Treatments And Possible Solutions To Thalassaemia Biology Essay


Thalassaemia is one of the most inherited single gene disorders in the world, mostly in parts of Africa, Asia and South America. Around 100, 000 babies worldwide are diagnosed with thalassaemia each year. Two types of the disease include - alpha thalassaemia and beta thalassaemia; depending on the type, thalassaemia prevents the formation of either alpha or beta chains inside the haemoglobin molecule. This affects the function of the haemoglobin which prevents it from transporting the oxygen molecules around the blood, and therefore means sufferers are unable to carry sufficient oxygen around the body. As a result, people with thalassaemia suffer from a variety of symptoms (similar to the ones of anaemia) due to lack of oxygen around the body cells - fatigue and lack of energy. Different types of treatments are available at the moment as well as a potential cure, however scientist are now developing a new cure to end thalassaemia before the birth of the child. (See Appendix for how Thalassaemia is caused)

Treatments and Possible solutions to Thalassaemia

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Today there are different types of treatments which improves the life of a sufferer, although this would merely depend on the type of the disease they may have.

Blood transfusions are vital to have when anaemia becomes severe. These procedures are scheduled every 2-4 weeks to maintain the number of red blood cells and the level of haemoglobin at a normal rate. However some risks may be involved, i.e. having an excess of iron in the blood which could potentially damage the liver, heart and other body organs. As a result the process of Iron Chelation Therapy is needed to reduce the excess of iron in the blood from regular blood transfusions. People with thalassaemia may also be recommended to take folic acid supplements, as folic acid is a B vitamin which helps to build healthy red blood cells. (The Internet Encyclopedia of Science)

At the moment, bone marrow transplantation seems to be a possible 'cure' for individuals who suffer from thalassaemia and other sickle cell disorders. The stem cells inside a bone marrow are where red blood cells are produced. The stem cells given by a donor is used to replace the faulty stem cells of a thalassaemia patient, with healthy new ones. However this risky procedure can only be done when a suitable donor is available.

The process of bone marrow transplantation:

Stem cells are extracted from bone marrow from donor.

Stem cells are analysed and multiply in cell culture.

Stem cells are then inserted to patient, which will enable them to produce healthy red blood cells.

The process of bone marrow transplant (diagram) - (Source 1)

Bone marrow transplantation is a complex procedure which is why it is only carried out on patients who suffer more extreme forms of the disorder, e.g. strokes, serious chest infections. On the other hand, it seems that the procedure in many patients is over 80% successful, suggesting a normal life can be possible for them. Even though a small percentage does show that the procedure does carry a small risk of death, the bone marrow transplantation still remains the best hope of a cure for thalassaemia as further research will gain a better understanding of the difficulties of the disorder. (Bupa, 2009)

Gene Therapy is the next possible solution to thalassaemia. In the near future, a normal haemoglobin molecule could perhaps be inserted in the cells of people with the disorder. A scientist, Philippe Lelouch successfully transferred human genes which produced sickle cell haemoglobin into mice, in which they were able to target the bone marrow. From this, Michael Sadelain used gene therapy to cure thalassaemia in mice. As a result the mice were able to produce normal haemoglobin and remained well. (Gillie, 2004)

On the other hand however, the use of animals for medical research can be a major ethical issue. Rats are easy and relatively cheaper to obtain, and have been used to identify many types of drugs used today, though many argue that some experiments carried out on them such as inserting chemicals in rats, "causes pain and suffering" to the animals. Not many experiments are carried out on humans as this may cause psychological and physical harm, but why is it any more acceptable on wild animals then? Furthermore many people argue that rats are not generalisable to humans, and so drugs which seem to be a success in rats (or other animals) may not be 100% effective in humans. Although, it is thanks to rats' research that many scientists have developed new treatments as well as cures to a variety of illnesses, so should generally be seen as an acceptable in terms of the aspect of medical research. (The Humane Society)

Social, Economic and Ethical Issues

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In terms of social and economic implications, thalassaemia limits the individual's need of a 'normal' life. The management of pain is one of the key issues as sufferers have to endure the pain they experience during a crisis (an attack of sickle cell disorder), which requires a lot of medical attention if the crisis is too severe. Treatments for thalassaemia become too expensive, i.e. having a blood transfusion every 2-4 weeks, as well as having iron chelation therapy, and folic acid supplements. Due to this, many parents demand free prescriptions due to high payments for treatments and therefore leading to major economic difficulties.

In addition, sufferers are socially affected tremendously by not being able to attend school or workplace. This is mainly common in developing countries of Africa, South and Southeast of Asia where there is a low level of education and a limited understanding of the disorder. Source 16 is a study to investigate whether thalassaemia sufferers actually had knowledge about their own disorder. 20 thalassaemia patients between the ages of 5-30 years were assessed in individual interviews via questionnaires. Examples of questions patients were asked: 'When was the disease diagnosed (at what age)?', 'What type of a disease is it? (contagious/infectious/genetic/cancer/blood disorder/others)', 'What is the haemoglobin level when they are getting transfusion?' etc. The data was collected was tabulated and analysed. The following diagrams are some of the results obtained from the experiment.

In these pie charts, we can clearly see that only 80% (16) of those patients analysed, had knowledge about the different types of thalassaemia, whilst only 20% (4) had lack of knowledge of this. On the other hand, it seems that only 40% (8) of those patients actually knowledge about the severity of thalassaemia, whilst the other 60% (12) had no knowledge of the disease. This clearly states that even though some patients may have some understanding of thalassaemia, they may not be sure how severe their disorder could actually be, and also suggests the lack of knowledge of possible treatments available to them. Furthermore due to the lack of knowledge, patients in the study were not receiving the ideal treatment for their disorder, therefore suggesting that the knowledge of the disorder needs to be improved in patients, in terms of their condition and their management.

In terms of evaluating this piece of research, the study was only experimented on only 20 patients which is a small sample. This is not reliable enough as a different sample may give different results, suggesting that the results cannot be generalised to other patients with different types of disorders. Confidentiality is another important factor in this study as it is an ethical issue. The researchers publish 'confidential' findings, even though no names are present we clearly know the results are based on thalassaemia patients. The study was carried out in as a laboratory experiment, in a controlled environment, and can easily be replicated to check for consistency of results. On the other hand however, it is in an artificial environment and therefore lacks ecological validity. Participants in this study may not normally be asked confidential questions about their illness, so this also lacks mundane realism (real-life) as a result. Lastly the use of questionnaires may not always be ideal as the answers provided may not be truthful. Although questionnaires are relatively cheap and quicker to collect data, and participants are more willing to reveal personal information than in an interview.

Marriages may become a problem for thalassaemia sufferers as one partner could blame the other for their affected 'unborn' child. Therefore they may accept and come to terms with the child they will actually have, to prepare themselves for treatments the child will endure for the rest of their lives. Or, they may terminate the pregnancy (depending on the cultural and religious objections) which may lead to raised ethical issues, such as arguing that the foetus has the right to live, or that religious do not accept abortions.

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As a result, 'The NHS Sickle Cell & Thalassaemia Screening Programme' is a programme aiming to raise public awareness of the disorders, and designed to provide care and assistance for those who are affected by thalassaemia (and other sickle cell disorders) to achieve their full social and economic potential. The programme offers a welfare fund which provides household goods (e.g. washing machines, cookers, etc) to help those suffering from the disorder to live a better quality of life.

The programme also offers an education fund which provides extra tuition for children who missed out on school due to their illness. Furthermore, the programme may also provide some money towards school books, school equipment, computers, etc, so that children are able to gain an education whilst being at hospital. In terms of dealing with ethical issues, couples may find genetic counselling helpful in making their decision whether or not to have a child. They will be able to discuss the statistical risks of having more children and help the couple recognise the options they have. (NHS Sickle Cell and Thalassaemia Screening Programme).

Thalassaemia affects mainly developing countries, so level of understanding of the disorder is limited. Furthermore the level of education is low so many children affected are more likely not to get a good education.The world distribution of the Thalassaemias

The World Distributions of Thalassaemias (Diagram) - (Source 10)

Advantages and Disadvantages

Bone marrow transplants are known to be a possible cure for thalassaemia, however this treatment is too risky to carry out and as a result become the last option of a patient if the illness was to become too severe. The bone marrow transplantation is discussed in terms of economic aspects by Angelucci and Lucarelli (2001), assume that the cost of the transplantation in 1991 was $73,250. This amount is cost-saving compared with having lifelong blood transfusion and chelation therapy, and also more cost-effective. Therefore this suggests that bone marrow transplantation may be the best treatment, as well as being the possible cure to thalassaemia despite the risk it holds. (Disease Control Priority Project).

Thalassaemia is most common in most parts of Africa, where malaria is the main killer people who are carriers of thalassaemia have a greater resistance against malaria than 'normal' people; Karen Day et al. (Source 17) made this discovery.

"We made the surprising finding that packaging your haemoglobin in smaller amounts in more cells is an advantage against malaria" - Source 17

The research was based on approximately 800 children living in Papua, New Guinea, where malaria is common. The study reveals that children who possess mild forms of thalassaemia have adjusted the "loss of red blood cells associated with malarial disease" by producing more red blood with less haemoglobin. This is a great advantage against malaria, although other scientists are not fully unsure how the milder thalassaemia protects the risk of having malaria; therefore it is still an active area of research.

Source 18 supports Source 17, as it presents the global distribution of both thalassaemia and malaria, and how they both seem to show a link of thalassaemia individuals having immunity against malaria. As shown in the diagrams thalassaemia mainly occurs in people living in Mediterranean countries, the Middle East, India, and Central Asia, North and West of Africa (where malaria is most common).

Global Distribution of Malaria and Sickle Cell (Thalassaemia) - Source 18

Blood transfusions hold many possible risks causing 'transfusion reactions', a few examples are:

Allergic reactions are most common which mostly occurs during transfusion due to the body's reactions of the plasma membrane from the donated blood; common symptoms of this are hives and itching, which can be treated with antihistamines.

Acute immune haemolytic reactions are the most life-threatening reactions, as antibodies of the patients attack the donated red blood cells, cause them to haemolyse (break open) and release harmful chemicals into the bloodstream. Patients may experience symptoms of chills, fever, nausea and pain from the chest and lower back. Haemolytic reactions can lead to death if the blood transfusion is not stopped immediately.

Graft verses host disease (GVHD) may also occur where white blood cells of the donor attack the body tissues of the patient. The patient may experience the symptoms of fever, liver problems, rash, and diarrhoea.

The risk of having an infection may also be possible. The condition being placed on before the transplant weakens the immune system. Infections have to be prevented as the condition can worsen to a more serious condition, such as a lung infection (pneumonia). Infections can be caused by certain bacteria, viruses, and parasites (such as Chagas disease), which can spread by blood transfusions. (CKS)

Alternatives - The next step to stem cell treatment

Source 9 is an article from the BBC, who signifies that the University of Minnesota team have found possible that they may one day produce a supply of human stem cells, to end the need of blood donations. Stem cells are known to be the creators of other types of cells - e.g. erythrocytes (red blood cells), lymphocytes (white blood cells), etc. The Minnesota team used a variety of combinations with chemicals called growth factors to turn embryonic stem cells into cells which displayed characteristics of different sort of cells. The lead researcher of the group, Dr Dan Kaufman claims that this new development may allow them to consider for future therapies, and that this may be "a source for bone marrow transplants" mainly for patients who do not have an appropriate donor.

"I suspect blood donation will remain the much quicker and easier alternative" - Professor Chris Higgins Source 9

On the other hand however, the quote above by Professor Chris Higgins, from the Medical Research Council Clinical Sciences (source 9), seems to contradict with the idea of forming a supply of embryonic stem cells. It appears to be a huge leap forward for Higgins who seems to be not totally satisfied whether this step will be "clinically useful", and claims that blood donation is still the fastest alternative to treatment. Furthermore a representative of the National Blood Service supports Higgins by suggesting that "research was still at an early stage. This indicates that this piece of research is still an unsure procedure in which further research should be carried out in order to become future treatments of genetic disorders like thalassaemia. Furthermore this source was released back in November 2004, which may suggest that research has already began implying the source may be out of date.

Pluripotent stem cells (iPS cells) may also be an alternative to treatments of genetic disorders. If in the right conditions, a stem cell that is isolated from an embryo is able to 'differentiate' into almost all types of tissue cells.

Pluripotent Stem Cells:

Embryonic Stem cells are derived from embryos generated by vitro fertilisation.

The egg then divides in cell culture.

With more divisions, a blastocyst is formed, a multicellular ball of cells.

The blastocyst has two layers - outer layer, trophoblast (eventually forms into placenta) and the inner layer called the inner cell mass.

The stem cells from the inner cell mass are transferred to a petri dish for culturing.

From the cell culture, the embryonic stem cells are known as 'pluripotent' as they have the potential to become such a variety of specialised cells (e.g. cardiac muscle cells, nerve cells, red blood cells, etc)

Above - Pluripotent Stem Cells: Source 6

Source 14 describes that iPS cells may seem to be a general interest in stem cell research, in terms of treating and perhaps finding an official cure to all types of genetic disorders such as thalassaemia. The source claims it "promises to overcome several key issues, including the ethical concerns of using human embryonic stem cells". As shown in the diagram of 'Pluripotent Stem Cells', after embryonic stem cells have been isolated they begin to divide to form all cell types needed in future. Due to this they provide an idea for scientists in which they will be able to repair faulty genes from individuals using these iPS cells. This therefore provides a great significance in future treatments of thalassaemia and other genetic disorders. (L, 2010)

"Pluripotent stem cells provide a chance to obtain a renewable source of healthy cells and tissues to treat a wide array of diseases" - Source 7

However source 13 is an article released by The Times who claims that iPS cells may actually, hold their own ethical issues. Embryonic stem cells are derived from an individual's blastocyst, which are then transferred for cell culture, to form iPS cells. Many researchers argue that it is unethical to use human embryos for research, as they have "the same right to life as born people". In addition source 13 also claims that research from the Chinese Academy of Science raises more questions, to how iPS cells are different to an embryo as they both have the "capacity to generate the cells" to make a living organisms. This therefore shows a philosophical problem for those who "reject embryonic stem cells as unethical but approve iPS cell research". The ethics of iPS cells are not clear enough as embryo-rights campaigners suggest. (Henderson, 2009)

I believe that embryos should be used for research under the right circumstances; if a mother would like to undergo an abortion, she may volunteer to donate her embryo for stem cell research. This way this minimises the psychological stress of keeping the embryo, which can be used to develop research on finding an 'official' cure for thalassaemia.

Understanding the above, it can clearly be deduced that Thalassaemia is a very important issue and in order for this problem to be dealt with, scientists should all ponder upon techniques in order to reduce the spread. Currently, blood transfusions remain the best treatment for thalassaemia and are potentially life-saving, though iron chelation therapy must be added in the process to reduce the buildup of iron in the blood, from the regular transfusions. In terms of cures, bone marrow transplantation from stem cells seems to be the possible solution for thalassaemia individuals despite the possible risks it involves. Alternatively, the next step to stem cell treatment is the use iPS cells which could be used to produce different types of cells by cell culture and repair damaged stem cells in individuals. On the other hand, many still believe that the use of embryonic stem cells is unethical so still remains an idea of a final cure. Despite these issues of possible cures, thalassaemia has recently been identified as a protection belt against the common killer 'Malaria'. This raises new ideas of research in scientists, in terms of finding the link between thalassaemia and malaria in the hope of finding a final cure for thalassaemia individuals in developing countries of South America, Asia and parts of Africa.