Sickle Cell Case Study

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Blood disorders can affect one of the four components of blood: erythrocytes (red blood cells), leukocytes (white blood cells), platelets, or plasma. The blood is affected by sickle cell diseases causing an abnormality or mutation in the hemoglobin of red blood cells. The most common type of genetic blood disorders is sickle cell diseases with sickle cell anemia being the most dangerous (Addis, 2010). Sickle cell anemia is characterized into the group of sickle cell diseases. The phenotype number for sickle cell anemia is #603903 on the HBB gene/ locus (OMIM, 2014). Sickle cell anemia can also be known as HbS disease, hemoglobin S disease, and hemoglobin SS disease (NHLBI, 2012). Sickle cell anemia is identified by both its description and …show more content…
The change in shape causes the red blood cells to be destroyed when they clump together. This gives the blood cells a shorter life span of less than twenty days. The normal red blood cell has a life span of about one hundred and twenty days. When the oxygen levels are lowered, the cells go into sickle cell crisis and the end result could lead to fatality. The pain associated with the symptoms of sickle cell anemia is called sickle cell crisis (Tchuenche, 2005). Sickle cell crisis can also be called vaso-occlusion. Vaso-occlusion occurs when an individual is exposed to physical stress, infection, high fevers, and emotional stress. Other causes can be acidosis (excessive amount of acid in tissues), dehydration, and hypoxia (lack of oxygen in tissues) (Angerio & Lee, 2003). Symptoms of sickle cell anemia include chronic hemolytic anemia (red blood cells are destroyed), heart failure, the possibility of damaging organs, and a stroke. The red blood cells can become clotted causing acute pain. The acute pain in the chest that is correlated with the disease is called acute chest syndrome (JAAPA, 2012). The chest pain comes along side the other symptoms of a fever, cough, and shortness of breath. Acute chest syndrome can also lead to the hospitalization of the patients and in severe cases death. Sickle cell anemia is a pleiotropic disorder …show more content…
When the third case was reported in 1917, researches began studying whether the disease was inherited from the parents. The sickle-shaped red blood cells were found both in the parents and carrier (Tchuenche, 2005). Sickle cell anemia has been predominantly found in African Americans and secondly in Hispanic Americans. Out of 500 African American 1 person will inherit sickle cell anemia. Similarly, every 1 person out of 36, 000 Hispanic Americans also inherit sickle cell anemia. (JAAPA, 2012). Most of the African Americans carrying this trait are heterozygous for the trait and have a 0.7% chance of having a child with sickle cell disease when two African Americans mate (American Academy of Nurse Practitioners, 2010). The hereditary cause of sickle cell anemia comes from an abnormal HbSS gene (Tchuenche, 2005). Different studies have shown that the sickle cell trait has a resistance against falciparum malaria. However, the individuals who are homozygous recessive for sickle cell anemia have higher chances of contracting the lethal malaria. Since, the heterozygote carrier has a lower probability of contracting malaria and the homozygotic individual with the disease has a higher chance of contracting this lethal form of malaria, this genetic expression has been termed a balanced type of polymorphism. A balanced polymorphism when trait that is inherited homozygous recessive is at a disadvantage because there are other

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