The Treatment and Prevention of Hereditary Diseases: Sickle Cell Anemia

The topic for this assignment is about hereditary diseases. Hereditary diseases are a disease that is inherited by gen. The disease is passed from the previous generation to another generation through genes and these diseases are transmitted in one same family. The genetic issue is caused by abnormally formed in the genome. For my assignment, I am going to study and discuss Sickle Cell Anemia. What is sickle cell anemia? Sickle cell anemia can also call as sickle cell disease. Sickle cell anemia is one type of hereditary disease. Sickle cell anemia is the normal adult hemoglobin caused by a mutation that can be transmitted through genes that are passed on to the next generation. (Chakravorty & Williams, 2015) If the normal red blood cell is biconcave shape but if the person who got this disease, their red blood cell will turn into the abnormal sickle cell which is low oxygen levels and it will also block the blood flow.

There are many type of sign and symptom for this sickle cell anemia disease such as fatigue, ulcers on the lower part of the leg, delayed growth and puberty, joint pain, fever, attack abdominal pain, eye damage, chest pain, dactylitis, bloody urination and etc. when those people that got this disease, they will feel fatigued and tired. They feel tired is because lack of oxygen reaching the muscles and other tissues and sickle cell anemia also will cause inflammation and chronic pain, which can also interfere sleep and that also will lead to fatigue or tiredness("Sickle Cell Anemia and Fatigue," n.d.) Secondly, if the person who got this sickle cell anemia disease, their lower part of their leg will develop ulcers, but this sign mostly will happen during the age of adolescence and adult. Once the person who got this sickle cell disease, the ulcer that grown on their lower part of the leg. They will feel terrible pain, hard to treat and frequently recurrent. (Khatib & Hayek, 2016, para.3)

Besides that, delayed growth and puberty also one of the symptoms of this sickle cell anemia disease. Why the person who got this disease will affect or delayed their growth and puberty? This is because the red blood in our body does not provide us enough oxygen and nutrients that we need for our growth. The person who get sickle cell anemia diseases, their red blood cell will become abnormal. Once the red blood cell is abnormal, they will not get enough oxygen, nutrient and this will cause delayed growth and puberty. Another sign is joint pain, the person who has this disease will have this joint pain symptom. This sign is only will occur in adolescents and adults because it also has the chronic pain that will cause the joint damage. Fever is a very usual symptom of this disease.

Fever will happen when the victim is facing viral infection. Other than that, this disease also will cause a sudden attack abdominal pain. The person who got this disease, they also will have some sight issues. The worse will damage their eyes. Chest pain is also a symptom of this disease, the person will suddenly feel their chest sudden pain or sharp pain. The last two symptoms are dactylitis and bloody urination. For the dactylitis is the person who got this disease, their hand and leg swollen and pain. This is because their blood vessels in their bones and other tissue had been blocked. Lastly, bloody urination is also a symptom of this disease.

The main causes that cause this disease is gene mutation and this disease is inherited by the upper generation and it cannot be avoided. It means that both mother and father must have this disease then only the children will be affected. If only the mother or father has this disease, their children will only have the sickle cell trait. Their body will have some of the sickle cells but they do not have any signs or symptoms. But once the parents are the carriers of the cell, which means that the children maybe can get these diseases through their parent’s gene.

Every diseases might have some treatment to treat diseases. For this disease, I found several treatments that maybe can treat this disease. the first treatment is medication. Medication included antibiotics, pain-relieving medications, and Hydroxyurea. Antibiotic treatment is for those children that are newly born. If the baby born out and they have this disease if the parents want the baby to have medication. The hospital will ask them to take this antibiotic penicillin. This medication must start when the baby is around 2 months old and this medication must continuously take it until the baby at least 5 years old.

For an adult, they might take penicillin throughout their life. When the person who got this disease, they might face the crisis, the doctor will advise them to take this pain-relieving pain medication. For Hydroxyurea, if the person who consumes this medicine daily, it can reduce the painful crises and it also can reduce the need for blood transfusions. The second treatment is assessing stroke risk. The hospital will use a certain ultra-sound machine check which children or victim that have a high risk of stroke. This treatment is a painless test, the just use the sound wave to check the blood flow because if the blood flow is irregular, the chances of stroke are very high. Systematic blood transfusion can help to decrease stroke risk. Besides that, vaccinations to prevent infections is also a treatment for this sickle cell anemia. At a young age, vaccination is to put a stop to disease in the children.

The doctor will ensure that the kids receive all the recommended vaccination that is needed by the children. Furthermore, the person who gets this disease also can treat their disease through this treatment which is blood transfusions. Because this treatment can increase the number or amount of the red blood cell in the body circulation that helps to relieve anemia. This treatment carries some risk including infection and extra iron buildup in the body. This is because if there is extra iron in the body, it can damage the heart and other organs. The last treatment is bone marrow transplant whereas this treatment takes time to stay in the hospital. For this treatment, the first procedure is to find a matched donor who does not have the same diseases and to get their bone marrow. This treatment is only recommended for people usually for children.

At last I want to conclude that sickle cell is a hereditary disease and this disease is passed by their previous generation or parents. This disease has a lot of signs and symptoms. This disease also has several treatments to treat this disease. All the treatment that I stated is only aimed to avoid crises, relieve sign and prevent complications. At last, I want to say thank you to my beloved lecturer allow me to learn what is sickle cell anemia and now I gain a lot of knowledge when I doing this assignment.