Gr722- genetic disorders

Running head: GENETIC DISORDER 1
Genetic disorder
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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
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
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).
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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