Genetic Disorders: Causes and Treatment

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Table of Contents

Introduction
Genes
Genetic Disorders
Causes of genetic disorders
Treatment of Genetic Disorder
Effects of genetic diseases
Conclusion
References

Introduction

Genetic diseases are inheritable diseases which can be passed from the parents to the offspring’s. Hereditary diseases are very harmful when allowed to run through generation. If there is history of a genetic disorder within their family, they should ensure that they take the necessary steps to minimize it without necessarily going for a DNA test. The most important way is to avoid marriage unions within the family institution.

Secondly, the family should learn how to interact with people with such disorders to prevent further spreading. The paper is going to outlines some of the genetic disorders, what causes them and necessary measures of treatment.

The paper will also discuss reasons as to why parents should not have their DNA tested, why those with higher chances of getting genetic disorders should not be charged more by insurance companies and finally support the fact that people who refuse to have their DNA tested should not pay more to insurance companies.

Genes

Genes are molecular units that carry the hereditary material in an organism. They are segments of the DNA that determine the characteristics of individuals. For instance, physical characteristics like body size, height and color are determined by genes. Genetic disorders are also passed from the parent to the offspring. The individual inherits some of the characteristics from the mother and the rest is inherited from the father.

Heredity plays a major role in determining whether an individual will be bright or a great athlete among other abilities. However, the environment in which an individual is exposed to may be of great influence to his/her interests and abilities. These include the kind of people an individual interacts with, foods and substances consumed and place of residence.

Sometimes changes occur in the composition of genes in a process called mutation. Mutation occur when genes are growing old or due to exposure to chemicals and radiation. Mutations are however detected by cells and repaired. Gene mutations cause diseases if not repaired. Children inherit mutated genes from the sperm and egg cells of their parents (Lashley, 2005).

Genetic Disorders

Genetic disorders arise as a result of abnormal functioning of genes. Human body carries harmful genes. Some of these genes are recessive such that people may not realize that they carry them. Effects of the genes will be felt only after exposure to environmental changes. However, the effects of some genes are manifested before or from the birth of a child.

According to a study conducted by the Royal College of Physicians in the United Kingdom, about 3% of the total number of children is born with genetic disorders. It is approximated that a population of about 13,000 births suffer from genetically related diseases in the United Kingdom. The condition may take some time before manifesting itself or it may manifest itself during the early stages of life (Swarts, 2009).

Causes of genetic disorders

Genetic disorders are caused by many factors. Genetic disorders may be passed from the parents to the offspring’s during the process of fertilization. If one of the parents has a genetic disorder, he/she may pass the disorder to the unborn child. The chances of getting the disorder are even higher when both parents have the disorder. Examples of inheritable diseases include sickle cell anemia and hemophilia.

Secondly, the environment in which an individual lives increasing the chances of contracting genetic diseases. People living in mosquito breeding areas where malaria attacks are high are likely to contract sickle cell anemia. The disease is characterized by sticking together of the hemoglobin producing blood cells in the shape of a sickle. The body does not have sufficient supply of oxygen because red blood cells are few.

Some of the genetic diseases like tuberculosis are air-born. Living in poorly ventilated houses with such people increases the chances of getting the disease. Sharing personal items like clothing and utensils may also lead to attacks (Doak, 2011).

Some people are allergic to some things like foods, smells and dust. Exposure to such things may lead to genetic disease. For instance some people get tuberculosis out of dust allergies. Climatic changes may influence individual health negatively. Movement of people to new areas increases the chances of getting some diseases. Finally, meiosis may contribute to genetic diseases.

The process involves combination of genes during which exchange of genetic materials takes place. Problems occur when chromosomes undergo abnormal combination. For instance, some information may be lost (deletion), inverted (translocation) or multiplied (duplication). Diseases related to abnormal combination of chromosomes include Cri du Chat syndrome and Down syndrome (Doak, 2011).

Treatment of Genetic Disorder

Genetic diseases cannot be cured but medical measures can be applied to minimize its effects. For example, Porphyria variegate is a genetic disease commonly found in South Africa. Victims find it hard to walk during the day because the effects of the sun make them develop rashes on their skin.

However, staying in shade is the solution to the problem. Staying in a shade does not mean that the person is cured because he/she is still carrying the gene (Swarts, 2009).

Transfusion is a treatment measure towards sickle cell anemia victims, but the condition is not cured. Breast cancer is another disease which runs through generations. Patients are treated through the removal of the breast but this does not cure the person because she is still carrying the gene responsible for the disease and can as well pass it to her children.

Genetic counseling is important so that individuals and families make wise decisions. Genetic counselors have knowledge of how genetic diseases are passed from parents to the offspring and therefore of great help to couples who would wish to get children. Depending on individual’s genetic composition, the counselor advice them on the probability of passing genetic disease to their offspring’s (Swarts, 2009).

Effects of genetic diseases

Genetic disorders cause anxiety and worry to the victims. Parents are worried that they may pass the disease to their children. People may react angrily to people for not telling their state in advance. This can cause divorce. The victims are always depressed. They do not know whether or not their children will get the disease. Termination off pregnancies due to attacks may also put the victim in a condition of stress.

Parents have a feeling of guilt whenever they see their children suffering because they are the cause of the suffering. Some victims of genetic disorders live in isolation because the diseases are communicable.

They suffer from loneliness. Lack of interaction with other people makes them feel that they are lesser beings. Lastly victims are always uncertain of whether they are at risk of genetic condition or they will test positive to the genetic disorder (Swarts, 2009).

According to me, parents should not hesitate to go for the advice because it is a preventive measure. However, individuals should not go for the test to determine whether or not they have any genetic disorder. This is because they will have nothing to do after knowing their condition. Since it is in their genetic makeup, the condition will remain even after they are aware.

In addition, some people get stressed up after getting to know that they suffer from diseases which cannot be cured. Stress and emotional discomfort may trigger other health related diseases. Some will think that they have limited days of living without knowing that they can live for many years in that condition. Why then should people want to know what will stress them for the rest of their lives?

According to Milunsky & Milunsky (2011) studies have shown that not all people diagnosed with gene carrying disorder contact the diseases. There are many people whose genes carry disorders but neither them nor any of their family members have been found with the disease. Since it’s not a must to get the disease, then why get tested.Many people discriminate against people with genetic disorders.

Some may not want to interact with such people. Failure to undergo the test reduces stigmatization because none is aware of individual’s condition. Many people will never marry from such families once they are aware.

Even if people are no0t diagnosed with the disease, the environment in which they live in may expose them to diseases. Lastly, treatment of genetic disorders is costly and the concerned may not be able to raise enough money if diagnosed with a genetic disorder. People should just wait for the signs of the disease to show.

Parents whose probability of getting children with medical problems is high should not pay more premiums for their health insurance. The fact that they show great chances of having children with disorders is not a guarantee that they will bring up sickly children.

Their children can also be normal. In addition, people suffering from other diseases may spend more in their treatments that those with genetic disorders. Since it’s difficult to predict how much an individual will spent, the insurance premium should be universal for people (Milunsky & Milunsky, 2011).

Moreover, people who refuse to undergo the test should equally pay health insurance premium. Even if they went for the test, they will not change their condition. This is because whether they undergo the test or not, they will pay the premium which will cover their health insurance. Testing should be individual’s choice (Milunsky & Milunsky, 2011).

Conclusion

The paper has outlined some of the diseases which are passed from parents to the parents to the offspring during the process of fertilization as well as other factors which put individual’s risk of contracting such diseases. The paper has also discussed treatment measures of some genetic diseases. Even though genetic diseases cannot be cured, there are solutions to such problems.

The paper has outlined reasons as tp why parents should not go for a DNA test. Finally the paper argues against imposition of higher charges against people at greater risk of getting genetic diseases and those who refuse to undergo the test by health insurance companies.

References

Doak, R. (2011). Genetic disorders. London: Benchmark Education Company.

Lashley, R. (2005). Clinical genetics in nursing practice. New York, NY: Springer Publishing Company.

Milunsky, A. & Milunsky, J. (2011). Genetic disorders and the fetus: Diagnosis, prevention and treatment. New York: Springer Publishing Company.

Swarts, K. (2009). Genetic disorders. New York, NY: Greenhaven Press.

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