A Parent’s Guide to Thalassaemia

 In Stem Cell News

Finding out that your child has a serious illness that will affect their life can be devastating. You may feel confused, shocked, angry, guilty or a whole range of other emotions that your child has received a diagnosis for an inherited disease such as thalassaemia. One thing is sure: that you will want to find out how you can best support your child and what treatments are available for them, so that you can be better prepared to help them to manage their condition.

What is Beta Thalassaemia?

Beta thalassaemia is an inherited blood disorder with more than 60,000 infants born worldwide with the disease each year. It may not be apparent at birth, but is usually diagnosed in their first 2 years of life when they start presenting symptoms of anaemia.

It is caused by mutations in a gene required for making haemoglobin normally – the protein that carries oxygen in the blood. These mutations either prevent or reduce the production of haemoglobin, which can cause a shortage of mature red blood cells (RBCs) and lead to serious anaemia. Thalassaemia can be a debilitating disease with blood transfusion dependence for life.

There are three different types of beta thalassaemia which indicate the severity of the disease:

  • minor (sometimes known as beta thalassaemia trait)
  • intermedia
  • major (also called Cooley’s anaemia).

Those with beta thalassaemia intermedia or major often experience a build up of iron in the body that can cause damage to the heart and liver. They may also suffer from an enlarged spleen, repeated infections and bone deformities.

What treatments are available for Thalassaemia?

Those with beta thalassaemia minor usually do not show any symptoms and so do not often require treatment aside from genetic counselling later in life as they will need to be aware of this inherited condition being passed down.

For those people with beta thalassaemia major, regular blood transfusions are usually necessary – this may be up to every 2 weeks throughout their lives. There is also medicine available which can help to reduce excess iron in the body.

These treatments will not, however, provide a cure for thalassaemia.

Is there a cure for Thalassaemia?

Stem cell transplantation using  bone marrow or blood from a matched donor or sibling without the disease is generally accepted as the only permanent curative option available for patients suffering who require regular transfusions. This type of transplant relies on having a matched donor and is not without risks.

Promising Futures for Thalassaemia Treatments

Recently, there has been considerable interest in an exciting new approach focussing on gene therapy to correct the faulty gene in beta-thalassaemia patients.

The aim is for patients to no longer need blood transfusions, which can cause even more issues when used over a sustained period of time.

The gene therapy process uses the patient’s own (haematopoietic) blood making stem cells which are genetically modified in the laboratory to correct the genetic flaw.

This changes the genetic code in the blood stem cells to turn haemoglobin production back on. Patients receive conditioning chemotherapy to make room for the newly modified stem cells to settle and grow in the bone marrow. Following infusion back into the patient, the stem cells can hopefully re-establish normal haemoglobin production.

Although the clinical trials are at the early stages, the latest data raises real hopes for a potential cure for thalassaemia patients for whom current treatment options are sparse.

This marks a major milestone in the treatment of this debilitating disease.

How can I help my child with Thalassaemia?

The most important thing you can do as a parent to a child with beta thalassaemia is to create a good support system for them. This means investing time into finding and building a team of experts to provide the best healthcare possible for your child.

This will not only include doctors who specialise in blood disorders and treatments, but also may include specialists such as a trusted primary doctor, a dietitian and a psychologist to help both you and your child cope with the effects of the disease. You may also want to connect with other families who have a child with thalassaemia so that you and your child don’t feel alone.

Further Information:

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

UK Thalassaemia Society (UKTS)

Recent Posts

Start typing and press Enter to search