How thalassemia is diagnosed and treated

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I have been suffering from thalassemia major since birth. At the age of one year I began to receive blood transfusions every 15/18 days

Thalassemia is often picked up during pregnancy or shortly after birth following routine blood tests.

The only possible cure for thalassemia is a stem cell or bone marrow transplant but this is only an option for a small percentage of people with thalassemia .

In the past, severe forms of thalassemia were fatal but the outlook has improved in recent years and people with thalassemia are likely to live into their 50s, 60s and beyond. In most cases in countries where people have access to regular monitoring and treatment, thalassemia can be managed effectively. However, treatments such as blood transfusions and chelation therapy (medicines that remove excess iron from the blood) need to be repeated on a regular basis and this can have a major impact on normal life, particularly for children. In countries where access to best practice care is limited, the outcomes for people with thalassemia are much worse.

New treatment approaches currently under investigation have the potential to further improve the outlook for people with thalassemia . Rather than purely treating the symptoms of thalassemia , the aim is to treat the underlying cause of the condition.

+ How is thalassemia diagnosed?

Blood tests are used to diagnose thalassemia . These may include a complete blood count and/or a haemoglobin electrophoresis test or a genetic test.

In some countries, screening is offered to all pregnant women, or the condition may be picked up during routine blood tests after the baby is born.

If there is a family history of thalassemia , in some countries people may be offered genetic counselling to discuss the implications of having thalassemia , with the option of testing to see if the thalassemia gene is present.

A blood test can be used at any stage of life to diagnose thalassemia or to see if a person is a carrier.

+ How is thalassemia treated?

Mild cases of thalassemia may need no treatment at all.

Current treatments for more severe forms of thalassemia help to control the symptoms but do not treat the underlying condition or stop it from progressing. Treatment usually needs to be repeated on a regular basis and this can have a major impact on normal life.

The only possible cure for thalassemia is a stem cell or bone marrow transplant but this is only an option for a small percentage of patients.

+ Key treatment options

  • Blood transfusions to supply missing substances such as haemoglobin. These may be needed every few weeks and require regular hospital or outpatient visits.
  • Regular blood transfusions can lead to a build-up of iron in the blood (and some people with thalassemia have a natural tendency to store high levels of iron even without transfusions). This can lead to problems with the heart and liver, as well as blood sugar.
  • Chelation therapy is used to remove excess levels of iron from the body. It involves giving specific drugs which bind with the iron which is then excreted from the body in the urine or faeces. Several different chelating agents are available and these are given either as an infusion (via a needle in the arm or via a pump attached to the body), or as liquid or tablets. Each form has advantages and disadvantages and the most suitable choice varies from patient to patient.
  • Injections of erythroid maturation agent (EMA) every few weeks help red blood cells ‘mature’ (or develop) to reduce anaemia and the need for regular blood transfusions. The first agent in this new class of medicines for the treatment of anaemia was launched in late 2019 and approved for use in Europe in mid-2020.
  • In very severe cases, a stem cell or bone marrow transplant may be carried out but this is rare because of the severe risks involved and the difficulty of finding a suitable donor.
  • A number of new treatment approaches are currently being investigated. These include gene ‘silencing’ therapies which aim to temporarily block a specific gene’s message that would otherwise trigger an unwanted effect. In one case, the TMPRSS6 gene’s, which prevents the liver from producing a hormone called hepcidin that controls iron levels in the body. As this hormone increases, iron levels in the blood are expected to decrease, which will in turn allow more healthy red blood cells to be produced, thereby reducing anaemia.

+ Which healthcare professionals oversee the care of people with thalassemia ?

People with mild forms of thalassemia may require little or no treatment.

Those with more severe forms of the disease will have regular appointments with a haematologist (a specialist in diseases of the blood).

Patients who experience heart problems may need to see a cardiologist (specialist in heart disease) and those who experience liver problems may be referred to a hepatologist (specialist in diseases of the liver) or an endocrinologist (a specialist in hormone disorders).

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