Introduction
Sickle cell is among the most common diseases affecting people all over the world. Sickle cell is a term used to refer to a group of disorders that affects the hemoglobin. Hemoglobin is a molecule in the red blood cells, and it plays a crucial role in distributing oxygen to all cells throughout the body. Patients with this disorder have a crescent or sickle-shaped red blood cells caused by the presence of atypical hemoglobin molecule known as hemoglobin S, (Bender, 2017). This unusual hemoglobin hinders the red blood cells from performing their main roles of delivering oxygen to body cells leading to abnormal functioning of the body. The atypical hemoglobin molecule is miss-shaped, sticky and rigid preventing the regular supply of oxygen to body tissues and cells.
Causes of Sickle Cell Disease
The root cause of sickle cell disease is mutations specifically in the HBB gene. One of the variations of the HBB gene leads to the production of the hemoglobin S (HbS) which is an abnormal version of the beta-globin. Other strange versions of the beta-globin that can be caused by the mutation are the hemoglobin E (HbE) and hemoglobin C (HbC), (Kato, Steinberg, and Gladwin, 2017). Furthermore, these mutations can trigger an abnormal production of beta-globin in the red blood cells a condition usually known as beta thalassemia.
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Children who are carriers (Sickle cell trait) = AS, SA (50 %)
Children with sickle cell =SS (25 %)
Children without the gene =AA (25 %)
For a sickle cell to occur, at least one of the beta-globin subunits must be replaced with hemoglobin S. Sickle cell anemia, which is a widespread condition, happens when hemoglobin S replaces both beta-globin units, (Piel, Steinberg, and Rees, 2017) . In the other sickle cell diseases, hemoglobin S replaces only one subunit beta-globin subunit with the other replaced by another atypical version such as hemoglobin E. S-beta thalassemia disease (HbSBtaThal) is a condition caused when the mutations producing beta-thalassemia and hemoglobin S occur together, ( Bender, 2017) . The abnormal beta-globin translations distort the red blood cells into sickle-shaped. The distorted red blood cells die prematurely, and this can easily result in anemia. Also, severe medical complications arise from the inflexible; abnormal red blood cells get still in narrow blood vessels.
Signs and Symptoms of Sickle Cell Disease
The sickling of the red blood cells causes the signs and symptoms of sickle cell. The rigid sickle-shaped red blood cells with less flexibility get stuck in small blood vessels contributing to various complications. Anemia, which is a result of the premature breakdown of red blood cells, is caused by the sickling. Anemia has several symptoms such as fatigue, shortness of breath and delayed children growth and development, swelling in the arms and feet, pale skin and yellowing of eyes as well as damaged vision, ( Bender, 2017) . Another common symptom of sickle cell anemia is periodic episodes of pain commonly known as crises. The pain is felt in the joints, abdomen, and chest due to the abnormal red blood cells blocking tiny blood vessels supplying oxygen to these areas, (Patterson et al, 2018). The pain can last for several hours in a week and vary in intensity. The illness may be so severe to the extent that the affected individual has to be hospitalized. Vessels supplying blood to the feet and hands may be blocked thus causing swelling of the feet and hands. The swelling may be accompanied with a lot of pain due to breakdown of body tissues and cells as a result of accumulation of fluid in these parts, ( Bender, 2017) . Sickle cell is typically diagnosed in infancy, and several signs can raise the red flag. These signs include pale skin, symptoms of stroke, fever, swelling in the feet or hands, inexplicable episodes of pain, abdominal swellings and yellow tint to the whites of the eyes, ( Bender, 2017) . The pale skin and yellow tint to the whites of the eyes is caused by poor blood circulation to these organs of the body. Sickle cell disease also causes aseptic necrosis which is a condition of localize bone death. The sickle shaped red blood cells may block supply of blood to a given are of bone in the body and this can eventually lead to aseptic necrosis. The specific area of the bone will lack nutrients and oxygen causing the cells and tissues to weaken and eventually dying. The bone would not be able to carry out its functions and this easily makes the patient paralyzed.
The relationship between Sickle Cell Disease and Ethnicity
Sickle cell is a disease that affects people of all ethnicity all over the world. The sickle cell trait is present in more than 100 million worldwide, ( Huttle et al, 2015) . However, there is a higher frequency of the infection in some areas and people compared to others. A close look at the regions and people exhibiting upper sickle cell infections reveal a common trend. Sickle cell is most common among people of African, Mediterranean, Caribbean, Indian and Arabic Peninsula origin, ( Huttle et al, 2015) . Research shows that sickle cell is the leading hereditary blood illness in the United States. Statistics show that between 70000 and 80000 Americans are suffering from this disease, ( Ware et al, 2017) . However, it is more common among Americans of African and Hispanic Americans. Estimations say that one in every five hundred African Americans is suffering while the condition is likely to occur once in every one thousand Hispanic Americans, (Huttle et al, 2015). The condition is generally more prevalent among the Africans and African Americans whose genetic make-up is closely related to that of the Africans.
Research shows that people with sickle cell have a high resistance to malaria infection, (Ribeil et al, 2017). Since malaria is more prevalent in Africa and some parts of India, it is more logical that natural mutations triggered the production of the atypical hemoglobin to cope with the infection. The disease is inherited; thus, the African American acquired the genes from their African descendants who were brought to America as slaves. The same happened for the same ethnic groups which lived in areas with high malaria prevalence. Due to civilization and intermarriages between people from different ethnic backgrounds the recessive sickle cell trait was spread all over the world.
The relationship between Gender and Sickle Cell Disease
Is sickle cell more dominant in men or women? Why is it so? These are a common question that we hear in most discussions about sickle cell. However, gender is not a risk factor for this disease. Therefore, both male and female have equal chances of acquiring the disease provided all the other elements are constant. This is primarily because the sickle cell is not an X-linked disease, (Ribeil, et at., 2017). A person suffering from the sickle cell is also likely to have frequent infections since the sickle-shaped red blood cells can easily damage an organ such as the spleen which helps in fighting disease. If such an organ is damaged an individual becomes more susceptible to infections..X-linked recessive inheritance involves a mutation in a gene on the X chromosome causes the phenotype to be expressed in males and in females who are homozygous for the gene mutation. Since sickle cell is not X-rated, it is not gendered sensitive in any way. The HBB gene is handed from generation to generation through autosomal recessive inheritance. Both parents must have this recessive gene for a child to acquire sickle cell disease. The hemoglobin molecule is made up of 4 subunits, archetypally, two alpha-globin units and two beta-globin units, (Bender, 2017). The HBB gene usually provides the instructions for the making of the beta-globin; thus, different mutations of the HBB gene produce various beta-globin versions.
Growth and development require the body tissues and cells to receive sufficient supply of oxygen and nutrients which is not possible with the abnormal sickle-shaped red blood cells. If the abnormal red blood cells break down rapidly, it can cause jaundice which is usually characterized by the yellowing of the skin and the eyes. This blockage can cut oxygen delivery to body tissues and cells especially in very critical organs such as the brain, spleen, kidneys, and lungs. Such a condition causes a severe complication that can easily cause death. Another severe symptom of sickle cell closely related to the blocking of blood vessels by the sickle-shaped red blood cells is pulmonary hypertension, (Bender, 2017). Pulmonary hypertension is a condition of high blood pressure in the arteries that supply the lungs. These characteristics are experience by both genders in equal measure which proves that sickle cell disease is not gender sensitive.
Masculinity or feminism do not feature where vision problems are involved. The rigid nature of the sickle-shaped red blood cells greatly contributes to this condition. The blood vessels supplying the eyes are usually very tiny, and it is more likely for the rigid, sickle-shaped red blood cells to get plugged inside. This can rapture an empathetic part, the retina, which process visual images thus easily resulting in vision problems
Risk Factors
The risk factors for sickle cell disease are the factors that make an individual more likely to suffer from sickle cell diseases. The risk factors for the sickle cell disease include family history, race and local prevalence of malaria (Piel, Steinberg, and Rees, 2017). Family history is a crucial risk factor since this condition is inherited through autosomal recessive inheritance. Individual comings from parents who have records of the situation are very likely to have the sickle cell disease or become sickle cell carriers. Ethnicity or race is another risk factor since the condition is more frequent in African American populations and Hispanic Americans. Local prevalence of malaria also increases the chances of having sickle cell diseases since the situation is well known for increasing resistance against malaria. Thus, the process of natural selection has triggered the mutation of the HBB gene of individuals in these areas to increase their chances of survival in the result increasing the sickle cell prevalence with more than 30 percent, (Ribeil et al, 2017). This is the reason the condition is prevalent among Africans and African Americans since malaria has been prevalent across a large part of Africa.
Sickle Cell Disease Diagnosis
For this disease to be diagnosed accurately numerous blood tests are required to be done since the central pathology of the condition occurs in the blood. The presence of atypical sickle-shaped red blood cells and reduced number of red blood cells enable medical practitioners to detect the disease. This condition usually is diagnosed in infancy, but it can also start at a later stage based on other complicated factors. An agent that catalyzes the sickling in blood is used in situations where early tests do not reveal the presence of the sickle cell disease, (Dampier, et al., 2017). Hemoglobin electrophoresis is the process that enables the conclusive diagnosis of the condition so that the patient can start the available treatment procedures.
Episodes of sequestration and infections from other illness make people diagnosed with the situation to die within the first few years of their life. However, there are recorded scenarios where other patients have lived a relatively extended life span than expected, (Pecker and Little, 2018). Depending on the severity of the sickle cell disease and an individual's immunity system, others have lived an average life span with very minimal complications.
Treatment of Sickle Cell Disease
The steady-state sickle cell anemia does not necessarily require surgery. There are precipitating factors such as infection, hypoxia, acidosis, hypothermia, and dehydration that have to be evaded or get treated very quickly whenever they manifest. Other conditions that may require medical attention include swollen feet and arms, neurological constraints, as well as blood vessel blockages that may lead to pain in the liver, spleen, intestines, and kidneys, ( Kato, Steinberg, and Gladwin, 2017) . Gall bladder problems also frequently manifest among sickle cell patients, and they should be given rapid medical attention.
To reduce the risk of pregnancy complication, pregnant patients and patients with severe hemolysis are administered with folic acid, (Kato, Steinberg, and Gladwin, 2017). In the event of acute attacks, patients are given supportive therapy with adequate analgesia, antibiotics, oxygen, and intravenous fluids. Sickle cell disease is known to cause severe chest pain which usually requires pain relief, enhanced oxygen delivery, exchange transfusion, and antibiotics. There is no known cure for the sickle cell disease but the most used remedy to manage the situation is regular transfusion. In emergency or conditions of severe crises, exchange transfusion comes handy. Sometimes sickle cells may accumulate within the spleen especially among young children. In such a case a combination of bleeding and removal of the spleen may be the only option to save the life of the young patient.
Conclusion
Sickle cell disease is a prevalent condition all over the world affecting so many individuals. The disorder causes sickle cell disease in the hemoglobin, a molecule in the red blood cells and it plays a crucial role in distributing oxygen to all cells throughout the body. Patients with this disorder have crescent or sickle-shaped red blood cells caused by the presence of atypical hemoglobin molecule known as hemoglobin S. This unusual hemoglobin hinders the red blood cells from performing their main roles of delivering oxygen to body cells leading to abnormal functioning of the body.HBB mutation is the primary cause of sickle cell disease. The HBB gene is handed from generation to generation through autosomal recessive inheritance. Both parents must have this recessive gene for a child to acquire a sickle cell. The hemoglobin molecule is made up of 4 subunits, archetypally, two alpha-globin units and two beta-globin units. The HBB gene usually provides the instructions for the making of the beta-globin; thus, different mutations of the HBB gene produce various beta-globin versions. Sickle cell disease has several symptoms such as fatigue, shortness of breath and delayed children growth and development. Another severe sign of sickle cell closely related to the blocking of blood vessels by the sickle-shaped red blood cells is pulmonary hypertension. Pulmonary hypertension is a condition of high blood pressure in the arteries that supply the lungs. Other common signs and symptoms of the disease include swelling of the feet and arms, pale skin and eyes, vulnerability to infection and vision problems. Although the condition does not have an exclusive cure, it can be diagnosed through a process known as hemoglobin electrophoresis. The state them can be managed through periodic medical attention such as transfusion in the event of severe conditions.
References
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