Genetic Disease; sickle cell anemia

Genetic disease is a health complication that occurs as a result of gene linkage or mutation phenomena. According to Ott, “Genetic linkage analysis refers to the ordering of genetic loci on chromosomes and to estimating genetic distances among them, where these distances are determined on the basis of a statistical phenomenon. That is the cross over frequency occurring between two points on a gamete. (Ott, 1999, p, 1) Sickle cell Anemia is one of anemic kinds that are inherited. It was first discovered by James B. Herrick in a black student from the Caribbean in 1910.

It is reported that the victim who was twenty years old had been suffering from pustular lesions and general weakness. These symptoms were closer to anemic related type of complications. Sickle cell anemia is therefore a disease that affects a person who inherits the mutated gene from both parents. Sickle cell disorder is linked to complication of the red blood cell. This type of cell is very important in the life of a human being, as it is responsible for containing a molecule known as heamoglobin, which is a prime transporter of oxygen from the lungs to other parts of the body system.

“Normally red blood cells have a plump drought nut shape. In some cases, however a person’s body makes red blood cells that are curved with sharp points at the end. They are called sickle cells because they look like a sickle. ”http://www. fays. org/health/sick. 04/sickle-cell-anaemia. htm/ Red Blood cells constitute of chemical unit composition known as genes. The genes carry the message and substances that influence or facilitate the growth of hemoglobin molecules. When there is inconsistency in terms of composition and shape of the gene, it results to miscommunication, which sends wrong signals for growth facilitation.

Due to miscommunication, a wrong message is coded thus resulting in formation of defective hemoglobin, which thereafter creates a sickle cell anemia complication. This is an inherited blood disorder. Sickle cell anemic disorder is formed by passage of defective genes from both parents to their children. Medical physician have proved that children who get this disorder from only one parent are safe and free from sickle cell anemia. This is a fundamental fact that should be passed to many communities.

African communities having little knowledge about the occurrence of sickle cell anemia have strongly condemned their partners for the cause of the disorder. The myths that surround this disorder are alarming. It is always linked to generational curse and to some extent some families’ are separated. (Tappler, 1998, p, 1-50) Children who receive only one defective hemoglobin are referred to as carriers. This defective hemoglobin may in the future time, manifest positively in case the person is in contact sexually with the one of the opposite sex who also has defective hemoglobin.

The surprising thing noted is that, “being a carrier of this particular defective gene may actually increase a person’s resistance to malaria, a dangerous disease,” http://www. /faqs. org/health/sick-k4/sickle-cell-anemia. httm/ Sickle cell anemia is deemed to be more common in Africa, Mediterranean, Middle East and Indians. Since the disorder is genetically engineered it explains best the reason why many Africans have continued to loss their lives. It is estimated that about 250,000 children are born with sickle cell annually.

This statistic is on the rise and there is need to intensify on preventive measure to curb the trend particularly in Africa. Based on the misconception that surrounds the existence of this deadly disease, it is important to once more lay emphasis on how sickle cell comes to being. Sickle cell anemia is a disorder instigated by reception of an abnormal shaped hemoglobin gene from both parents. This consequently, directs the body to make abnormal red blood cells, which clumps and in most cases tends not to live as long as normal red blood cells.

The person who is suffering from anemic is believed that there is possibilities of becoming anemic and even develop other health related problems. (Beshore, 1999, p 5-20) Sickle cell anemia is associated with a bundle of numerous problems. In the first place, sickle cell anemia person copes with the presence of defective cells. These cells are generally weak and cannot withstand competively with the normal Red Blood Cells in terms of carrying out their functions. The sickle anemic cells die more rapidly than the normal cells.

Since the body system is under deformity, it is always challenging to replicate adequate cells to fast track the loss. This condition may result to anemia because the body lacks sufficient red blood cells. Sickle cells have likelihood of occurrence of sticking to one another and even against the walls of the blood vessels. As they clump and build upon one another, they can eventually limit or even block the flow of blood circulation in the body thereby denying them the oxygen they need for survival thus resulting to the death of the cells. (Bloom 1995, p 20-63)

Subsequent deposition of dead cells against the blood vessels has a greater healthy related problem. It has been proved that when blockages continue for quite some period of time the resultant outcome is blockage of the vessels. Due to increased pressure, it bursts and dangerous and harmful substances may get to the brain thus damaging the brain thereby resulting to stroke. Symptoms of Sickle cell are known to show up between the period of one year and two years age of a child. However, there are some exceptional cases, where the symptom shows at an adult age.

This is harmful since the patient might not realize early the dangers of this type of complication. Salvaging the situation at an adult age is also very challenging and technical and the patient may lose the life. Early symptoms are therefore preferable as compared to late appearance of symptoms (Silverstein 1997 p, 13-30) The symptoms of sickle cell includes anemia, which is a situation in the body where the patient suffers from lack of adequate red blood cells in the body. It can result into fatigue, paleness, shortness of breath, headache, mild fever and general illness.

One who is suffering from sickle cell may also experience periodic pain that strikes in any part of the body without notice. The pain may last for considerable amount of time or for few hours to a few weeks pains in the hand and in the hand and in feet are sometimes the earliest symptoms of sickle cell anemia in a child. (Kell 1999 p 1-20) Sickle cell may cause enlargement and other related organ infections due to blockages experienced in the blood vessels. This is because the organs never receive sufficient oxygen sustain normal growth.

The spleen is particularly at risk and may cease functionality completely. Children who are sickle cell patient do experience retarded growth. They may also get to their puberty stage at a latter date. Due to blockages of the blood vessels in the lungs the patient also feels acute chest syndrome. This might be accompanied with fever, cough, chest, pain and shortness of breath. Another symptom experienced by sickle cell patients is stroke. This is a complication of the brain that develops when the blood vessels in the brain breaks and the contents affect the brain.

It may also suffer from deficiency of oxygen resulting in numbness on one side of the body, loss of vision or the ability to speak and may experience dizziness. Sickle cell anemia cannot be cured. However, prescriptions for its symptoms are available. One of the approaches to respond to sickle cell is by managing the pain. Painkillers such as aspirin and acetaminophen may counter the pain on some patients while others need stronger painkillers. The danger of aspirin on children should not be out looked. Aspirin causes Reye’s syndrome.

Another response is through blood transfusion for extreme situations such as severe anemia or particulars bad epidoses or pain. Early realization of the complications is good since there do exist an infants antibiotics that prevent infections. It is reported that such antibiotic may be effective and efficient for up to six months. Bone marrow transplantation is another approach adopted to remedy severe cases of sickle cell. It is based on the fact that new blood cells are made in the marrows of the bones. Marrow is taken from a healthy donor then ejected on the bones of a sickle cell patient.

Successful marrow transplants result into instant replication of normal cell rather than defective cell. Research has also revealed that bone marrow transplantation is a very risky procedure with limited changes of success. http://www. fag. org/health/sick-v4/sickle-cell-anemia. htm/ Sickle cell anemia is a genetically instigated disorder and therefore there is no prevention for the disease other than genetic screening. However, genetic screening is very expensive and therefore the poor can not afford. There is therefore need to create genetic screening fund to help individuals who are not able to afford such on their own.

Adult carrier may need to make a personal decision whether they want to make children or not. This is always a hard decision to make especially within many Africa communities where the child is a basic unit and parcel of the family. Other than treatment, patients suffering from sickle cell need a greater emotional support particularly from their parents. This will work effectively to maintain the spirit of the patients and make them understand that it is not their fault to be in such condition. Further more suffering from such disorder does not limit their ability to social interactions.

However, children suffering from sickle cell should not engage themselves to heavy duties that demand an increased supply of oxygen in the body. Based on the above discussion, sickle cell anemia is a disorder that comes as a result of mutation of defective genes. However, the patients do have a higher chance for survival since treatment for many of its symptoms are available. Despite the health related complication envisaged from patient diagnosed with sickle cell, the patients with the disorder are manageable. References Allison R. (2000) Anemia. The Rosen Publishing Group

Beshore G. (1994) sickle Cell Anemia New York: Franklins Wath Inc. Bloom (1995) Understanding sickle Cell disease. Jackson Ms: University Press of Mississippi Ott (1999) Analysis of Human Genetic Linkage 3 Ed Bahimure: the John Hopkins University Press Tupper M. 1998 Sickle cell Anemia and the politics of Race, Philadelphia: University of Pennsylvania. Well, Pat 1999 coping with sickle-cell anemia. New York: the Rosen Publishing Group Sickle cell Anemia. Definition Description, causes, symptoms retrieved from www. Fags. org. /health/sick-v4/sickle-cell-

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