NR 507 Week 3: Discussion Part One

What is the etiology of sickle cell anemia?

Sickle cell disease is “a group of disorders characterized by the presence of an abnormal form of hemoglobin—hemoglobin S (HbS)—within the erythrocytes” (McCance, Huether, Brashers, & Rote, 2013, p. 1063). It is an inherited disease from at least one of the parents. Sickle cell disease is a lifelong illness, but it can be managed. There are different types of sickle cell disease including sickle cell anemia, sickle cell-thalassemia disease, and sick cell-HbC disease. There is even the sickle cell trait where a person can be a carrier, having inherited the HB S from one parent. However, there are rarely clinical issue with those who are just carriers. Sickle cell anemia is a normocytic-normochormic anemia, or NNA, meaning that it is “characterized by erythrocytes that are relatively normal in size and hemoglobin content but insuffcient in number” (McCance, Huether, Brashers, & Rote, 2013, p. 993). There are five groups of NNAs including the hereditary hemolytic type that sickle cell anemia is because of the destruction by eryptosis, or the destruction erythrocytes through cell shrinkage, membrane blebbing, or activation of proteas (McCance, Huether, Brashers, & Rote, 2013, p. 993). Sickle cell anemia is the most common sickle cell disease and the most severe (NHBLI, 2014). It is estimated that there are between 70,000 and 100,000 Americans who suffer from sickle cell anemia with those affected most being of African ancestry. While sickle cell has a high rate of morbidity, more than 90% of diagnosed children do survive into adulthood, however, their lifespan is diminished (NHBLI, 2014). Sickle cell disease is screened in every newborn born in a hospital in the United States. This is done through a simple blood test that checks the hemoglobin in the body.

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1.What is the etiology of sickle cell anemia?

Sickle cell anemia (SCA), the most prevailing and serious variant of sickle cell as a consequence of a genetic transmutation in the beta chain of hemoglobin, which can cause the generation of sickle cell hemoglobin S (HbS) (Kato, Steinberg & Gladwin, 2017).  SCA is inherited in an autosomal recessive method, meaning that affected persons acquire the hemoglobin S DNA segment from both parents (Kato, Steinberg & Gladwin, 2017). Persons who acquire the hemoglobin genetic factor from one parent and a normal hemoglobin DNA segment from the other parent will have SCA trait; persons with SCA trait are usually asymptomatic but may transfer the mutation to their children (Kato, Steinberg & Gladwin, 2017).  Even though SCA and SCA trait occurs mainly in individuals who are of African descent, individuals with Mediterranean, Middle Eastern, Caribbean and Australian Indian ancestry may have SCA and sickle cell trait (Kato, Steinberg & Gladwin, 2017). Sickle cell trait develops in three hundred million people globally, in 30-40 percent of individuals in sub-Sahara Africa, and 8 percent of Black Americans. More than seventy thousand individuals in the United States have SCA and an approximately, two thousand infants are born with SCA yearly (Kato, Steinberg & Gladwin, 2017).  The incidence of SCA is 1 in 500 Black Americans at birth (McCance, Huether, Brashers, & Rote, 2013). Life span is 42 years for men and 48 years for women; frequent causes of death include infection, thrombosis, pulmonary embolism, pulmonary hypertension, and kidney failure. Pain is the major cause of hospital admissions among adults with SCA (Kato, Steinberg & Gladwin, 2017). Every year in the United States, has an estimated 75,000 hospitalizations due to SCA-related complications and expenditures are approximately $500 million (Kato, Steinberg & Gladwin, 2017).

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