ayes ha syed 10c - tsfx...7 source: (2017). help4cure.com.retrieved 2 november 2017, from ...
TRANSCRIPT
Thalassaemia Ayesha Syed 10C
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Source: (2017).
Specialrisksbureau.co.uk. Retrieved 31 October 2017, from http://www.specialrisksbureau.co.uk/img/health/thalassaemia.png
Syed Genetic Clinic Dr Ayesha Syed 123 DNA Avenue, Chromosome Nucleus, Animal Cell 3458
(123) 456 - 7890
Thalassaemia 25 October, 2017.
Dear Mr and Mrs Mitochondria,
Here at the Syed Genetic Clinic, we understand that genetic testing is a scary process. That’s why we pride ourselves in ensuring that this process goes as smoothly as possible for you and your family. Below is a detailed explanation of Thalassaemia and it’s implications on one’s family life. Please understand that this is the opinion and experience of many other people who have been through a similar phase to you, however your experience and it’s implication on you can only be truly experienced and understood through you.
Kind Regards,
Dr. Ayesha Syed 30/11/2017
Syed Genetic Clinic
Biological Concepts. Facts, Symptoms, Prognosis, Mode of inheritance, Treatment, Current
Research
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Source: (2017). Medical-labs.net. Retrieved 31
October 2017, from http://www.medical-labs.net/wp-content/uploads/2015/03/Hemoglobin-Molecule.gif
Thalassaemia is an inherited blood disorder where the
body is producing a defective form of hemoglobin.
Haemoglobin is a protein used to transport oxygen from
the lungs to the rest of the body, when the production of
haemoglobin becomes defective the most common
“chain” in the haemoglobin molecule ( as seen at right )
affected is the alpha globin chain and in some
circumstances the beta globin chain. The chains
themselves are normal but the issue is with the amount
produced, as it can usually mean that some genes are
missing. In a alpha globin chain there are 4 genes
needed, when two of these genes are missing it
usually results in moderate to severe anaemia. In the
beta globin chain there are only 2 genes required, the
most severe form of thalassaemia occurs when both of
these genes are affected. However, an equal amount of functioning genes are required from both chains to
ensure that the haemoglobin is completely functional. A deficiency in either chain will lead to an imbalance
and therefore have dire effects on the red blood cell and cause anaemia.
In the case of thalassaemia, the beta globin chains begin to produce abnormals beta tetramers due to the
impact on its two genes. These abnormal beta tetramers cannot carry oxygen. This causes the slightly
more “mild version” of thalassaemia. In beta thalassaemia the is no such abnormal beta tetramers due to
the complete absence or ruin of the beta globin chain. Therefore the alpha globin chain slowly begins to
deteriorate in the absence of the beta globin chain.
Symptoms of Thalassaemia:
Due to the lack of oxygen in the blood stream thalassaemia come with many side effects and symptoms.
The lack of oxygen occurs because the body is unable to produce a healthy amount of red blood cells and
therefore haemoglobin. The severity of the symptoms often indicate the severity of the disorder.
Alpha Thalassaemia Silent carriers tend to have no signs or symptoms, the impact on the alpha globin
chain is so minor that the haemoglobin functions as normal.
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Source:(2017).
I0.wp.com. Retrieved 2 November 2017, from https://i0.wp.com/nursingexercise.com/wp-content/uploads/2015/07/Jaundice-disease1.jpg?fit=600%2C480
Source: (2017).
Usercontent1.hubstatic.com. Retrieved 1 November 2017, from http://usercontent1.hubstatic.com/8485156_f520.jpg
Those who have alpha or beta thalassaemia can often find themselves with mild anemia, this produces
symptoms of exhaustion and drowsiness. Mild anemia is often mistaken for iron-deficiency anemia.
Some other symptoms of Beta Thalassemia include:
- Slowed Growth and Delayed Puberty
Anemia often can slow down a child’s growth and development.
- Poor Appetite
Due to the constant state of drowsiness the individual may
not feel the urge to eat a lot, it is still encouraged to urge the
child to eat as they need a source of energy.
- Jaundice
Thalassemia Beta patients may contract hemolytic jaundice
as a side effect from an increased red cell lysis. Pale skin
and yellow undertones ( pallor) are symptoms of jaundice
and therefore may occur in Thalassemia patients.
- Facial Structure+ Bone Marrow Expansion
Thalassemia causes bone marrow to expand, which
causes the bones themselves to expand to abnormal
sizes. This causes abnormalities in the facial
structure (as seen in diagram at right ) as well
as making the patient prone to breaking their bones
easily.
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Source: (2017).
Nethealthbook.com. Retrieved 1 November 2017, from http://nethealthbook.com/wp-content/uploads/2014/09/shutterstock_207413482.jpg
Source:(2017). Ufhealth.org.
Retrieved 2 November 2017, from https://ufhealth.org/sites/default/files/graphics/images/en/18141.jpg
- An enlarged spleen
The spleen is an organ that assists the body in fighting
infection and removing waste. Thalassemia causes the
spleen to work extremely hard, this leads to the spleen
becoming larger that its normal size. Anemia because life
threatening when this occurs because the size of the
spleen then begins to take a toll on its functionality.
Ultimately, in most cases of anemia and/or thalassaemia the
spleen is removed.
- Tiredness and Fatigue
In Thalassemia Major extreme fatigue and drowsiness occurs due to an additional iron overload and ROS
(Reactive oxygen Species) production.
- Dark Urine
A darkened almost brown urine indicates that the red blood cells are breaking down.
- Heart Disease
The monthly transfusions can cause iron to build up in the
blood therefore causing an iron overload. This causes extreme
damage to organs and tissues, the heart and liver in particular.
Heart disease due to iron overload is the main cause of death
in thalassemia patients. The cause of death could include:
heart failure, arrhythmias (irregular heartbeats) and a heart
attack.
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A punnett square showing the genotypes of the parents and their offspring
( Thalassaemia )
Source: (2017).
2011gtms8f.wikispaces.com. Retrieved 2 November 2017, from https://2011gtms8f.wikispaces.com/file/view/josh_s_punnett_square.PNG/230299570/400x299/josh_s_punnett_square.PNG
A pedigree chart showing the inheritance of Thalassemia. Source: (2017).
Sickle.bwh.harvard.edu. Retrieved 2 November 2017, from http://sickle.bwh.harvard.edu/beta_thal.gif
Who is more likely to contract the disease? and Mode of Inheritance.
The chance of having the thalassemia gene initially depends on the origins of your family. History has
shown that individuals whose families are from the Mediterranean, Asia or Africa tend to be more prone to
the disease.
(e.g) 1 in 7 Greeks have or carry the gene, as well as 1 in 12 turks, 1 in 20 Asians , 1 in 25 Africans and 1
in 1,000 English of North Europe.
Both Thalassemia major and alpha are inherited through
a autosomal recessive pattern, the means that the
genotype is homozygous. The parents of the affected
individual must each carry one copy of the affected
gene, however both parents do not show any symptoms
of thalassemia ( they are carriers) . In rare cases,
carriers of the thalassemia gene have been found to
have mild anemia and are often referred to as having
thalassemia minor.
A very small amount of families, have thalassemia as an autosomal
dominant trait. This means that one copy of the affected gene is
enough to show the signs and symptoms of beta thalassemia.
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Source:(2017).
Help4cure.com. Retrieved 2 November 2017, from http://www.help4cure.com/wp-content/uploads/2016/04/Bone-marrow-donor.jpg
Cures / Treatment
The standard treatments for patients with thalassemia major are blood transfusions, iron chelation, removal
of the spleen and bone marrow transplant.
Blood Transfusion:
Involves an injection of red blood cells through a vein in order to reinstate normal levels of red blood cells
and haemoglobin. The transfusion is repeated every 4 months for patients with moderate thalassemia. Beta
Thalassemia patients may require transfusions every 2 to 4 weeks.
Iron Chelation:
The removal of excess iron from the body. A side effect from the blood transfusions is that they can cause
an iron overload which can lead to heart disease. Due to this danger, all patients who receive transfusions
also require iron chelation therapy. Two medications are used for this: deferoxamine which is given via
injection and deferasirox which is an oral pill. Folic acid tablets are
also taken when transfusions and iron chelation are being done to
assist in restoring healthy red blood cells.
Splenectomy:
The removal of the spleen,
this is due to the
enlargement of the spleen.
CURE Bone Marrow
Transplant:
A bone marrow and stem cell transplant from a compatible done is
the only known treatment that has the ability to cure thalassemia. In
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most cases, the best ones have been found to be brothers or sisters, within a month of the transplant
the patient begins to produce healthy new blood cells.
Prognosis ( Long term, Life Expectancy )
The outcome of thalassemia depends on the severity of the disease and the extent of which the individual
follows the prescribed treatment. Individuals with beta-thalassemia major are able to live well into their
fifties alongside blood transfusions, iron chelation therapy and splenectomy. However, without the iron
chelation, the life expectancy is decreased ( 20 - 30 years old ) due to the iron overload within the heart.
Genetic Testing
Impact on the individual , family
Individual:
- Apart from the above-mentioned symptoms thalassemia impacts the individual socially and
mentally.
- Due to the treatment plan for a patient with thalassemia, it is very hard for the affected person to
make plans and therefore maintain friendships and other relationships.
- If the individual is a child then they may feel extremely left out as they would be unable to join in
with other children and go to school on a regular basis.
- They may also feel different to their class peers as they will be a lot smaller due to the fact that a
symptom included is hindering the rate of growth.
- The individual will look different, abnormal facial feature may lead to bullying
- Sports classes and playground fun will be comprised as the child will find it hard to be able to
participate in too much physical education.
Family:
Positive Impacts:
- Increase awareness of inner strength and enhance the way the family functions
- Connections with community groups and religious institutions
Negative Factors:
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Source: (2017).
Autismspeaks.org. Retrieved 2 November 2017, from https://www.autismspeaks.org/images/inthenews/d_200909_family_stress_3_figure_three.jpg
- Time
- Finance
- Physical and Emotional Demands
- Logical difficulties that come with raising
a special child
- Stress, impact on the carer’s mental and
physical health
- Having a child with thalassemia will
impact future decision such as having
more children, work and whether or not to
rely on public support.
- Out of pocket costs
- Impact on the parent's relationship
- Living arrangements
- Family structure
- Impact on parenting practices
- If there are other children in the family they may feel
neglected and they may receive less attention from the
parents.
- Studies indicate that an infant with a serious health
condition increases the likelihood that the parent's
divorce.
Genetic Testing for Thalassaemia + Accuracy
- Testing in the fetus
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Source for two above images: Thalassaemia testing CBC: cbc testing thalassaemia - Google
Search. (2017). Google.com.au.
Retrieved 3 November 2017, from
https://www.google.com.au/search?
biw=1277&bih=626&tbm=isch&sa=1
&ei=Ien7WfPeFMax8QXFj77YBA&q=
cbc+testing+thalassaemia&oq=cbc+
testing+thalassaemia&gs_l=psy-
ab.3...5290.9728.0.9936.13.12.0.0.0.0.
412.1687.2-1j3j1.5.0....0...1.1.64.psy-
ab..8.0.0....0.miRmyEGDbS8#imgrc=
6ZrXImgNxraRAM:
Ultrasound Probe Testing: ultrasound probe thalassaemia -
Google Search. (2017).
Google.com.au. Retrieved 3
November 2017, from
https://www.google.com.au/search?
biw=1277&bih=626&tbm=isch&sa=1
&ei=XOn7WfqAJIO40gSDzanYAQ&q
=ultrasound+probe+thalassaemia&o
q=ultrasound+probe+thalassaemia&
gs_l=psy-
ab.3...4103.6347.0.6523.13.9.0.0.0.0.3
89.1066.3-3.3.0....0...1.1.64.psy-
ab..10.0.0....0.MHCJ7EkfsA0#imgrc=
This test is extremely sensitive and has a 97.34% accuracy rate. It is done by analysing fetal DNA
through chorionic villus sampling 11 weeks. This also involves
removing a small piece of the placenta.
- Blood Test ( CBC - complete blood count)
A CBC calculates the amount of hemoglobin in a sample of blood. As
well as other kinds of blood cells (red and white blood cells).
Thalassemia patients have fewer healthy red blood cells and
therefore less hemoglobin
- Iron Test
Doctors may also test for the amount of iron in the blood to find out if
the lack of iron is due to anemia or thalassaemia.
Genetic Counselling
Support Networks
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Decision Making
Stakeholders in the process and their values + priorities
Ethical + Social Implications in the following situations:
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1. If the unborn child has this condition
Stakeholders: Mother, Father + Relative of both parents
Values and Priorities:
Mother: The baby’s health, her own health, the quality of her child’s life, Her partner's health and opinion
Father: His child’s health, His partner’s health, quality of his child’s life
Relatives from the parents: These relatives only value the health of the unborn child and the happiness and
health of the parents.
Decisions that could be made:
Abortion.
This heavily impacts all the stakeholders in this situation as the child is no more in the situation. This is
emotionally a very hard situation that requires a lot of planning and thinking about. This decision mainly
impact the mother as she will have to undergo a procedure that eliminates the child, she and her partner
will feel an extreme loss. There is no easy way of deciding how this decision is to be made.
Have the child and care for it
This decision is risky as most of the side effects are immediate. The couple must be willing to provide all
financial means as well as time. At least one partner would need to be a full-time carer of the child while the
family still has the money to pay treatments. The emotional impacts of no longer working as well as being a
full-time carer. * Refer to impact on the family.
2. An adult becomes aware that there is a family history of having this specific trait. Decisions?
Stakeholders: The adult, family + possible future partner
Values and Priorities:
The Adults: One's health, respect towards other family members who may not want to know their genetic
information which will most likely be revealed if testing is done,
3. A positive result showing that one or both of the parents is a carrier.
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Should extended family undergo testing?
Only if they want to, they should not undergo testing under the command of another family member. It
is understood that one person who undergoes genetic testing may uncover extended family's genetic
history. Some may not be comfortable with this decision as they would like to live their life without knowing.
4. Should you disclose that your family has this genetic disorder when forming relationships with a
partner?
Although the decision is entirely up to the individual some pointers are to be noted in regards to telling
potential partners about familial disorders:
- If the partner comes to know later in the relationship then they may cite trust issues
- Important to explain the genetic and basic biological concepts about the disease to them so that
they understand what their future offspring may contract.
Stakeholders + Priorities: Prospective Parents: they value the future of their lives and their child's life.
They also value their health and their child health.
5. Does the mother of the child have the right to know the results of a genetic screen of the father?
Stakeholders: Mother, Father
Values:-
Mother: She values her child’s health and future alongside her own future and health. She also values the
trust in her relationship with the father of the baby.
Father: Values his privacy and the health of his partner and child.
The Father must provide his known and tested genetic information based on the fact that the child must
undergo genetic testing.The mother of the child, legally does not need to know the outcome of her partners
genetic testing but he is allowed to tell her.
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Source: stigma+thalassemia -
Google Search. (2017). Google.com.au. Retrieved 3 November 2017, from https://www.google.com.au/search?q=stigma%2Bthalassemia&source=lnms&tbm=isch&sa=X&ved=0ahUKEwi99MHPn6HXAhXFkJQKHR__DVEQ_AUICigB&biw=1277&bih=626#imgrc=Tj_7Lu04bkQ3bM:
Stigma surrounding Thalassaemia
In India, a place where Thalassaemia is commonly found, family
secrets are not very well hidden. Once it is found out that someone
may be a carrier for Thalassemia, people begin to stay away from
the individual. Due to the lack of knowledge about the disease many
assume that it is contagious, dangerous, life threatening and will
most likely impact the offspring of the individual even if the partner
does not carry the gene. Many people also assume that a
thalassemia is a heavy burden for the affected individuals and those
around them. In extreme cases people tend to resist Thalassaemia
patients due to the fact that they assume that they are a burden on
the health care system. Marital Tensions may also arise as India,
Pakistan as well as other parts of Asia tend to marry through
Arranged Marriage situations. An individual may not receive many
suitors based on the fact that they have a “disease”. It can be said
that the main source of these stigmas and preconceived notions
would be a lack of knowledge surrounding the disease. The only way
to address this issue would to conduct seminars, conferences and
open up the community to being able to speak about the issue
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CASE STUDY: An Indian Student
struggles to get admission into
Medicine due to the fact that they
have Thalassaemia
A young Indian student filed a motion
with the Delhi High Court after being
refused entry into medical on the basis of having thalassemia.
The court has granted Thalassemia a place under the MBBS Disability Category. This is a sign of change
in India as now individuals with Thalassemia can find themselves to be presented with more
opportunities.This further contributed to the idea that having thalassaemia cannot rule your life more than it
already does.
Legal Issues around genetic testing?
Some people may not want to get tested for thalassaemia and other disorder because they would be
scared about their insurance policy.
The Australian Law Reform Commission states:
“The industry views the use of genetic test results in underwriting as an integral part of the medical
information currently used, with the important exception that an insurer will not ask an applicant to undergo
a genetic test.
Medical information, including results of medical tests, individual and family medical history, and medical
examinations, is used by underwriters to understand an individual’s current and likely future health, and
thereby to assess their risk of claiming.”
- The use of genetic information in employment:
It is currently heavily discouraged to ask for unnecessary genetic testing prior to hiring a prospective
employee. It is not illegal as it is still used in departments such as boxing and the police department may
ask for genetic testing to eliminate the officer’s DNA at the scene of the crime.
- Discrimination:
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On the 11 November 1997, the UNESCO General Conference unanimously presented the Universal
Declaration on the Human Genome and Human Rights.
“ "No one shall be subjected to discrimination based on genetic characteristics that is intended to infringe or
has the effect of infringing human rights, fundamental freedoms and human dignity". - UNESCO
- Family Members who have not been tested may have their genetic history uncovered when an
individual gets tested.
“The overriding responsibility of the clinical geneticist remains with the patient and not to any other family
members and certainly not to society because of the public health effects of the mutant gene. Nevertheless,
the question of whether a mutant gene present in one member of a family constitutes clear-cut danger to
others in the family, thereby justifying warning family members regardless of a patient’s preference, has not
yet been answered satisfactorily.” Source: Australian Law Reform Commision