Thalassaemia. Ayes ha Syed 10C
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1 Thalassaemia Ayes ha Syed 10C
2 2 Syed Genetic Clinic Dr Ayesha Syed 123 DNA Avenue, Chromosome Nucleus, Animal Cell 3458 (123) Thalassaemia 25 October, 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 Source: (2017). Specialrisksbureau.co.uk. Retrieved 31 October 2017, from Biological Concepts. Facts, Symptoms, Prognosis, Mode of inheritance, Treatment, Current Research
3 3 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 needed, when two of these chain there are 4 genes 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 Source: (2017). Medical-labs.net. Retrieved 31 October 2017, from Molecule.gif 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.
4 4 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 Source:(2017). I0.wp.com. Retrieved 2 November 2017, from 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. Source: (2017). Usercontent1.hubstatic.com. Retrieved 1 November 2017, from 156_f520.jpg
5 5 - 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. Source: (2017). Nethealthbook.com. Retrieved 1 November 2017, from - 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. Source:(2017). Ufhealth.org. Retrieved 2 November 2017, from es/graphics/images/en/18141.jpg
6 6 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. A punnett square showing the genotypes of the parents and their offspring ( Thalassaemia ) Source: A pedigree chart showing the inheritance of Thalassemia. Source: (2017). Sickle.bwh.harvard.edu. Retrieved 2
7 7 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: Source:(2017). Help4cure.com. Retrieved 2 November 2017, from p- A bone marrow and stem cell transplant from a compatible done is the only known treatment that has the ability to cure thalassemia. In
8 8 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 ( 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:
9 9 - 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 parents. - Studies indicate that an infant with a serious health condition increases the likelihood that the parent's divorce. Source: (2017). Autismspeaks.org. Retrieved 2 November 2017, from org/images/inthenews/d_20 the Genetic Testing for Thalassaemia + Accuracy - Testing in the fetus
10 10 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 Source for two above images: Thalassaemia testing CBC: cbc testing thalassaemia - Google Search. (2017). Google.com.au. Retrieved 3 November 2017, from biw=1277&bih=626&tbm=isch&sa=1 &ei=ien7wfpefmax8qxfj77yba&q= cbc+testing+thalassaemia&oq=cbc+ testing+thalassaemia&gs_l=psy- Support Networks
11 11 Decision Making Stakeholders in the process and their values + priorities Ethical + Social Implications in the following situations:
12 12 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.
13 13 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.
14 14 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 Source: stigma+thalassemia - Google Search. (2017). Google.com.au. Retrieved 3 November 2017, from ch?q=stigma%2bthalassemia&s ource=lnms&tbm=isch&sa=x&v ed=0ahukewi99mhpn6hxahxf
15 15 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:
16 16 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
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