Genetic Disorders: Chromosomal Mutation vs Gene Mutation and Case Studies

Genetic Disorders

Part A
1- Gene mutation is defined as permanent change in the DNA sequence that have ability to develop
a gene. This genetic alteration known as gene mutation, due to alteration in DNA, is doesn't always
reflect disease but it has been observed that gene variant is more specific term. Chromosomal
mutation refers to a process which provides a result in abnormal number of chromosome part,
abnormal number of individual chromosomes, rearranged chromosome parts. It is different from
chromosomal mutation because chromosomal mutation usually occurs due to alteration of structure
if chromosome or number of chromosomes whereas gene mutation occurs due to alteration of
nucleotide sequence of a gene. Example: gene mutation can cause hemophillia, sickle cell anaemia,
Tay-sachs disease etc. and in contrast the chromosomal mutation can cause Klinefelter syndrome,
Turner Syndrome and Down Syndrome. (Cools, et.al., 2018).
Chromosomal Mutation vs Gene Mutation
Gene mutation also can have caused by errors in DNA replications and also mutagens
examples UV and chemicals whereas the chromosomal mutations happen due to error in cell
division at the time meiosis process. Alteration usually occurs in the nucleotide sequence of gene in
gene mutation but in the case of chromosomal mutation the alteration sally occu8r in chromosome
segment. Gene mutation can affect a single gene, but mutation in chromosome can take several
genes along with it. (Weissbach, et.al., 2020)
2- BACKGROUND: The considered disorder which occur through gene mutations can cause
Hemophilia, it is usually an inherited bleeding disorder in which blood could not clot properly.
Blood consist several of proteins termed as clotting factors that can promote clotting of skin. People

who are suffering from hemophilia mostly have low level of with 8 or 9 factor. Hence, the lower
amount are more likely to deal with serious health factor. Changes or transformations that happen in
the DNA arrangement of a solitary quality reason this kind of legacy. There are a huge number of
realized single-quality problems. These issues are known as mono-genetic messes (problems of a
solitary quality). Single-quality issues have various examples of hereditary legacy, including
autosomal predominant legacy, in which just one duplicate of a flawed quality (from one or the
other parent) is important to cause the condition; autosomal latent legacy, in which two duplicates
of an imperfect quality (one from each parent) are important to cause the condition and X-
connected legacy, in which the blemished quality is available on the female, or X-chromosome. X-
connected legacy might be prevailing or latent. (Startin and et.al., 2019).
Haemophilia
Protein production: The gene mutation can disturb the protein production by making and alternating
gene instruction, a variant can cause protein to malfunction and sometimes protein synthesis gets
stopped.
3- As per the report estimated, Hemophilia occurs in 1 out of 8000-10,000 boys worldwide. At
present, in Australia there are about 2,960 individuals with complexities Hemophilia A and B in the
ABDR (Australian Bleeding Disorders Registry). (Cools, et.al., 2018).
4- The vital signs of Haemophilia that are categorized as unexplained and excessive bleeding from
usual cuts or any injury, after surgery and dental work. Many and large bruises on body on frequent
basis, usual bleeding after vaccinations, pain, swelling or joint becomes tight, blood components
while urination or stool can be found while urinating. Whereas, the symptoms that can considered
as painful and prolonged headache, bleeding gums, bleeding from wounds which lasts for longer,