THE ROLE OF GENETICS AND MEDICINE IN SICKLE CELL ANEMIA

The Role of Genetics and Medicine in Sickle Cell Anemia Kennedy Radix Bayside High School

THE ROLE OF GENETICS AND MEDICINE IN SICKLE CELL ANEMIA Abstract This paper explores the ties that are connected between genetics, medicine, and sickle cell anemia (also known as Sickle Cell Disease). Sickle Cell Anemia (SCD) is a genetic blood

disorder in which a single amino acid substitutes one of the component proteins of hemoglobin (Sickle Cell Anemia 2008). Sickle Cell can affect ones daily life, from having to take pills every day to the excruciating pain crises. For those who have the Sickle Cell trait (also known as a carrier), family planning is vital before making a decision on whether to have children or not. Sickle Cell Anemia is known to affect many people, especially those of African-American descent, in areas such as the Mediterranean and Africa (Sickle Cell Disease 2012). Keywords: Sickle Cell Disease

THE ROLE OF GENETICS AND MEDICINE IN SICKLE CELL ANEMIA The Role of Genetics and Medicine in Sickle Cell Anemia In the United States, about 1 in every 500 African-Americans is born with Sickle Cell

Disease. Another 2.5 million are carriers of the gene. The purpose of this paper is to explain how genetics and medicine has ties with this particular disorder. In this paper, I will discuss what SCD is, as well as where the disorder originated. Also, symptoms, treatment, how SCD affects ones life, and different types of genetic testing for the trait will be described. Because many people are bearers of the SCD trait, genetic testing should be essential, since some people do not know of their inheritance, therefore family planning is necessary.

What is Sickle Cell Anemia? Sickle Cell Anemia is a genetic blood disorder. According toSickle Cell Disease (2012) observes that there are 3 common types of Sickle Cell: Hemoglobin SS or sickle cell anemia, Hemoglobin SC disease, Hemoglobin sickle beta-thalassemia. In an affected persons DNA, (Sickle Cell Anemia 2006) a single incorrect amino acid is substituted at one point with the structure of a hemoglobin molecule,(TeensHealth 2012) which is a protein in blood cells that helps carry oxygen around the body. A normal hemoglobin molecule is recognized as HbA, whereas abnormal hemoglobin is HbS (TeensHealth 2012). According to Chernoff (2012), the genes controlling hemoglobin formation is inherited from both parents. Individuals with one faulty gene are considered to be carriers of trait (Sickle Cell Anemia 2006). These people have one normal hemoglobin gene and one sickle cell hemoglobin gene. Carriers are not affected by the symptoms of the disease, but their blood does contains some Hemoglobin S (Sickle Cell Anemia 2008), meaning they have a co-dominance of regular red blood cells and sickled blood cells. They produce enough normal hemoglobin to make red blood cells flexible and round

THE ROLE OF GENETICS AND MEDICINE IN SICKLE CELL ANEMIA

(Cancer and Blood Diseases 2006). Also, certain situations that have inadequate oxygen levels may cause abdominal pain and bleeding. Individuals who inherit 2 abnormal hemoglobin genes actually have Sickle Cell Anemia. Since there is the substitution in the component proteins of hemoglobin in the formation of erythrocytes (or red blood cells), (Sickle Cell Anemia 2008) the blood cells tend to take on a stiff, elongated shape. Sickle Cell Anemia (2008) says that hemoglobin molecules constructed with the defective proteins have a tendency to stick to one another. These form strands of hemoglobin in red blood cells (Sickle Cell Anemia 2008). According to Sickle Cell Anemia (2006), the characteristic shape of a sickle cell is a half-moon. Because of this shape, (Sickle Cell Anemia 2006) the sickled cells move very slowly and sluggishly through blood vessels in the body, sometimes blocking these vessels for a period of time. When the vessels become blocked, the blockage can cause painful episodes known as pain-crises. Sickle Cell Anemia 2008 acknowledges that the crises, also known as vaso-occlusive crises, are often the result of oxygen from reaching tissues. This pain can last from several moments to several days (Cancer and Blood Diseases 2006).

Origin of the Disease Sickle Cell Anemia (2006) suggests that the Sickle Cell gene must have originated in Africa thousands of years ago. It is said that the trait must have evolved as a protective measure (Sickle Cell Anemia 2006). The trait provides protection against diseases like malaria, where coincidentally it is a problem in Africa (Sickle Cell Anemia 2006). Sickle Cell Anemia (2006) also states that SCD primarily affects African-American, although it can occur in many

THE ROLE OF GENETICS AND MEDICINE IN SICKLE CELL ANEMIA people such as those in the following areas: (Sickle Cell Disease 2012) the Caribbean, Mediterranean, India, and the Middle East.

Symptoms and Treatment Symptoms of this disease are, of course, pain crises, delayed growth, strokes, jaundice (yellowish hue to the skin and eyes due to liver damage), and anemia (Genetic Science Learning Center 2012). Sickled blood cells also dont last as long as normal blood cells. Whereas normal blood cells last 120 days, the affected blood cells on last from 10-20 days (Sickle Cell Tests 2009). This shortage of blood cells can possibly cause anemia in the patient. Other common symptoms of include fatigue, shortness of breath, dizziness, headaches, pale skin, chest pain, and coldness in hands and feet. Complications that can arise from having this disorder are Stroke, gallbladder stones, damage to the retina (in the eye), and high blood pressure in the lungs (Cancer and Blood Diseases 2006). Another difficulty that children with SCD can develop is acute chest syndrome (Cancer and Blood Diseases 2006). Treatment for these can range from antibiotics, pain management, or intravenous fluids. The treatment for this genetic disorder is very complex. As stated in Sickle Cell Disease (2012), because the disease causes your immune system to become weak, patients of SCD have to take a dose of penicillin for protection against deadly infections. Also, to provide the patients with healthy blood cells in an episode of anemia, blood transfusions are common (Sickle Cell Disease 2012). To treat pain crises, Hydroxyurea can be used (Cancer and Blood Diseases 2006). Hydroxyurea is a drug that helps reduce the number and intensity of painful episodes and complications in patients with sickle cell disease (Cancer and Blood Diseases 2006). Another form of treatment is bone marrow transplants. These are more likely to be used

THE ROLE OF GENETICS AND MEDICINE IN SICKLE CELL ANEMIA

for patients with more severe cases. Like a blood transfusion, this form of treatment provides the patient with healthy blood cells. The donor would most likely be a sibling (Sickle Cell Anemia 2012).

How Does Sickle Cell Affect Daily Life? Sickle Cell has many effects on daily life, not just for the individual, but for their family as well. Some guidelines a Sickle Cell patient has to follow include (Sickle Cell Disease 2012) taking Folic acid to create new red blood cells, drink plenty of water, avoid too high or too low temperatures, get plenty of rest, have regular checkups, and try to avoid overexertion. As stated before, patients with Sickle Cell tend to feel pain in their joints, due to the slow movement of sickled blood cells through small blood vessels (Sickle Cell Anemia 2008) , sometimes turning into crises. For some, these crises may require hospital visits.

Genetic Testing and Family Planning For carriers, planning is necessary in preventing this hereditary disease. Currently, most states require newborns to be tested for SCD when they are born (Sickle Cell Disease 2012). It is a simple blood test known as Hemoglobin Electrophoresis. For a baby, a blood sample is taken from the heel or finger and the presence of Hemoglobin S is measured, this testing is a part of newborn screening (Sickle Cell Tests 2009). . Basic screening tests such as the Hemoglobin Solubility test will identify people at risk for sickle cell. It is also done for people thought to be at risk for sickle cell because of a family history as well as for NCAA athletes as part of their protocols. When tested, there are different traits that can be detected (Sickle Cell

THE ROLE OF GENETICS AND MEDICINE IN SICKLE CELL ANEMIA Disease2012). They are Hemoglobin C, Hemoglobin E, Alpha-thalassemia (or Hemoglobin Barts), and Beta-thalassemia.

Parents who are carriers have to be careful when planning to have children. As stated in Cancer and Blood Diseases (2006), If one parent has sickle cell disease and the other is normal, all of the children will have sickle cell trait. If one parent has sickle cell disease and one has sickle cell trait, there is a 1 out of 2 chance of having a baby with either sickle cell disease or sickle cell trait with each pregnancy. In the chance that both parents have the trait, they have a 1 out of 4 chance of having a baby with sickle cell disease with each pregnancy. Many people do not know they are carriers of the Sickle Cell trait. Because of this, family planning and genetic testing are key tools in preventing Sickle Cell Anemia from happening to a family member in the future.

THE ROLE OF GENETICS AND MEDICINE IN SICKLE CELL ANEMIA

References

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THE ROLE OF GENETICS AND MEDICINE IN SICKLE CELL ANEMIA Sickle Cell Test | Sickle Cell Blood Test. (n.d.). Sickle Cell Test. Retrieved January 3, 2013, from http://www.sicklecelltest.com/

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Sickle Cell Tests: At a Glance. (2009, November 29). Lab Tests Online: Welcome!. Retrieved December 19, 2012, from http://labtestsonline.org/understanding/analytes/sickle/tab/glance Sickle-Cell Disease. (2013). Grolier Online. Retrieved December 12, 2012, from http://go.grolier.com/