The term “thalassaemia” refers to a group of blood diseases characterized by decreased or absent synthesis of one or more of the normal globin chains. The most clinically relevant types are α and β thalassaemias.

Based on their clinical severity and transfusion requirement, thalassaemia syndromes can be classified into transfusion-dependent thalassaemias (TDTs) and non-transfusion-dependent thalassaemias (NTDTs).

Transfusion-dependent thalassaemias (TDTs) – mostly Beta Thalassaemia Major, HbE/Beta thalassaemia or severe HbH disease.

Non-transfusion-dependent thalassaemias (NTDTs) – mostly Beta Thalassaemia Intermedia and moderate HbH disease.

Please note: Thalassaemia trait / minor does not fall under this patient group. Thalassaemia trait is usually asymptomatic, and these patients are under their own General Practitioner.

Main health conditions associated with thalassaemia:

People with thalassaemia often experience:

• Anaemia – severe tiredness, weakness, shortness of breath, pounding, fluttering or irregular heartbeats (palpitations) and pale skin caused by the lack of haemoglobin.
• Iron overload – caused by regular blood transfusions used to treat anaemia and can cause problems with the heart, liver and hormone levels if untreated.
• Some people may also have delayed growth, weak and fragile bones (osteoporosis), and reduced fertility.

Treatments:

Regular or top up transfusions:

People with a more severe type of thalassaemia will need regular transfusions to treat the anaemia.

People with a less severe type of thalassaemia might only need occasional top up transfusions if severely anaemic e.g. during pregnancy or in adolescence.

Blood transfusions are safe, but when given regularly they will cause iron to build up in the body, so regular monitoring with blood tests and/or MRI T2* scans are required. Iron overload requires treatment with medication called chelation therapy to remove the excess iron. This will be prescribed and monitored by the hospital.

In paediatrics, some children will have a port-a-cath insitu to facilitate regular blood transfusions. Parents/carers are taught to recognise the signs of port infection and advised to attend for medical review as a matter of urgency if they have any concerns.

Iron chelation:

There are three types of chelation therapies available, either used individually or in combination:

• Deferasirox (DFX)
• Desferrioxamine (DFO)
• Deferiprone (DFP)

The most common treatment option is Deferasirox which is given orally. If there is significant iron overload other treatments may be added. Desferrioxamine is given either subcutaneously or intravenously. All prescriptions for iron chelation will be undertaken by the hospital team, who will also undertake the necessary monitoring. If there are any problems related to this, please do contact our haemoglobinopathy team.

Stem cell or bone marrow transplants:

Stem cell or bone marrow transplants are the only curative treatment for thalassaemia but are only routinely offered if a fully matched full sibling (brother/sister) is available.

Other health issues often associated with thalassaemia:

Thalassaemia can also cause several other health problems that may need to be treated. Referrals for thalassaemia related health issues will be made directly from the thalassaemia outpatient clinic. This may include referrals to the endocrine, cardiac, ophthalmology and audiology teams.

For example:

• hormone medicine may be used to help trigger puberty in children with delayed puberty and treat low hormone levels
• vaccinations and antibiotics may be recommended to prevent and treat infections
• thyroid hormones may be used if there’s a problem with thyroid gland (hypothyroidism)
• medicines called bisphosphonates may be used to help strengthen bones
• gallstones may be treated with gallbladder removal surgery
• regular monitoring may be recommended to check for heart problems.

When to contact our Haemoglobinopathy team?

We recommend that, if thalassaemia patients present with any infection or worrying symptoms (including severe anaemia) please contact the haemoglobinopathy team for further advice. Please see contact details below.