Genetics of Sickle Cell Disease and the Newest Treatment (Essay Sample)

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Abstract
Sickle cell disease is a lifelong disease and its severity varies widely from one individual to another. In countries like the United States of America that are of high-income the life expectancy of a person with sickle cell disease ranges from 40-60 years. In the past years in average, the life expectancy of a person with SCD was 14 years. Advanced treatments in this field have made the increase in life expectancy possible. New advanced treatments that will replace the current hematopoietic stem cell transplantation will be discussed in the paper in the efforts of increasing life expectancy and reducing SCD symptoms. To understand Sickle Cell disease genetics of the disease will be discussed in depth including sickle cell inheritance.
Genetics of Sickle Cell Disease and the Newest Treatment
Introduction
Sickle cell disease is a term that embraces various groups of genetic conditions whereby pathology is caused by the inheritance of the genes of sickle cells with another interrelating gene. In terms of gene mutation, sickle cell disease was the first to be classified in this category. The most common type of sickle cell disease is the sickle cell anemia. According to the article "Strokes with Transfusion Changing to Hydroxyurea" out of the children with sickle cell anemia 10% show recurrence of stroke (Ware 3925). The genetic mutation changes the hemoglobin molecule resulting in the hardening of the red blood cells and forming sickle-shaped red blood cells. In the blood vessels, the sickle-shaped red blood cells are stuck inside the narrow blood vessels thus making it difficult for blood to flow freely. The limitation of free blood flow results in most people with the sickle cell disease to suffer from joint and bone pains. Blindness, strokes, damage to the kidney, livers, and the hearts are also some dangers that sickle cell disease individuals may face (Aygun et al 262).
According to recent research, sickle cell trait occurrence is based on the natural mutation of the gene, hemoglobin. Individuals with this trait are thus protected from being diagnosed with malaria. Malaria is common to countries that are found at the equator due to their hot and wet climate that is best for the breeding of mosquitoes (Hsieh 231). It is true to conclude that people with this trait are free from malaria due to lower parasite counts hence lower chances of them dying from malaria. On the other hand, those with normal hemoglobin and sickle cell anemia are susceptible to malaria. Sickle cell disease is dominant in the African American in the USA as compared to other groups. It is also common to the individuals from Central India, Middle East and other countries that border the Mediterranean Sea.
In the United States of America, this trait has been a challenge and life threatening. Every year in America one in every 400 infants of African-American origin are born with the trait. In a recent study in America, more than 80,000 people were proven to have the sickle cell trait most of whom have their origin in Africa. One in every 12 Africa Americans has the sickle cell trait. The most common of the trait is anemia (SS) followed by hemoglobin SC that is mild than anemia and sickle beta thalassemia that can be mild or severe. During screening and one is found to have this trait treatment is necessary to eradicate the symptoms associated with the trait. The symptoms include paleness, fatigue, shortness of breath, jaundice, and rapid heart rate. Blocking of the red blood vessels could also cause symptoms such as poor eyesight and blindness, priapism, ulcers on the lower sides of the leg and ultimately may cause infection of different organs in the body such as the urinary tract, the lung, and the gall bladder. Individual with the sickle cell trait must thus be hospitalized and for blood transfusion to prevent death before the age of 20 years (Sabarenseet al 32). New methods have been used in the treating sickle cell disease and have proven to prolong SCD individual’s life to over 40 years. This research paper will determine whether life expectancy is increased by the modern treatment of sickle cell disease and determine the genetic of sickle cell disease and how it is affected by demographics such as the geography of an individual.
Genetics of Sickle Cell Disease
Sickle Cell Inheritance
Two versions of alleles of the hemoglobin gene are crucial for the inheritance of the disease, and they are A and S. If an individual has two A alleles, that is AA their hemoglobin and so are their red blood cells. If an individual has two SS those two S alleles, then they develop sickle cell anemia. For those with one A allele and one S allele in most cases are usually healthy and free from sickle cell anemia but under certain conditions such as high altitude or during vigorous exercise and they lack enough oxygen blood symptoms of sickle cell anemia may appear (Sun et al. 1255). The behavior is so because these individuals have both normal and abnormal hemoglobin. AS individuals, are termed as carriers of the gene. Sickle cell disease is thus inherited through genes from the parents to the child. The passed on genes have messages that are usually passed to the eggs of the mother and the sperms of the father. Qualities such as blood type, eye color of a person and their hemoglobin are controlled by these gene messages.
For an infant to have sickle cell traits every parent has to have abnormal hemoglobin. Among the possibilities is that all the parents may have AS alleles, the other possibility is when one of the parents has AS sickle cell trait while the other has SS disease. In the mild sickle cell disease, one of the parents has to have the sickle cell trait while the other hemoglobin C that is a different trait. In the sickle beta thalassemia, one parent has to have sickle cell anemia or the sickle cell trait while the other parent is a carrier of the beta thalassemia trait.
Sickle Cell Anemia (SS)
Of all sickle cell diseases, anemia is the most common and the inherited hemoglobin types determine the shape of the red blood cells. In the case when all the parents carry the sickle cell trait there is 25% chance that their child will have AA that is normal hemoglobin (Yazdanbakhsh 528). A 50% chance that the infant will have AS Sickle cell trait also exists and lastly a 25% chance that the kid will have SS Sickle cell trait exists. The percentages are similar all through the mothers’ pregnancy. In Africa, this type of sickle cell disease is common since it is caused two recessive alleles. The gene pool encompasses of the highest number of these alleles in Africa (Sun et al. 1255). The case of sickle cell anemia in Africa is similar to Russian Aristocracy and hemophilia.
Sickle Hemoglobin C disease
The Sickle Hemoglobin C disease is the mildest form of the sickle cell disease. In this trait, the child inherits from the parents two abnormal hemoglobin that is S and C. In Africa 1 out of every 1000 African infants is born with the Sickle Hemoglobin C disease. When one of the parents has AC, and the other has AS, there is a 25% percent chance that the infant will have AS, AA, SC or AC disease. Children with AC and AS, in this case, are just carriers and not sickle cell disease.
Sickle Beta 0 Thalassemia
Clinically, Sickle Beta 0 Thalassemia is similar to Sickle Cell Anemia, and it affects one in every 10,000 African children. It occurs when one of the parents has Thalassemia Zero Trait, and the other has AS. A 25% chance of the child having normal hemoglobin and AS and this goes all through the mother’s pregnancies.
Sickle Beta Plus Thalassemia
This term is represented by (ST+) and charts as the least mild form of the Sickle Cell Disease. It occurs in one in 4000 of African-American origin. When one of the parents has Beta Thalassemia Plus Trait (AT+), and the other has AS, there is a 25% chance that their baby will have a normal hemoglobin, AA, AS, (AT+) and (ST+). Moving forward these changes is steady for every pregnancy.
Hemoglobin C Disease
Everyone in 6,000 African Americans has this condition, and it comprises of minor abnormalities of the gene, hemoglobin. When all parents have the C Trait, there is a 25% chance that their child will have AA or CC that is Hemoglobin C disease and a 50% chance that they will show traits of AC that is Hemoglobin C Trait.
The Newest Treatment
Traditionally Sickle Cell Disease was treated using antibiotics, hydration, and analgesia. According to studies, in extreme conditions blood transfusion is crucial and important especially when the individuals blood count is severed and the chest syndrome. The purpose of the blood transfusion is to provide and increase a person’s blood count before the red blood cells star making their blood. The newest and approved method of sickle cell disease according to researcher and practitioners is Hydroxyurea.
Newest Treatment
Hydroxyurea
Hydroxyurea is a drug that is used by doctors to treat cancer, and the Food and Drug Administration approved it in February 1998. The approval was for the adults with sickle cell disease. According to "Hydroxyurea treatment for sickle cell disease", Hydroxyurea has been found to be beneficial to individuals suffering from sickle cell disease (Steinberg 1706). The benefits of this drug are seen in the increased numbers of the hemoglobin F in the adults that is the fetal hemoglobin. The function of the hemoglobin in the blood is to carry and to deliver oxygen to all the tissues in the body. It is a protein found in the red blood cells. Before infants are born, they produce fetal hemoglobin that protects them against some of the adverse effects or rather impacts of sickle cell disease. After birth, during the first six months the feta, hemoglobin in the baby decreases while an increase in si...