Overview

Thalassaemia is the name for a group of inherited conditions that affect a substance in the blood called haemoglobin.

People with thalassaemia produce either no or too little haemoglobin, which is used by red blood cells to carry oxygen around the body.

This can make them very anaemic (tired, short of breath and pale).

It mainly affects people of Mediterranean, south Asian, southeast Asian and Middle Eastern origin.

There are different types of thalassaemia, which can be divided into alpha and beta thalassaemias. Beta thalassaemia major is the most severe type.

Other types include beta thalassaemia intermedia, alpha thalassaemia major and haemoglobin H disease.

It's also possible to be a "carrier" of thalassaemia, also known as having the thalassaemia trait.

Being a beta thalassaemia carrier will not generally cause you any health problems, but you're at risk of having children with thalassaemia.

Symptoms of thalassaemia

Most people born with thalassaemia experience health problems from a few months after birth.

Less severe cases may not be noticeable until later in childhood or even until adulthood.

The main health problems associated with thalassaemia are:

• anaemia – severe tiredness, weakness, shortness of breath, pounding, fluttering or irregular heartbeats (palpitations) and pale skin caused by the lack of haemoglobin
• too much iron in the body – this is caused by the regular blood transfusions used to treat anaemia and can cause problems with the heart, liver and hormone levels if untreated

Some people may also have delayed growth, weak and fragile bones (osteoporosis), and reduced fertility.

Causes of thalassaemia

Thalassaemia is caused by faulty genes that affect the production of haemoglobin.

A child can only be born with thalassaemia if they inherit these faulty genes from both parents.

For example, if both parents have the faulty gene that causes beta thalassaemia major, there's a 1 in 4 chance of each child they have being born with the condition.

The parents of a child with thalassaemia are usually carriers. This means they only have 1 of the faulty genes.

Screening and testing for thalassaemia

Thalassaemia is often detected during pregnancy or soon after birth.

Screening for thalassaemia in pregnancy is offered to all pregnant women in Wales to check if there's a risk of a child being born with the condition, and some types may be picked up during the newborn blood spot test (heel prick test).

Blood tests can also be carried out at any age to check for thalassaemia or to see if you're a carrier of a faulty gene that causes it.

Treatments for thalassaemia

People with thalassaemia major or other serious types will need specialist care throughout their lives.

The main treatments are:

• blood transfusions – regular blood transfusions treat and prevent anaemia; in severe cases these are needed around once a month
• chelation therapy – treatment with medicine to remove the excess iron from the body that builds up as a result of having regular blood transfusions; some people with thalassaemia get a build-up of iron even without transfusions and need treatment for this

Eating a healthy diet, doing regular exercise and not smoking or drinking too much alcohol can also help you stay as healthy as possible.

The only possible cure for thalassaemia is a stem cell or bone marrow transplant, but this is not done very often because of the risks involved.

Outlook for thalassaemia

Although the main health problems associated with thalassaemia can often be managed with treatment, it's still a serious health condition that can have a significant impact on a person's life.

Even in mild cases, there's still a risk you could pass on a more serious type to your children.

Without close monitoring and regular treatment, the most severe types can cause serious organ damage and be life threatening.

In the past, severe thalassaemia was often fatal by early adulthood. But with current treatments, people are likely to live into their 50s, 60s and beyond.

Carriers of thalassaemia (having the thalassaemia trait)

A carrier of thalassaemia is someone who carries at least 1 of the faulty genes that causes thalassaemia, but does not have thalassaemia themselves. It's also known as having the thalassaemia trait.

If you're a thalassaemia carrier, you will not develop thalassaemia. Being a carrier will not generally cause you any health problems.

But you may get mild anaemia because your red blood cells are smaller than usual and your haemoglobin level may be slightly lower than normal.

This is not the same as iron deficiency anaemia and does not need any treatment.

If you're a thalassaemia carrier, you're at risk of having a child with thalassaemia if your partner is also a carrier.

You can request a blood test to check if you're a carrier of thalassaemia from your GP surgery.

Symptoms

Thalassaemia can cause a wide range of health problems, although treatment can help keep many of them under control.

Children born with the main type of thalassaemia, beta thalassaemia major, usually develop symptoms a few months after birth.

Less severe types may not cause any noticeable problems until later in childhood, or even until adulthood.

If you're a carrier of thalassaemia, you'll usually be healthy and will not have any symptoms.

If you have thalassaemia, you may have some of the symptoms discussed on this page.

Anaemia

Almost everyone with thalassaemia major or other serious types will develop anaemia, which can be life threatening in severe cases.

In anaemia there are low levels of haemoglobin, a substance that transports oxygen, in the blood.

It typically causes:

• tiredness and a general lack of energy 
• shortness of breath
• pounding, fluttering or irregular heartbeats (palpitations)
• pale skin
• yellowing of the skin and eyes (jaundice)

Frequent blood transfusions are usually needed for life to stop anaemia becoming severe.

Too much iron in the body

Most people with thalassaemia major or other severe types will also be at risk of developing a range of health problems caused by a build-up of iron in the body. It's usually a side effect of repeated blood transfusions.

Too much iron in the body can cause:

• heart problems – including problems affecting the heart muscle (cardiomyopathy), an irregular heartbeat and heart failure
• swelling and scarring of the liver (cirrhosis)
• delayed puberty
• low levels of oestrogen (in women) or testosterone (in men)
• diabetes
• problems with the thyroid gland (hypothyroidism) and parathyroid glands (hypoparathyroidism)

Lifelong treatment with medicine to stop iron building up to harmful levels will usually be needed. This is known as chelation therapy.

Other problems

Thalassaemia major or other severe types can also sometimes cause a number of other problems.

These include:

• delayed growth during childhood
• small stones in the gallbladder (gallstones), which can cause inflammation of the gallbladder (cholecystitis), tummy (abdominal) pain and jaundice
• unusual bone growth, such as an enlarged forehead or cheeks
• weak, fragile bones (osteoporosis)
• reduced fertility – some people with thalassaemia may need fertility treatment to help them have children

Who can get it

Thalassaemia is caused by faulty genes that a child inherits from their parents.

It's not caused by anything the parents did before or during the pregnancy, and you cannot catch it from someone who has it.

How thalassaemia is inherited

Genes come in pairs. You inherit 1 set from your mother and 1 set from your father.

To be born with the main type of thalassaemia, beta thalassaemia, a child has to inherit a copy of the faulty beta thalassaemia gene from both of their parents.

This usually happens when both parents are "carriers" of the faulty gene, also known as having the "thalassaemia trait".

Thalassaemia carriers do not have thalassaemia themselves, but there's a chance they could have a child with thalassaemia if their partner is also a carrier.

If both parents have the beta thalassaemia trait, there's a:

• 1 in 4 chance each child they have will not inherit any faulty genes and will not have thalassaemia or be able to pass it on
• 1 in 2 chance each child they have will just inherit a copy of the faulty gene from 1 parent and be a carrier
• 1 in 4 chance each child they have will inherit copies of the faulty gene from both parents and will be born with thalassaemia

Another type of thalassaemia, alpha thalassaemia, has a more complex inheritance pattern because it involves 4 potentially faulty genes, rather than just 2.

Children of parents who are carriers of the alpha thalassaemia trait will be born with the condition if they inherit 3 or 4 copies of the faulty gene.

Children who inherit 1 or 2 copies will be carriers.

Who's most at risk of thalassaemia

Thalassaemia mainly affects people who are from, or who have family members originally from:

• around the Mediterranean, including Italy, Greece and Cyprus
• India, Pakistan and Bangladesh
• the Middle East
• China and southeast Asia

A simple blood test will show whether you're a carrier. This is done routinely during pregnancy and after birth, but you can ask to have the test at any time.

Diagnosis

Thalassaemia is often detected during pregnancy or soon after birth.

Blood tests can also be carried out at any time to check for thalassaemia or see if you're a carrier of thalassaemia and are at risk of having a child with it.

Screening during pregnancy

Screening to check if a baby is at risk of being born with thalassaemia is offered to all pregnant women in Wales.

This involves having a blood test to check if you have the thalassaemia trait.

If the mother does have the trait, the father is then offered a test to see if he carries it, too.

Screening should ideally be carried out before you're 10 weeks pregnant so you and your partner have time to consider the option of further tests to find out if your baby will be born with thalassaemia.

Testing after birth or later in life

Newborn babies are not routinely tested for thalassaemia because the test used is not always reliable soon after birth and thalassaemia is not immediately dangerous.

But the main type, beta thalassaemia major, is often picked up as part of the newborn blood spot test (heel prick).

A blood test can be carried out at any point to diagnose thalassaemia if a child or adult has symptoms of thalassaemia and the condition was not picked up earlier on.

Testing for the thalassaemia trait

A blood test can be done at any time to find out if you have the thalassaemia trait and are at risk of having a child with thalassaemia.

This can be particularly useful if you have a family history of the condition or your partner is known to carry thalassaemia.

If you're worried that you could be a carrier of thalassaemia, ask for a test from your GP surgery or nearest sickle cell and thalassaemia centre. Both men and women can have the test.

Treatment

Thalassaemia usually requires lifelong treatment with blood transfusions and medication.

Children and adults with thalassaemia will be supported by a team of different healthcare professionals working together at a specialist thalassaemia centre.

Your healthcare team will help you learn more about thalassaemia and work with you to come up with an individual care plan that takes all your needs and health concerns into account.

Blood transfusions

Most people with thalassaemia major or other severe types will need to have regular blood transfusions to treat anaemia.

This involves being given blood through a tube inserted into a vein in your arm. It's usually done in hospital and takes a few hours each time.

How often you need to have transfusions depends on the type of thalassaemia you have.

People with the most severe type, beta thalassaemia major, may need a blood transfusion about once a month. Those with less severe types may only need them occasionally.

Blood transfusions are very safe, but they can cause too much iron to build up in the body, so you'll need to take medicine to remove the excess iron.

Medicine to remove excess iron

Treatment to remove excess iron caused by regular blood transfusions is known as chelation therapy.

It's very important because high levels of iron in the body can damage organs.

Medicines used in chelation therapy are known as chelating agents.

There are 3 chelating agents currently available:

• desferrioxamine (DFO) – given as an infusion, where a pump slowly feeds the liquid medicine through a needle into your skin over 8 to 12 hours; this is done 5 or 6 times a week
• deferiprone (DFP) – taken as a tablet or liquid 3 times a day; it's sometimes used alongside DFO to reduce the number of infusions you need
• deferasirox (DFX) – taken once a day as a tablet that you dissolve in a drink

Each medicine has its own advantages and disadvantages. Your healthcare team will help you decide which is likely to be best for you or your child.

Stem cell or bone marrow transplants

Stem cell or bone marrow transplants are the only cure for thalassaemia, but they're not done very often because of the significant risks involved.

Stem cells are produced in bone marrow, the spongy tissue found in the centre of some bones, and have the ability to develop into different types of blood cells.

For a stem cell transplant, stem cells from a healthy donor are given through a drip into a vein.

These cells then start to produce healthy red blood cells to replace the cells affected by thalassaemia.

A stem cell transplant is an intensive treatment that carries a number of risks.

The main risk is graft versus host disease, which is a life-threatening problem where the transplanted cells start to attack the other cells in your body.

For people with serious types of thalassaemia, the long-term benefits of a stem cell transplant will need to be considered against the possible risks to help determine whether the treatment is suitable.

Treating other problems

Thalassaemia can also cause a number of other health problems that may need to be treated.

For example:

• hormone medication may be used to help trigger puberty in children with delayed puberty and treat low hormone levels
• vaccinations and antibiotics may be recommended to prevent and treat infections
• thyroid hormones may be used if there's a problem with your thyroid gland (hypothyroidism)
• medicines called bisphosphonates may be used to help strengthen your bones
• gallstones may be treated with gallbladder removal surgery

Living with

There are a number of things you can do to help you stay as healthy as possible if you have thalassaemia.

Healthy lifestyle

To help reduce your chances of developing some of the problems associated with thalassaemia, it's a good idea to:

• have a healthy, balanced diet – you do not usually need a special diet, although sometimes you may be advised to take supplements such as folic acid, calcium or vitamin D
• exercise regularly – regular exercise, particularly weight-bearing and aerobic exercise, can help strengthen bones and reduce the risk of osteoporosis
• avoid smoking and drinking excessive amounts of alcohol – this can help keep your bones and heart healthy
• try to avoid infection – wash your hands with soap and water regularly, avoid close contact with sick people when possible, and ensure all your vaccinations are up-to-date

Make sure you take your medicine as advised and attend all of your check-ups.

Talk to the doctor or nurse at your check up if you're finding it hard to manage your condition. There is support available 

Pregnancy and contraception

Women with thalassaemia major or other severe types can have a healthy pregnancy, but it's a good idea to speak to your care team for advice first because:

• it may be useful to find out if your partner is a carrier of thalassaemia and discuss the effects of this with a genetic counsellor
• some people with thalassaemia need fertility treatment to help them get pregnant
• during pregnancy there's an increased risk of problems, such as heart problems in the mother and growth problems in the baby 
• you may need extra monitoring and changes to your treatment during pregnancy

If you're not planning a pregnancy, use a reliable form of contraception.

Precautions before you have surgery

It's important to let your healthcare team know if you need to have an operation under general anaesthetic at any point.

You should also tell your surgeon that you have thalassaemia.

This is because general anaesthetic can cause problems such as an increased risk of blood clots for people with thalassaemia.

You may need close monitoring during surgery and a blood transfusion before or afterwards to reduce the risk of complications.

When to get medical advice

It's important to make sure you know when to get medical advice and where to go, as thalassaemia can cause a number of serious problems that can appear suddenly.

Carriers

If you're a carrier of thalassaemia, it means you carry 1 of the faulty genes that cause thalassaemia, but you do not have thalassaemia yourself.

Being a carrier of the trait is sometimes known as having the thalassaemia trait or having thalassaemia minor.

If you carry thalassaemia, you will not ever develop thalassaemia, but you may sometimes experience mild anaemia. This is because your red blood cells are smaller than usual.

This type of anaemia is different from iron deficiency anaemia and does not need any treatment.

You can find out if you're a carrier of thalassaemia by having a simple blood test.

Who can carry thalassaemia?

Anyone can be a carrier of thalassaemia, but it's much more common in people from certain ethnic backgrounds.

Thalassaemia mainly affects people who are from, or who have family members originally from:

• around the Mediterranean, including Italy, Greece and Cyprus
• India, Pakistan and Bangladesh
• the Middle East
• China and southeast Asia

You can have a blood test to see if you're a carrier if you think you may be at risk.

Testing for the thalassaemia trait

Screening for thalassaemia is offered to all pregnant women in Wales.

Alternatively, anyone can ask to have a free test to find out if they're a carrier at any point.

This can be particularly useful if:

• you have a family history of thalassaemia or the thalassaemia trait
• you're sexually active and want to find out if you're at risk of having a child with thalassaemia
• your partner is known to have the thalassaemia trait

You can request the test from your GP surgery. A genetic counsellor will discuss the result and implications with you if you're found to have the trait.

Having children

If you have the thalassaemia trait, you're at risk of having children with thalassaemia if your partner is also a carrier or has thalassaemia themselves.

If you're planning to have a child and you know you're a carrier, it's a good idea for your partner to be tested as well.

If you and your partner both have the trait for the main type of thalassaemia (beta thalassaemia), there's a:

• 1 in 4 chance each child you have will not have thalassaemia or carry the thalassaemia trait
• 1 in 2 chance each child you have will be a carrier of thalassaemia, but will not have the condition themselves
• 1 in 4 chance each child you have will be born with thalassaemia

If both of you are carriers and you're planning to have a baby, talk to your GP about getting a referral to a genetic counsellor, who can explain the risks to your children and what your options are.

These include:

• having tests during pregnancy to see if your baby has thalassaemia
• adopting a child
• trying in vitro fertilisation (IVF) with a donor egg or sperm
• trying pre-implantation genetic diagnosis (PGD), although this is not widely available in the UK

PGD is similar to IVF, but the resulting embryos are tested to check they do not have thalassaemia before they're implanted in the womb. 

The Human Fertilisation and Embryology Authority (HFEA) has more information about PGD.

Possible health problems

You will not develop thalassaemia at any point if you're a carrier of it.

You can live a normal life and generally will not have any health problems as a result of being a carrier.

But you may develop mild anaemia, which is where there are low levels of haemoglobin (a substance that transports oxygen) in the blood.

This can cause symptoms such as tiredness and pale skin, but may only be picked up with a blood test.

This type of anaemia is different from iron deficiency anaemia and does not need any treatment.

If you have anaemia, it's important not to take iron supplements for it unless you're diagnosed with iron deficiency anaemia.

Taking iron supplements when you already have enough iron in your body could be harmful.

Carriers of other blood disorders

People who are carriers of thalassaemia are also at risk of having a child with a blood disorder if their partner is a carrier of a different type of blood disorder.

More information is available from Public Health Wales.