Beta thalassaemia

This resource is new parents and carers of a child with beta thalassaemia major.

What is beta thalassaemia?

Beta thalassaemia is an inherited condition affecting haemoglobin. Haemoglobin is the chemical inside the red blood cells which carries oxygen from the lungs to all body parts. People with beta thalassaemia cannot make enough of the usual adult haemoglobin, so if they are not diagnosed and treated they become severely anaemic.

Who gets beta thalassaemia?

Beta thalassaemia is seen most commonly in people who originate from areas of the world where malaria is or was common. This includes, Mediterranean Islands, Asia, the Middle and the Far East.

Because of migration and intermarriage it is also seen in other parts of the world including England. For example, 1 in 7 Greeks, 1 in 12 Turks, 1 in 10 to 20 Asians, 1 in 50 Black people, and 1 in 1000 English Caucasians have beta thalassaemia trait.

Why does it occur?

Beta thalassaemia occurs when a person has inherited genes which makes them unable to make enough of the protein part of haemoglobin. Genes are the tiny structures that carry genetic information on the chromosomes. Beta thalassaemia is just 1 out of around 600 genetic conditions affecting haemoglobin in humans.

What is beta thalassaemia major?

Beta thalassaemia major is the most serious of the beta thalassaemia diseases and happens when a person has inherited the beta thalassaemia haemoglobin genes from both parents (one from each parent). If both parents pass on a beta thalassaemia gene (BThal) to one or more of their children, their children will have beta thalassaemia major (HbBThal).

There are other forms of beta thalassaemia disease and these can be mild or as serious as beta thalassaemia major. For example, if one parent passes on a beta thalassaemia gene (BThal) and the other parent passes on another unusual haemoglobin gene, such as haemoglobin E, the child will inherit haemoglobin E beta thalassaemia (HbEBThal) disease. Haemoglobin E beta thalassaemia can be mild or it can be as serious as beta thalassaemia major.

How do you get beta thalassaemia?

We all get many of our characteristics through the genes we inherit from our parents, for example, the shape of our nose, colour of our eyes, whether we are tall or short, and whether we have blonde or black hair.

Similarly, we inherit our haemoglobin type through the genes we get from our parents. We get one beta haemoglobin gene from our mother and the other from our father.

The usual, most common haemoglobin is called haemoglobin A. If a person inherits 2 haemoglobin A genes, they will have haemoglobin AA (commonly written as ‘HbAA’). Beta thalassaemia happens as a result of a person inheriting a beta thalassaemia gene (BThal) from both parents.

Beta thalassaemia trait (minor)

Some people inherit 1 haemoglobin A gene and 1 beta thalassaemia gene and have beta thalassaemia trait. This is sometimes called ‘beta thalassaemia minor’, or ‘beta thalassaemia carrier’ (commonly written ‘HbABThal’).

People with beta thalassaemia minor have red blood cells which are a bit paler and smaller than normal red blood cells. They are also a little anaemic, but this anaemia does not usually need treatment. However, they can pass on the beta thalassaemia gene (BThal) to their children.

For example, if both parents with beta thalassaemia trait (HbABThal) have a child, there is a:

• 1 in 4 chance of the child inheriting the usual haemoglobin combination (HbAA)
• 2 in 4 chance of the child inheriting beta thalassaemia trait (HbABThal)
• 1 in 4 chance of the child inheriting beta thalassaemia disease, commonly called beta thalassaemia major (HbBThal)

Beta thalassaemia major is a serious blood disease.

These chances are the same every time that couple have a child.

Here is how it works, each parent will give the child just one haemoglobin:

What happens if someone has beta thalassaemia major?

People with beta thalassaemia major are unable to make the chemical needed for producing enough mature haemoglobin. Haemoglobin is essential for carrying oxygen around the body. Without enough haemoglobin, the body cannot carry oxygen properly and without blood transfusions the person will not survive.

The symptoms of beta thalassaemia major usually start when a baby is 3 to 6 months old. The babies starts to:

• lose weight
• have difficulty with feeding
• may be breathless
• may look pale
• get infections easily
• appears generally unwell

Babies with this disease can become very anaemic if not diagnosed and they are not given blood transfusion. Symptoms of this are:

• appear pale
• feel tired and lethargic
• breathless
• have difficulty with minimal physical activity
• may be yellowing (jaundice) of the eyes and skin due to too much breakdown of red blood cells
• growth may be delayed, especially if they are not given treatment

With good medical care these symptoms can be prevented or treated.

What is the usual treatment for beta thalassaemia major?

To be able to live a normal life, people with beta thalassaemia major need regular blood transfusions about every 4 to 6 weeks throughout their life.

Without regular blood transfusions, people with beta thalassaemia major cannot live very long and usually die before the age of 10 years. But with regular blood transfusion they do very well and live into adulthood.

What other treatment is given?

Iron chelators

People with beta thalassaemia major still absorb iron from the food they eat, but they also get iron from the blood transfusion, so they have too much iron in the body, this is called ‘iron overload’.

Too much iron is bad for the body as it is deposited in vital organs such as the heart, liver, and the glands responsible for growth and development. The iron in these places causes damage to the organs and glands so that they do not work properly.

To get rid of this excess iron, people with beta thalassaemia major are given special medications called Desferal, Deferasirox, or Deferiprone (given individually or occasionally in combination) which helps their body get rid of the excess iron through the wee and poo.

These medicines are ‘iron chelators’ which means they attach to the excess iron in the body and help to remove it.

Desferal has to be injected under the skin through a special pump which takes about 6 to 8 hours to go through. This needs to be done around 5 nights per week. People usually use this pump during the night whilst they are asleep.

Deferasirox is taken as a tablet once per day and Deferiprone is given as a tablet 3 times per day.

With iron chelators and regular blood transfusions you can feel well and lead a normal life.

Are blood transfusions dangerous?

People who need regular blood transfusions may worry about the risk of infections from the blood.

Some infections can be passed on through blood transfusion but this is very rare, especially in countries like the UK where all donors and donated blood are tested rigorously to make sure that they are free from infection.

Hepatitis, a disease of the liver caused by a large number of viruses, is one of the most common infections which can be passed on through blood transfusion. All blood donors are tested for this and a wide range of other infections including Acquired Immune Deficiency Syndrome (AIDS). If the test is positive, the donor can no longer give blood.

To be extra safe, people with beta thalassaemia major are also given the hepatitis B vaccination to protect them against the most common hepatitis virus.

Will iron tablets help?

No, iron tablets are different. Although beta thalassaemia causes an ‘anaemia’ it is not the same as iron deficiency anaemia. In iron deficiency anaemia there is lack of iron in the body. People with beta thalassaemia disease have too much iron in the body. Having iron tablets or tonics can make this worse.

Normal red blood cells are mature before they get released from the bone marrow into the blood circulation. Beta thalassaemia red blood cells are not mature enough when they get released into the blood circulation. They are very weak, fragile, cannot carry oxygen very well. Because they are so fragile, they cannot cope with the knocks and bumps they get in the blood circulation and become damaged. Thalassaemia red blood cells only live a few hours in circulation before they get too damaged and destroyed. This short life span of these immature red blood cells is what causes the anaemia, not lack of iron.

Giving iron tablets or tonics can do more harm than good and is not recommended unless a special blood test has proven you are genuinely lacking in iron and the medication is prescribed by their doctor.

Is there a cure for beta thalassaemia disease?

Yes, there is a cure. It is called bone marrow transplantation (BMT).

Bone marrow from an unaffected sibling can be transplanted to the person with beta thalassaemia disease. It is best done when they are very young (between 2 and 6 years).

This treatment has been given successfully to many people worldwide. However, this treatment is not without risks and side effects and the physical, emotional, and psychological effects can be just as distressing as living with the disease. Families need to think through the decision to have a bone marrow transplant very carefully after they have been given all the up to date information about it.

How can families help?

The most important part a family can play is to learn as much as possible about beta thalassaemia major so that they can give support and encouragement to your child growing up and living with beta thalassaemia disease. The psychological and emotional stress of living with beta thalassaemia major can be reduced if individuals and families try to live as normal a life as possible, whilst coping with the demands of the disease.

Getting involved with local support groups and voluntary organisations is also a practical way of helping people with beta thalassaemia major. The UK Thalassaemia Society is a national voluntary organisation based in London and offers information, advice, and provides a forum for individuals, families and communities to give and receive mutual support. This organisation also acts as a lobby group to make sure that services are provided for people with beta thalassaemia major nationwide. The UK Thalassemia Society can be contacted on 020 8882 0011.