a The New England Journal of Medicine in an article entitled “Sickle Cell Disease” the authors state that “Sickle cell disease is a multisystem disorder that is caused by a single gene mutation… Characterized by the presence of abnormal erythrocytes damaged by HbS, this variant of normal adult hemoglobin (HbA) is inherited either from both parents (homozygosity for the HbS gene) or from one parent, along with another hemoglobin variant, such as hemoglobin C (HbC), or with β-thalassemia (compound heterozygosity).” In sickle cell disease, two copies of the abnormal gene must be present for the disease or trait to develop making it a autosomal recessive disease. For each child a couple has, there is a one in four chance of that child developing sickle cell disease. It is imperative for couples who may have a family history of the trait or actual disease to have blood work done when starting to talk about having children of their …show more content…
In the article Sickle Cell Disease by Ware, de Montalembert, Tshilolo, and Abboud it is explained that in sickle cell disease “...erythrocytes undergo rapid but reversible shape change on deoxygenation, and intracellular polymerisation of the abnormal HbS molecule stretches the normal flexible biconcave shape into an elongated rigid form… This process of sickling and unsickling continues until the erythrocyte membrane is no longer flexible, and irreversibly sickled cells with dense intracellular polymers undergo intravascular haemolysis or extravascular removal by the reticuloendothelial system”. In other terms, reoxygenation of the sickle shaped cell allows it to go back to it’s disc shape, but the constant deoxygenation/sickling and reoxygenation makes the membrane unstable, eventually causing it to break down. This constant hemolysis is the underlying cause for the anemia associated with sickle cell
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