Around 2,100 people in England live with thalassaemia (NHR – Home) with around 35 newborns each year in England diagnosed (Sickle cell and thalassaemia screening: data report 2019 to 2020 – GOV.UK). This group of inherited blood conditions, mainly affects people of Mediterranean, south Asian, southeast Asian and Middle Eastern origin. People with this condition might produce either no or too little haemoglobin. This is a problem, as haemoglobin is used by red blood cells to carry oxygen around the body.

Could I have thalassaemia?

Health problems due to thalassaemia, start early in life. Roanna Maharaj was diagnosed with beta thalassaemia major, the most severe type, four months after her birth in Trinidad and Tobago. Roanna says:

“My mother said I had gone from a being a feisty new-born; full of life and smiles to a lethargic baby, who was no longer feeding well. She instinctively knew something was wrong and pleaded with the paediatricians to find out why.

“It took doctors five weeks to replace their diagnosis of a neurotic first time mother to one where her baby had a severe form of thalassaemia and needed an emergency blood transfusion.”

Dr Shivan Pancham, Consultant Haematologist at Sandwell and West Birmingham Hospital’s Trust explains:

“Thalassaemia is rare in the UK. It’s an inherited condition, you can’t ‘catch’ it.”

How thalassaemia is inherited

“In England, people with the genes for thalassaemia might be described as ‘carriers’ or ‘having thalassaemia trait’,” says Dr Pancham.

“There is a chance of a baby having a moderate to severe form thalassaemia only if both the mother and father carry the gene for thalassaemia.”

Where both parents carry the gene, there is a one in four (25%) chance the baby will have thalassaemia. A two in four (50%) chance the baby won’t have thalassaemia but will carry the gene. A one in four (25%) chance the baby won’t have thalassaemia and won’t carry the gene.  

“If you have thalassaemia, you can only pass it onto your child if your partner also carries the gene. If your partner doesn’t have the gene, your baby won’t have thalassaemia but might carry the gene,” says Dr Pancham.

Thalassaemia diagnosis

Thanks to our screening programmes in the UK, women at risk of having a child with thalassemia are offered a test in pregnancy to see if the pregnancy is affected. Soon after birth thalassemia can be diagnosed with the newborn blood spot test.  The test looks at the different types of haemoglobin in the blood. Genetic tests are only used for prenatal diagnoses and often offered to children affected to inform clinical management.

“If we know your child has thalassaemia before or soon after their birth, we can begin treatment earlier, to improve their quality of life, health outcomes and to better support the family,” says Dr Pancham.

“However, for people who did not have the newborn heal prick often if born abroad, the condition is normally diagnosed when the infant becomes unwell, and a blood test is requested.”

Screening and testing

In England, you can ask your GP surgery about having a free test to find out if you’re a carrier at any point.

“Screening for Thalassaemia is important, as you might not know you are a thalassaemia carrier, as it doesn’t cause ill-health and you don’t have the condition,” says Dr Pancham .

All pregnant women, of all ethnicities in England are also offered screening for thalassaemia  says Dr Pancham. “I would advise anyone with thalassaemia, or carrying the trait or with a family history of the condition to ask their GP about the benefits of genetic counselling. Ideally, before you start trying for a baby.”

Living with thalassaemia

Thalassaemia usually requires lifelong treatment. To help people to get the care they need, the NHS advises every child and adult with thalassaemia should have an individual care and support plan. This helps all of the health professionals who provide care to understand what treatment should look like. This will include:

• Details of any blood transfusions to treat severe anaemia. (People living with beta thalassaemia major, may need a blood transfusion typically every 2-4 weeks. People with other types, might need them occasionally).
• Medicines taken now and previously, for example;
  • Iron chelation therapy to remove high levels of iron following regular blood transfusions, which if left, could damage their organs
  • treatment for health problems linked to thalassaemia such as vaccinations and antibiotics to prevent infections, hormone treatments for delayed puberty or problems with their thyroid gland, problems with their bones and issues relating to their heart and other organs.

Roanna needs a life-saving blood transfusion every two-weeks. She says:

“I need multiple medications to treat iron overload and other secondary conditions I have developed due to having a severe form of thalassaemia. My blood transfusions are lifesaving, but in 2011, I began adversely reacting to every single one of them which placed a significant impact on my daily life.”

The importance of ethnicity in blood donation

To reduce the risk of adverse reactions, especially in people needing regular transfusions, the donor blood needs to be closely matched to the patient’s blood type. Some of the rarer blood groups, are found in black, Asian and minority ethnic communities. Dr Sara Trompeter, a Consultant Haematologist at University College London Hospitals NHS Foundation Trust and NHS Blood and Transplant, explains:

“Whilst you might have heard of blood groups A, B, O and D, there are actually, more than 300 different blood groups. The closer donated blood more closely matches yours, the less likely it is that you will have a reaction to the blood such as form an antibody. Forming antibodies to blood can result in severe life-threatening reactions and make it very difficult to source blood in the future.”

Roanna adds:

“During one of my most severe spells in 2015-2018, I was severely fatigued, living with debilitating pain and virtually housebound. I needed a Zimmer frame to walk, a break during showering and help to feed myself.”

NHS Blood and Transplant (NHSBT) is looking for ways to make blood transfusions even better matched for people with blood disorders. The first step is to make sure we understand the extended blood group of our patients and our donors, and that the testing that is used is adept at picking up the rarer blood groups seen in people from a Black, Asian or minority ethnic background.  

NHSBT has introduced a new test, funded by NHS England and developed by the Blood transfusion Genomics Consortium (www.bgc.io), which is being offered to people with sickle cell, thalassaemia and people with rare inherited anaemias. This test uses genotyping technology, a way of testing blood groups using DNA, which is a better technique to pick up some of the rarer blood groups more commonly seen in those from minority ethnic groups. It is also a faster test and can be done at scale, and NHSBT has started using this test for donor testing too, to increase the numbers of donors with extended blood group testing. .

“I needed, and still need, ‘matched blood’, but there aren’t enough black and Asian donors in England to accommodate this. In one, intense two-year period I received 248 units of blood,” says Roanna.

To find out more and become a blood donor via the GiveBloodNHS app or at www.blood.co.uk. For more information about blood group genotyping visit NHS Blood and Transplant.

“We have blood donation sessions around the country, including a new donor centre in Brixton and donor centres in Stratford, Tooting, Colindale and the West End,” says Dr Trompeter. “Please give blood, you will save and improve lives. 

“And if you have thalassaemia, sickle cell or receive transfusions for your rare inherited anaemia, and live in England please speak to your clinical team about taking part in the Blood Group Genotyping Programme ask your hospital team about the genotyping test”

Is there a cure?

There are two potential cures for thalassaemia available on the NHS:

• Stem cell transplants – cells taken from a healthy stem cell donor are used to produce healthy red blood cells. These are used to replace the cells affected by thalassaemia.
• Gene therapy – approved for use in August 2024, this therapy works by editing a gene in a patient’s bone marrow stem cells so that the body produces functioning haemoglobin.

“Sadly, these very intensive treatments are not suitable for most people with thalassaemia,” says Dr Pancham. “We work with our patients who are dependent on regular blood transfusions to look at the long-term benefits and significant risks of treatment.” 

“I’m determined to live my life to the fullest and I’m blessed to have my family’s support. Despite the challenges, I have completed my undergraduate and graduate professional training in clinical health psychology. I also advocate and support others living with thalassaemia and other genetic blood conditions,” says Roanna.

Find out more about thalassaemia here:

NHS- https://www.nhs.uk/conditions/thalassaemia/

 UK Thalassaemia Society (UKTS)