Thalassemia

What is Thalassaemia?

1.0 Synopsis

This report is about Thalassaemia. Thalassaemia is a inherited disorder of the haemoglobin. I will only cover the two main Thalassaemia's types which are Thalassaemia major and Thalassaemia minor. The report contains the known causes for Thalassaemia, the Symptoms, some of the history of Thalassaemia, and most of all the treatment.

3.0 An Investigation into cause and effects of Thalassaemia

3.1 What Is Thalassaemia?

Thalassaemia may have originated over 50,000 years ago. In a valley south of Italy and Greece now covered by the Mediterranean Sea. The name Thalassaemia is derived from a Greek word meaning sea. But Thalassaemia was recognised as a clinical entity by Dr Thomas Cooley and Dr Pearl Lee who described five cases of Thalassaemia in 1925. (Oscar, Charles, Daniel, Eero, Peter, Munseys, Richard, Roy and Thomas 1987 page 284)

Thalassaemia is an inherited disorder in which there is an abnormality in one or more of the globin genes. To understand more about Thalassaemia you need to know a little about blood and about anaemia. Blood is made up of a lot of red cells in a clear, slightly yellow liquid called plasma. Red blood cell are produced constantly. Blood cells are replaced very quickly. That's why people can often give blood frequently.

The red in a persons blood contains a substance called Haemoglobin. Haemoglobin is very important because it carries oxygen from the lungs to where ever it is needed in the body. It also contains a lot of iron, and when red blood cells are broken down, most of the iron from the Haemoglobin is used again to make new Haemoglobin. People lose some iron from their bodes when urine is passed, this is compensated for when eating food which contains iron. The main reason why people need iron in their food is to make Haemoglobin. (McLaren June 1993 page 1)

3.2 Forms of Thalassaemia

There are two forms of Thalassaemia.
Thalassaemia Major
Thalassaemia Minor (Trait)

3.2.1 Thalassaemia Major?

Thalassaemia major is sometimes known as Cooleys Anaemia, Homozygous, Bete Thalassaemia or Mediterranean Anaemia. Is a serious inherited childhood anaemia. Children with Thalassaemia major cannot make enough haemoglobin. Because of this, their bone marrow cannot produce enough red blood cells. The red blood cells that are produced are nearly empty. (Thalassaemia newsletter Sep 1988 page 1)

3.2.2 Thalassaemia Minor?

People with Thalassaemia Minor, sometimes known as Trait, carry Thalassaemia but they are not ill. They are completely healthy and normal but some of them have slight anaemia. Most people with Thalassaemia Minor do not even know that they have it. It is only discovered if the person has a special blood test or if they have a child with Thalassaemia Major. It is important to know if you have Thalassaemia Minor later in life. The reason for this is that it may cause some problems if the person and their partner wants to start a family. Thalassaemia minors red blood cell are also different from normal blood cells. (Thalassaemia Newsletter July 1988 page 1)

3.3 Carriers of Thalassaemia

3.3.1 Number of people who are carriers of Thalassaemia around the World, Australia and Victoria

There are 100,000 children born in the world with Thalassaemia major. In Australia there are about 300 people with Thalassaemia. In Victoria there are about 180 people. There may also be 60,000 people to 100,000 people in Victoria who carry Thalassaemia Minor but don't even know it. (Hall 1994)

3.3.2 Who is likely to carry Thalassaemia?

People who are likely to carry the gene of Thalassaemia are people with Mediterranean descent, for example Cyprus, Egypt, Greece, India, Italy, Lebanon, Malta, Middle East, Turkey and some parts of South East Asia.

3.3.3 Can Thalassaemia major patients also carry other illnesses?

Thalassaemia major patients can also carry other illnesses such as Sickle Cells, Diabetes, liver dis.-function, and other illness that non Thalassaemia people can get for example Cancer.

3.4 What known cause for Thalassamia?

There is not a known cause for Thalassaemia except that is inherited through the genes.

3.5 What are the Symptoms? Are they detected early in childhood?

Children with Thalassaemia major are normal at birth but become anaemic between the ages of three months and eighteen months. They become pale, do not sleep well, do not want to eat, and may vomit their feeds. If children with Thalassaemia major are not treated, they have miserable lives. They usually die between one and eight years old.

3.6 What is the "quality of life" for a Thalassaemic?

A chronic illness always causes some limitation of quality of life, especially when it requires frequent and complex treatment, as Thalassaemia does. The treatment should not interfere with a Thalassaemic's life. In particular doctors and hospitals should make the effort to arrange out-patient visits and visits for transfusions so they interfere as little as possible with normal life. Treatment should not interrupt schooling or work. (Thalassaemia newsletter Dec 1991 page 2)

3.6.1 How long can a person with Thalassamia major live?

These days most Thalassaemics grow up to become adults, and earn their own living. Most also find a partner and get married. Now a number of Thalassaemia major patients have their own children.

It is very hard to know the answer for Thalassaemics who are well at present. The disorder and its influence are changing almost from day to day, because of advances in treatment. Thalassaemic patients are now living longer. Today it is reasonable to think that people with Thalassaemia major, who have been well treated from the beginning, may well live as long as people without Thalassaemia. Only time will tell. Even so Thalassaemics live with more risks than non Thlassaemic, because of the amount of medication and treatment they receive. But all medical treatments include some risk. (Thalassaemia newsletter Dec. 1991 page 2)

3.6.2 Can people with Thalassaemia major and minor have healthy children?

People with Thalassaemia major can have babies only if their partner does not carry any sort of Thalassamia. But all Thalassaemia major's patients children will carry Thalassaemia minor.

If a Thalassaemia major partner does not carry any Thalassaemia gene none of the children would have Thalassaemia major. (Thalassaemia newsletter June 1993 page 2)

3.6.3 What stages does a woman with Thalassaemia go throw states before, during and after pregnancy?

For a woman with Thalassaemia to have children they must have normal sexual development. Many young woman with Thalassaemia are not having their periods, or whose periods have started and then stopped. In this case they can be treated medically so that they produce eggs. If they are not physically fit, a pregnancy could be risky for them and the baby. An expected

mother should be fit, meaning they must use their pump regularly, her serum ferritin level should be around 1000 and her heart and liver should not have been damaged by iron overload. However, even if they are not perfectly fit, there is a chance that they could have a fairly normal pregnancy. Woman are advised to stop Desferal when they are trying to become pregnant, or as soon as they are pregnant. There is no evidence that Desferal can harm the foetus, but in general it is a good idea for any pregnant woman to not take drugs during pregnancy. Mothers who breast feed can start taking Desferal again as soon as the baby is born. Desferal does not pass from the mother's body into milk and so cannot harm the baby. Before a woman with Thalassaemia decides to have a baby they must take account about the long-term future, their own health, and survival or whether they will have support from their family's.

The chance of having a baby with Thalassaemia minor decrease if their partners have Thalassaemia minor. (Thalassaemia newsletter June 1993 page 2) and (Thalassaemia newsletter, Dec. 1991 page 2)

3.7 Treatment

3.7.1 History of treatment and Victoria treatment

In the 1940's, blood transfusions were introduced to treat Thalassaemia major patients on a rare bases due to a concern about transfusional iron overload causing organ damage or dysfunction and ultimate fatality. These transfusions had the effect of raising the haemoglobin levels from three to eight grams and therefore increasing the life expectancy between sixteen to eighteen years.
In the late 1960s, high transfusion on average high transfusion regimens were introduced involving regular blood transfusions on average every 4-8 weeks, depending upon individual requirements. The aim of this regimen is to maintain haemoglobin levels as close as possible to the normal range. Desferrioxamine was given by a daily intramuscular injection and was effective for up to 6 hours following each injection. Occasionally there were side-effects associated with this method, example hypotension, nausea and vomiting. (McLaren 1993 page 2)

3.7.2 What is the major treatment now?

The only treatment for Thalassaemia major is regular blood transfusions, usually every three or four weeks. Most children who have these transfusions, usually every three or four weeks grow normally and live quite happily into their early twenties. But to live longer, they need other treatment as well.

After each blood transfusion the red cells in the new blood are broken down slowly over the next four months. The iron from the red blood cells stays in the body. If it is not removed, it builds up and can damage the liver, the heart and other parts of the body. If this damage is not prevented most people with Thalassaemia major die when they are twenty years old.

At present the only way to remove the extra iron from the body is to give injections of a drug called Desferal (correct name is Desferrioxamine) This medication starts between the ages of 4 to 8 years old. Desferal is injected under the skin. The injections are given using a portable battery operated pump. This slowly empties in a 5/10ml syringe over 10/12.5 hours. The pump is used 5-7 nights of every week, therefore treatment takes place in the home. Usually the parents are responsible for the this until the child is able to take over. Desferal pick up the iron and carries it out in the urine. (Thalassaemia newsletter Sep 1988 page 1)

3.7.3 Do Thalassaemia person need to be on a special diet?

Thalassaemia major patents should try to keep away from high in iron foods such as red meat, liver, kidney, green leafy vegetables such as spinach, some breakfast cereals, wholemeal breads and alcohol. Although this is recommend, patients do not have to stick with this diet. (Thalassaemia newsletter July 1991 page 3)

3.7.4 Is the treatment effective?

This treatment is very successful and most children treated with blood transfusions and Desferal can now lead fairly normal healthy lives. But the treatment is unpleasant and often upsetting, it also interferes with their desire for an active social life sometimes medication is neglected. (Thalassaemia newsletter May 1988 page 3)

3.7.5 How is the treatment improving?

Treatment today is more advanced then what it was. A Thalassaemia person can enjoy a good quality life, lively in normal activities such as sport, study, work, marriage and family

An oral version in pill or liquid form, would greatly improve the quality and productivity of the lives of Thalassaemia major patients would be better. There have been scientists working on this pill it is known as L1. The results from the L1 have been good except of one specific side affect called "Neutropenia" which reduced the ability of the body to cope with infections so the Thalassaemic person has a risk to infections and can die due to this. But Ciba Geigy (company which researches, and will make the drug when it is discovered) promised to be more involve on the oral chelators. Ciba Geigy believe the oral chelator will be available before 1996 to 1997. Also scientists believe that a cure for Thalassaemia is possible through gene therapy and bone marrow transplantation. Gene therapy would correct the defected gene in Thalassaemia patients. This is done by transferring normal gene into the patients own bone marrow cells. But A bone marrow transplant proven to be a success however the odds against success with possible death over failure. (Newsletter Lifeline 1990)

3.7.6 Where are Thalassaemic people in Victorian treated?

Thalassaemia Major patients are treated at Monash Medical Centre in Clayton. The Doctor who is charge of all Thalassaemia Major patients is Dr Don Bowden.

3.8 Incidence of Thalassaemia

3.8.1 Is Thalassaemia in Victoria increasing, stable or decreasing?

In Victoria Thalassaemia major is decreasing, due to new screening, during which a sample is taken from the umbilical cord at an early stage of pregnancy to determine if the foetus has Thalassaemia major or not. If Thalassaemia major is found the baby will be terminated.

But Thalassaemia minor is increasing. This is because these is a large amount of people who are migrating here from South East Asia. (Hall 1994)