Online Shopping Customer Service 0300 3033380*
Home
Thalassaemia

Shopping Cart

Health Advice
Main Menu
Newsletter

Name:

Email:

Thalassaemia Content Supplied by NHS Choices
Introduction

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

People with the condition 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 a number of 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. Thalassaemia carriers don't have any serious health problems themselves, but are at risk of having children with the condition.

This page covers:

Symptoms

Causes

Screening and testing

Treatments

Outlook

Carriers

Symptoms of thalassaemia

Most people born with thalassaemia experience problems from a few months after birth. Less severe cases may not be noticeable until later in childhood or even until adulthood.

The main problems associated with thalassaemia are:

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

Some people experience other problems such as delayed growth, weak and fragile bones (osteoporosis), and reduced fertility.

Read more about the symptoms of thalassaemia.

Causes of thalassaemia

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

A child can only be born with the condition 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 25% chance of each child they have being born with the condition.

The parents of a child with the condition are usually carriers of thalassaemia (see below). This means they only have one of the faulty genes that causes the condition.

Read more about the causes of thalassaemia.

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 England 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 the condition or to see if you're a carrier of a faulty gene that causes it.

Read more about screening and testing for thalassaemia.

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 are given to treat and prevent anaemia; in severe cases these are needed around once a month.
  • Chelation therapy - treatment with medications to remove the excess iron from the body that builds up as a result of having regular blood transfusions. Some people experience 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 excessive amounts of alcohol can also help to ensure you stay as healthy as possible.

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

Read more about how thalassaemia is treated and living with thalassaemia.

Outlook for thalassaemia

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

Even in mild cases with few symptoms, there's still a risk you could pass on a more serious form of the condition to your children.

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

In the past, severe thalassaemia was often fatal by early adulthood. But with current treatments, average life expectancy is expected to increase significantly, with people likely to live into their 50s, 60s and beyond.

Carriers of thalassaemia (thalassaemia trait)

A carrier of thalassemia is someone who carries at least one of the faulty genes that causes thalassaemia, but doesn't have the condition themselves. It's also known as having the thalassaemia trait.

People with this trait won't develop severe thalassaemia, but are at risk of having a child with the condition if their partner is also a carrier.

You can request a blood test to check if you're a carrier of thalassaemia from your GP surgery or nearest sickle cell and thalassaemia centre.

Read more about being a thalassaemia carrier.

Symptoms

Thalassaemia can cause a wide range of 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 won't have any symptoms.

Some of the main problems associated with thalassaemia are outlined below, but not everyone with the condition will experience all of these.

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:

Frequent blood transfusions will usually be needed for life to stop anaemia becoming severe. Read more about treating thalassaemia.

Excess iron levels

Most people with thalassaemia major or other severe types will also be at risk of developing a range of 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:

Lifelong treatment with medication 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, including:

  • delayed growth during childhood
  • gallstones (small stones in the gallbladder), 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

Causes

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 can't catch it from someone who has it.

How thalassaemia is inherited

Genes come in pairs. You inherit one set from your mother and one 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 don't have thalassaemia themselves, but there's a chance they could have a child with the condition if their partner is also a carrier.

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

  • 1 in 4 (25%) chance each child they have will not inherit any faulty genes and won't have thalassaemia or be able to pass it on
  • 1 in 2 (50%) chance each child they have will just inherit a copy of the faulty gene from one parent and be a carrier
  • 1 in 4 (25%) 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 four potentially faulty genes, rather than just two.

Children of parents who are carriers for alpha thalassaemia trait will be born with the condition if they inherit three or four copies of the faulty gene. Children who inherit one or two 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.

Read more about getting tested for the thalassaemia trait and being a carrier of thalassaemia.

How thalassaemia affects the body

Your genes are the set of instructions found inside every cell in your body. They determine characteristics such as the colour of your eyes and hair.

People with thalassaemia have a problem with the genes involved in the production of haemoglobin - a substance found in red blood cells that's used to carry oxygen around the body.

In people with thalassaemia major or other severe types, either no or very little haemoglobin is produced, which can make them very anaemic if they don't have regular blood transfusions.

Diagnosis

Thalassaemia is often detected during pregnancy or soon after birth.

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

Screening during pregnancy

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

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 they carry 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.

Read more about screening for thalassaemia during pregnancy.

Testing after birth or later in life

Newborn babies aren't routinely tested for thalassaemia because the test used isn't always reliable soon after birth and the condition isn't immediately dangerous.

However, the main form of the condition - 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 the condition if a child or adult has symptoms of thalassaemia and the condition wasn't 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 the condition.

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, you can ask for a test from your GP surgery or nearest sickle cell and thalassaemia centre.

Both men and women can have the test.

Read more information about carriers of thalassaemia.

Treatment

Thalassaemia usually requires lifelong treatment with blood transfusions and medication.

The main treatments that may be used are outlined below:

Blood transfusions

Removing excess iron

Stem cell or bone marrow transplants

Treating other problems

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

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

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, but 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 medication to remove the excess iron (see below).

Removing 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.

The treatment will usually need to start once you or your child has had around 10 blood transfusions.

Medications used in chelation therapy are known as chelating agents. There are three chelating agents currently available:

  • desferrioxamine (DFO) - taken using a pump that slowly feeds the medicine through a needle into the skin (infusion) over 8-12 hours, five or six times a week
  • deferiprone (DFP) - taken as a tablet or liquid three 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 medication has its own advantages and disadvantages. Your care 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 problems that may need to be managed. For example:

Living-with

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

See below for information about:

Healthy lifestyle

Pregnancy and contraception

Surgery precautions

When to get medical advice

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 don't 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

You should also make sure you take your medication as advised and attend all of your check-ups.

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 to discuss the effects of this with a genetic counsellor
  • some people with thalassaemia need fertility medication 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, you should use a reliable form of contraception.

Surgery precautions

It's important to let your care 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 thalassemia.

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 because thalassaemia can cause a number of serious problems that can appear suddenly.

Problems to look out for include:

Contact your GP or care team immediately if you develop any of the above symptoms. If this isn't possible, go to your nearest accident and emergency (A&E) department. If you aren't well enough to travel to hospital yourself, dial 999 for an ambulance.

Make sure the medical staff looking after you are aware that you have thalassaemia.

Carriers

If you're a carrier of thalassaemia it means you carry the faulty genes that cause thalassaemia, but you don't have any serious health problems yourself.

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

People who have the thalassaemia trait won't ever develop severe thalassaemia, but may be at risk of having a child with the condition and may sometimes experience mild anaemia.

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

This page covers:

Who can carry thalassaemia

Testing for the thalassaemia trait

Advice about having children

Possible health problems

Carriers of other blood disorders

The NHS Sickle Cell and Thalassaemia Screening Programme also has detailed leaflets about being a beta thalassaemia carrier (PDF, 804kb) or a delta beta thalassaemia carrier (PDF, 779kb) that you might find useful.

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 (see below).

Testing for the thalassaemia trait

Screening for thalassaemia is offered to all pregnant women in England. Read more about screening for thalassaemia in pregnancy.

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 or nearest 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, although this can only happen 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 (25%) chance each child you have will not have thalassaemia or carry the thalassaemia trait
  • 1 in 2 (50%) chance each child you have will be a carrier of thalassaemia but won't have the condition themselves
  • 1 in 4 (25%) 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 is affected by thalassaemia major
  • adopting a child
  • trying in vitro fertilisation (IVF) with a donor egg or sperm
  • trying pre-implantation genetic diagnosis (PGD), although this isn't widely available in the UK

PGD is similar to IVF, but the resulting embryos are tested to check they don't have sickle cell disease before they're implanted in the womb. The Human Fertilisation and Embryology Authority (HFEA) has more information about PGD.

Possible health problems

You won't develop severe thalassaemia at any point if you're a carrier of the condition. You can live a normal life and won't experience any significant health problems as a result.

However, 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 (fatigue) and pale skin, but may only be picked up with a blood test.

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.

You can find more detailed information about some of the other types of carrier in the following leaflets:

 
Top