Gr722- Genetic Disorders

Running head: GENETIC DISORDER 1

Genetic disorder

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GENETIC DISORDER 2

Genetic disorder

Genetic disorders are conditions which result from abnormal changes in the part or whole of the

DNA (deoxyribonucleic acid) sequence due to mutation (Omoto, & Lurquin, 2014).

Relationship between chromosome and DNA

DNA is a genetic code composed of all information that makes up an organism;

DNA consists of genes, and it forms part of the chromosome which is usually present in the

nucleus of a cell. Genes are located on each pair of chromosomes. In a human body, there are 22

pairs of autosome chromosomes and two sex chromosomes, adding up to forty-six chromosomes

(Omoto, & Lurquin, 2014).

Chromosomal theory of inheritance

This theory is based on the division of chromosomes into daughter cells and states that

the chromosomes are genetic materials since they carry a unit of genes. After close observations,

this theory was supported by many experimental pieces of evidence. Pairs of homologous

chromosomes migrate as a single independent structure of each pair during cell division. Then

follows a random assortment of gametes of these chromosomes to form pre-gametes, synthesis of

parent gametes takes place carrying half of genes from each parent complement, though sperm

and ovum differ in size and morphology, they contain the same number of chromosomes, and

this implies an equal distribution of genetic component. During cell meiosis, both genes and the

chromosomes divide into halves, each resulting into different cells. In case each or both parents

have a faulty gene on their gene sequence; then these alleles are passed on to their offspring

during fertilization of the zygote during meiosis. The offspring contains the same number of

chromosomes as his/her parents. Therefore, these genetic disorders are caused by permanent

alteration of one gene or many genes. In some instances, a combination of gene alteration and

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changes to the chromosomal structure by environmental changes may result in the disorders.

These mutated genes are passed on from the parents to the children during conception (Omoto, &

Lurquin, 2014).

Sickle cell anemia

Sickle cell disease is an abnormality whereby the offspring inherits sickle hemoglobin in

their red blood cells. This is caused by the existence of a faulty gene in either of the parents that

affects the development of red blood cell, giving them a crescent shape appearance. The

abnormal red blood cells have a short lifespan compared to healthy red blood cells (Dyson, &

Atkin, 2012).

Symptoms of sickle cell anemia

i. Episodes of pain referred to as sickle cell crisis that occurs as a result of blockage of

blood vessels by the abnormal red blood cells. It usually lasts up to one week, and it

mostly affects limbs, pelvis, spine and the tummy.

ii. Frequent bacterial infections that are attributed to reduced immunity.

iii. Anemia which occurs due to lack of hemoglobin in the red blood cells responsible for

supplying oxygen to the body tissues

iv. Growth retardation in childhood and delayed puberty majorly due to chronic

infections and reduced cell division

v. Recurrent strokes due decreased blood flow to the brain as a result of sickle cells

blocking blood vessels supplying blood to brain tissue.

Impact on quality of life

The disease tends to shorten one’s life than normal. This varies depending on the type of

sickle disease. Those with milder symptoms and are on long-term treatment tends to live

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long. They are however restricted from performing certain manual duties and exercises that

require the extreme use of effort and high oxygen demand. Therefore, their life if affected

since they are in most cases dependent on others or in case they perform these activities,

there is high risk for death (Jones, 2008).

There is a high prevalence of this disease among people whose ancestors originate from

sub-Saharan Africa, southern Central America, and Mediterranean regions. There is the

possibility of one case in every 500 births among Americans with African ancestry, while it

is one case in every 1400 Hispanic Americans. The disease commonly runs along the distinct

ethnic bloodlines since one only suffers sickle cell disease if one or both parents possess

sickle cell anemia or a trait for sickle cell (Jones, 2008).

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References

Dyson, S., & Atkin, K. (2012). Genetics and global public health: Sickle cell and thalassaemia.

London: Routledge.

Omoto, C. K., & Lurquin, P. F. (2014). Genes and DNA: A beginner's guide to genetics and its

applications. New York: Columbia University Press.

Jones, P. (2008). Sickle cell disease. New York, NY: Chelsea House Publishers.

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Gr722- genetic disorders

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