Genetic Disorders: A Comprehensive Analysis of Hemophilia & Trisomy

This report provides a detailed analysis of genetic disorders, distinguishing between gene mutations and chromosomal mutations, with specific examples of Hemophilia (a gene mutation disorder) and Down Syndrome or Trisomy 21 (a chromosomal disorder). It covers the background, causes, prevalence, signs, symptoms, and available treatments for both conditions, referencing Australian statistics and diagnostic methods. The report further includes a pedigree analysis to illustrate X-linked dominant inheritance patterns. The document concludes by emphasizing the genetic intricacies of these disorders. Desklib is a valuable resource for students seeking solved assignments and comprehensive study tools.

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,

nose bleeds which for longer time period, repeated feeling of vomiting, sleepy, lethargic, sudden
weakness, seizures, it has been observed that single bump in head also can cause bleeding inside the
brain.
5- To provide treatment to hemophilia the required treatment that can be considered are
Desmopressin, mostly induced when an individual is suffering from mild symptoms, physical
therapies, clot preserving drugs it can help in elimination of breakdown of clots (Wang et.al., 2020).

Part B
1-
Chromosomal Mutation:
The chromosomal mutation involves a long segment of DNA. There are kind of mutation
involve deletions or insertion of segment of DNA. It can be influenced through the phenotype of an
organism. The mutation can result of rearranged chromosome parts and alteration changes in
number of chromosome in the genome. It can be detected though gene analysis or microscopic
observation. (Startin and et.al., 2019).
Chromosomal mutation are the results of specific and certain accidents and irregularities in
the chromosomes while cell division process, crossing over or fertilization in an individual. Hence,
these incidents can cause changes in the morphology and also number of chromosomes. It is well
known as Chromosomal Aberration. These effects are genetic effects and can pass generation to
generation. Hence it is totally differing from gene mutation as it is process that takes place by
deletion of one chromosome or error in cell division. (Wang et.al., 2020).
Chromosomal Mutation
2 Background: The trisomy is most common chromosomal disorders in humans. It is also known as
Down Syndrome; it is a genetic complication that are caused by extra chromosome on the 13 pair of
chromosome. It can include certain defects in birth, problems while attaining learning and also
facial features, problems with heart, problems with vision power as well as hearing (Startin and
et.al., 2019).
Nature
It is an autosomal in nature as it is addition of copy of chromosome.

Causes
When a baby conceived inside the womb, it starts with 46 pair of chromosome. The egg and
sperm cell distinguish themselves into half by the process of cell division. Each sperm and egg cell
debits 23 pair of chromosome. When the egg with 23 chromosomes and sperm with 23 chromosome
fertilizes then a baby has 46 chromosomes, but in the case of disorder the error develops in cell
division, the egg and sperm may keep both copies of chromosome number 21 instead of keeping
just 1 copy. If this egg or sperm cells is fertilized, then the expected chromosome will be in 3
duplicates of chromosome number 21. This is referring to as Trisomy 21(Chen, Sawa & Mobley,
2018).
3- Statistics
It is one of the most common disorder birth defects. As per the data exaggerated in Australia
there are 1 in 700 babies. Adults with trisomy 21 expected live cam be 60 years but this can vary
individual to individual. (Wright and et.al., 2018).
4 Vital Signs and symptoms
Patients might have hearing problems, vision problems, thyroid problems, blood conditions
such as leukemia, risk of frequent infection, poor immunity system, problems with learning and
speaking etc. (Cools, et.al., 2018).
Individuals have eyes that are slanted upward, small and inverted ears, small nose with flat
bridge, short neck, small hands with small fingers, one palm crease, loose joints, short heights and
so on. (Cools, et.al., 2018).
5- Types of Treatment
It is diagnosed after the girth. This is performing by observing cells in the amniotic fluid or
with placenta. This can also be done through observing the DNA content of babies in the mother's
blood (Monfrini 2019). This is termed as non-invasive prenatal screening. Studies included that
there has no cure of this disorder, hence it can be managed by therapies such as speech therapies,
the heart defects can be treated through surgeries and so on.

Part C
 Orange denotes- one pair of twins
 Blue- Affected
 Green- Carrier
Pedigree
The disorder is X-linked and it is dominant in nature. Also, X-connected formative problems and
recognize 23 huge qualities, most of the X-connected weight of chromosomal disorder.
Significantly, it has been gauge that, in male which is XY probed, just 13% of acquired uncommon
missense variations in known formative issue related qualities are probably going to be pathogenic
or the chromosome it becomes dominant in nature. In a X-Linked prevailing problem, if the father
is influenced everything little girls will be influenced and no children will be influenced. It doesn't
avoid an age and if the mother is influenced she has a half shot at passing it onto her offspring.
(Cools, et.al., 2018). In a X-connected latent issue, males are bound to be influenced than females.
Influenced children ordinarily have unaffected mother. The father likewise should be influenced for
little girl to be influenced and the mother should be influenced or a transporter for the little girl to
be influenced. The issue is likewise never passed from father to child. No one but females can be
transporters for the issues. X-connected passive issues likewise ordinarily avoid an age (Ahmad,.
et.al., 2017). Connections in a family are displayed as a progression of lines. Guardians are
associated by an even line and an upward line prompts their posterity.
The posterity is associated by an even sib ship line and recorded in birth request from left to
right. On the off chance that the posterity are twins, they will be associated by a triangle. In the
Jack
Leo
TheoEzro
Luca
AriAli
Arlo
LeviMax
Mil
a
Luc
y
May
a
Zo
e
Lol
a
Ayl
a
Lun
a
ZaraEva
Mi
a

event that a posterity bites the dust, its image will be crossed by a line. On the off chance that the
posterity is as yet conceived or cut short, it is addressed by a little triangle. Every age is recognized
by a Roman numeral I, II, III and every person inside a similar age is distinguished by an Arabic
numeral 1, 2, 3, etc. (Wang et.al., 2020). Investigation of the family utilizing the standards of
Mendelian legacy can decide if an attribute has a prevailing or passive example of legacy.
Families are regularly developed get-together relative beset with a hereditary problem has
been recognized. This individual, known as the probed, is shown on the family by an arrow. These
progressions might happen yearly or month to month. The down syndrome is due to extra copy of
chromosome that can result serious health problem. As per the vend diagram it has the X
chromosome from the egg and the Y chromosome from the sperm. In Down disorder, there is an
extra duplicate of chromosome 21, bringing about three duplicates rather than the ordinary two
duplicates. (Cools, et.al., 2018).

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