Sickle cell anemia is an inherited disease. It must be passed to a child from both the father and the mother in order for that child to experience symptoms of sickle cell anemia. A carrier of the sickle cell anemia trait may have some sickle cells in their blood. However, symptoms are not usually present in that case. This genetic disorder disrupts the body's production of the protein hemoglobin, which deforms red blood cells and reduces their efficiency.
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Honor Society of Nursing (STTI) answered
Sickle cell disease is an inherited blood disorder, passed from parent to child. Children with sickle cell disease have two defective hemoglobin S genes, one from each parent. Various forms of sickle cell disorder occur when a person inherits one hemoglobin S gene (sickle cell gene) from one parent and one other type of defective hemoglobin gene from the other parent.
Normally, a person inherits two genes that tell the body to produce normal hemoglobin A. One gene comes from each parent. People who inherit one defective hemoglobin S gene and one normal hemoglobin A gene have sickle cell trait. These people don't have symptoms of sickle cell disease, and their bodies don't make sickled blood cells. But they can pass the defective hemoglobin S gene to their children.
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The disorders collectively referred to as sickle cell disease (SCD) are caused by mutations, or genetic errors, which affect the structure of hemoglobin.
Hemoglobin is a protein in red blood cells that carries oxygen. It is made of four components: two alpha-globin subunits and two beta-globin subunits. The mutations that cause the most common form of SCD, sickle cell anemia (SCA), occur in the HBB gene. This gene contains the genetic instructions for making the beta-globin subunit of hemoglobin.
Normal red blood cells are round, flexible, and able to travel easily though blood vessels. In SCD, two normal alpha-globin subunits associate with two mutated beta-globin subunits and the resulting hemoglobin is defective.
Defects in hemoglobin may cause red blood cells to become stiff and sickle-shaped. These irregularly shaped blood cells do not flow as easily as normal red blood cells and often block blood flow and form blood clots.
In SCA, the HBB mutations produce a defective form of hemoglobin called hemoglobin S (HbS).
Other mutations in the HBB gene can produce different defective forms of hemoglobin, including hemoglobin C (HbC) and hemoglobin E (HbE). Different variations of SCD can result from combinations of mutations that affect hemoglobin.
Other defects in the HBB gene can result in abnormal levels of beta-globin. A type of SCD called beta-thalassemia results from abnormally low levels of beta-globin.
SCD is a recessive genetic condition, meaning that the mutations must be inherited from both parents for the disease to manifest. People who have inherited the mutation from only one parent may not have noticeable symptoms of the disease because only some of their red blood cells are defective. However, these people are called "carriers" of the SCD trait because they may pass the mutation to their children.
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