Sickle Cell Anaemia: Causes, Symptoms and Treatments
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Blood disease is a disorder or disease which will affect one or more parts of the blood, preventing our blood from performing its job in an effective rate. Sometimes, it is also known as blood disorder (Martin, E.A., ed., 2010). Nowadays, there are many types of blood diseases and they are growing public health problems affecting many countries, races and also ethnic groups. They can be classified into acute or chronic. Some of the them are inherited and can cause death.
Sickle cell anemia (SCD) is a serious inherited genetic condition which affects the haemoglobin molecule within the red blood cells. It is a condition in which there are lack of healthy and normal red blood cells to carry sufficient oxygen throughout our bodies. The people with sickle cell anemia normally have deformed red blood cells which look like sickles or crescent moons (Mayo Clinic, 2011). This is because the sickle cells contain haemoglobin S or sickle haemoglobin which is an abnormal haemoglobin (MedlinePlus, 2010). The unusual C - shaped cells which look like a farm tool called sickle give the disease its name (CDC, 2011). The alternative names for sickle cell anemia are sickle cell disease or sickle cell disorder, haemoglobin SS disease and HbS disease (NHLBI.NIH, 2011) .
Today, millions of people have been diagnosed with sickle cell disease. This type of blood disease is much more common in Africa and Mediterranean (PubMed Health, 2012). About one of every 12 African Americans will carry the sickle cell trait in a person's genes (MedlinePlus, 2012). Apart from that, it is estimated that 90 000 to 100 000 people in the United States mainly Blacks or African Americans are affected by sickle cell anemia. About one of every 500 Black newborns and one out of every 36 000 Hispanic-American newborns will have this blood disease (CDC, 2011).
There are two risk factors that can increase the chances of getting sickle cell anemia which are inheritance and mutation. First of all, sickle cell anemia is an autosomal recessive genetic blood disease which the sickle cell gene will pass from generation to generation. To have this disease, the defective form of the gene must be inherited to a child from both of the parent. A child will have sickle cell trait if the sickle cell gene is passed from only one parent. A person is known as the carrier of sickle cell anemia if he or she has one normal haemoglobin gene and one defective form of the gene. In addition to, the defective gene can be passed to next generation and affect them. While, if both of the parent are carrier, a 50% chance of getting a child who is carrier, 25% chance of having a child who is normal and another 25% chance of having a child with sickle cell anemia (FamilyDoctor.org, 2006). Besides, substitution is a kind of gene mutation which cause this blood disease to occur. The gene mutation is caused by the mutagens which are physical or chemical substances that can affects the genetic material of an organism. Hence, the person who always stays in environment with a lot of radiation or mutagen, he or she has higher risk of getting this disease (Gan Wan Yeat, 2010). This type of blood disease can be prevented if the married couples who both carry the sickle cell trait gene do not have any children. By doing this, the recessive gene will not passed from a generation to another generation .
A normal person has haemoglobin A genes which are HbA. If the person who suffers from sickle cell disease, he or she has two haemoglobin S genes (HbS) which are inherited from both parent. These HbS genes are caused by the gene mutation. The base sequence in the DNA for the synthesis of haemoglobin is changed by a single substitution. Hence, the glutamic acid codon is now instead of valine codon (BBC, 2010). When the oxygen content of an affected person's blood is low, the sickle cell hameoglobin will aggregate into long rods that deform red cells into a sickle or crescent shape which are abnormal haemoglobin (Reece, J.B., et. al., 2011). Besides, these sickle red blood cells are rigid and sticky. This results in less oxygen is delivered to the body's tissues (MedlinePlus, 2012).
The symptoms and signs of sickle cell anemia usually become more obvious after an infant is 4 months old and they are varying. The most common symptom of this disease is painful events. They are sudden pain that happens in different parts of the body. This pain is also known as 'sickle cell crisis'. Usually, the sickle cell crises can cause pain in the hands, bones, legs, abdomen and so on. This is because the sickle cell get stuck in the small blood vessel as they travel, interrupting the healthy blood flow (National Marrow Donor Program, 2007). People who suffer from sickle cell anemia normally have anemia which will make them feel tired and weak. This is caused by the shortage of red blood cells. Furthermore, they will look pale (WebMD, 2010). Apart from that, the other symptoms of sickle cell anemia may include shortness of breath, blindness, delayed growth, hand-foot syndrome and so on. If it is not treated, stroke, infections, acute chest syndrome and organ damage are the effects of sickle cell anemia (genomics.energy.gov, 2005).
Bone marrow transplant is the only cure for sickle cell anemia. However, it is difficult to find a donor who is matched with the recipient and the procedure has serious risks and can even cause death. There are many types of treatments for this blood disease including medication. Children with sickle cell anemia can be treated by using antibiotic penicillin in order to help prevent infections. While pain - relieving medications are responsible in relieving pain during sickle cell crisis. The frequency of painful crisis also can be reduced using hydroxyuera. Moreover, blood transfusions are another type of treatments for sickle cell anemia. The blood transfusion can help to relieve anemia by increasing the number of normal blood cells in circulation (Mayo Clinic, 2011). This is because the sickle shaped cells live only 10 to 20 days which is much shorter than the normal red blood cells. Furthermore, a balanced diet is needed. The supplements of folic acid, vitamin D and zinc should be taken in order to help make new red blood cells. Alcohols and cigarette smokes should be avoided (FamilyDoctor.org, 2006).
As a conclusion, sickle cell anemia is a chronic blood disease that cannot be underestimated. This is because there is no cure for the people with this blood disease. Nevertheless, there are many types of treatments and prognosis can help to prevent further problems which are associated with this blood disease. Prevention is better than cure. Hence, people from all walk of life should working out preventive action to avoid them from getting this severe and rare disease.
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