What is Thalassaemia
Thalassaemia forms part of the haemoglobinopathies, a group of genetic blood disorders affecting the production of haemoglobin, when the body makes less haemoglobin than normal.
Blood is a red fluid freely flowing in the body, it is essential for maintaining the health and life of the human body. Blood is a mixture of a liquid called plasma about 55% and solids 45% blood cells (red blood cells, white blood cells and platelets). Blood has various important functions such as, supplying oxygen to cells and tissues, providing essential nutrients to cells, such as glucose, removing waste materials, such as carbon dioxide, protecting the body from diseases and infections, regulating body temperature. Any abnormalities, disorders and diseases of the blood can damage the many functions that the blood performs. There are various blood disorders, such as blood clotting, blood cancers, sickle cell anaemia and thalassaemia.
People with thalassaemia produce either no or too little haemoglobin. Haemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the body. Haemoglobin is made up of four subunits: two subunits of alpha-globin and two subunits of beta-globin. Alpha-globin is a component of both fetal haemoglobin, which is active only before birth and in the new-born period, and adult haemoglobin, which is active throughout the rest of life.
Thalassaemia is inherited from parents; it is not contagious, or a virus acquired from blood transfusions. It is passed on equally by men and women.
How is Thalassaemia inherited?
Thalassaemia is passed from parents to children through genes. A gene is a small packet of information that controls a characteristic in your body, by making very specialised protein molecules.
It is a section of DNA, the unique molecule that makes up your chromosomes. Genes make us who we are; they determine our characteristics, for example, the colour of our hair, our height and so on.
There are two copies of a gene in each cell. Each copy is called an allele: for everything we inherit, we get one allele from our mother and one allele from our father. In some cases, a gene can be missing, defective or altered from the usual form. This can cause disease.
In the case of a person with beta thalassaemia major, they have inherited two altered ß-globin genes from their parents (one from the mother and one from the father).
As a result of the altered – sometimes termed ‘mutated’ genes, the person cannot produce enough ß-globin, which forms part of haemoglobin. This is the substance in the red blood cell that carries oxygen.
At UCLH you will have access to the latest treatments and technology and have a personal, individual care plan based around your needs. You will receive expert care from an experienced team in a safe and award winning environment.
Your treatment will be delivered within a number of comprehensive specialised services led by medical and nursing cancer care experts. This is enhanced further by support from a dedicated team of Clinical Nurse Specialists (CNS) who complement the medical team and oversee your treatment journey. They offer on-going support from diagnosis and treatment to investigations and outcomes. This includes telephone advice and support when you are at home.
Your treatment plan
Treatment for beta thalassaemia major (TDT) is a lifelong process that requires different specialists to manage the complications of the condition.
If you or your child is diagnosed with thalassaemia, they'll be referred to a specialist clinic so that they can be fully assessed.
A person with TDT can receive their first blood transfusion from as early as few weeks old, this will continue throughout their life. Every 2-4 weeks individuals are required to attend the hospital and received donated red blood cells.
People with TDT and NTDT are encouraged to attend the hospital regularly for monitoring. This includes blood testing and follow up with a number of different specialists. It is very time consuming and individuals can be required to attend numerous appointments every month.
Thalassemia can have a huge impact on a person’s psychological wellbeing. It is a lifelong condition that makes regular hospital attendances mandatory. Thus it has a vast influence on every part of a person’s life from working or studying, to starting a family. It is important that individuals receive regular emotional and psychological support.
Medications are given in order to remove the excess iron that is stored from blood transfusions. There are currently three types of iron chelation.
Desferrioxamine (Desferal). Given as an infusion over 8-24 hours, normally 4-7 times a week. People taking desferrioxamine are required to self administer this medication via a small needle, usually into the stomach or thigh. As with any medication there are some associated side effects however, one of the most common side effects associated with desferrioxamine is the discomfort caused by the needle, perseverance is key with this treatment. In severe cases of iron overload intravenous desferrioxamine is sometimes necessary.
Deferiprone (Ferriprox). This is a tablet, normally taken three times a day. Side effects can include nausea and vomiting. Some individuals will experience a reduction in their white blood cells with can affect their ability to fight infection. Blood tests are recommended every 7-10 days while taking deferiprone.
Deferasirox (Exjade). Deferasirox is an effervescent tablet usually taken once a day. Individuals often experience gastrointestinal side effects such as nausea and diarrhoea and so can have difficulty taking it. It can also affect a persons kidneys and so regular blood and urine tests need to be undertaken.
Please note: UCLH cannot guarantee the quality of the information or advice provided by outside organisations and charities.
UK Thalassaemia Society
Dr Emma Drasar (Interview / 40th Anniversary)
Dr Emma Drassar Consultant haematologist at University Collage Hospital and Whittington Hospital in London. Caring for patients with Sickle Cell and Thalassaemia
About the UKTS
UKTS is the national charity for thalassaemia in the UK with over 43 years of experience in supporting patients, their families and the network of medical and educational professionals involved in their care. As the first port of call for all things thalassaemia, our over-riding aim is to improve the lives of all those living with the condition.
Causes of Thalassaemia
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.