Thalassaemia (Mediterranean anaemia)
Thalassaemia is not one disease but a whole group of inherited conditions in which the body builds haemoglobin wrongly.
On this page
- This is not iron deficiency, and iron is not what is needed
- Being a carrier: the minor form
- The severe forms: what happens to the body
- Transfusions and the main problem: iron overload
- Infections, the spleen and a blood count when there is fever
- What cures it, and what is emerging
- If you are planning children
- When to seek help urgently
- Online consultation
Medicines commonly prescribed for Thalassaemia (Mediterranean anaemia)
For informational purposes only. Always consult a doctor before using any medicine.
Dosage form: ORAL/RECTAL SOLUTION/SUSPENSION, 379.5-474.5 g Calcium Polystyrene Sulfonate/500 mgActive substance: polystyrene sulfonateManufacturer: Fresenius Medical Care Nephrologica Deutschland GmbhPrescription requiredDosage form: ORAL SOLUTION/SUSPENSION, 99.75 G OF CALCIUM POLISTYRENE SULFONATE PER 100Active substance: polystyrene sulfonateManufacturer: Laboratorios Rubio S.A.Prescription requiredDosage form: ORAL SOLUTION/SUSPENSION, 99.75G/100GActive substance: polystyrene sulfonateManufacturer: Laboratorios Rubio S.A.Prescription required
Thalassaemia is not one disease but a whole group of inherited conditions in which the body builds haemoglobin wrongly. Haemoglobin is the protein inside red cells that carries oxygen; it is assembled from several protein chains, and if the production of one of them fails, the red cells come out small, pale and short-lived. That is where the names come from: alpha thalassaemia or beta thalassaemia, after the chain that is missing. The range of what it does is enormous, from a carrier with no complaints at all to a severe illness needing blood transfusions from the first months of life. Thalassaemia is commonest where malaria was present for centuries, but movements of people mean it can now be found anywhere.
This is not iron deficiency, and iron is not what is needed
This is the place to start, because the mistake is made over and over. A full blood count in someone with thalassaemia shows a low haemoglobin and small red cells. Anaemia from lack of iron, the commonest anaemia in the world, looks exactly the same. And so people are treated for years with iron preparations that do not work, because they have plenty of iron: what is broken is the assembly of haemoglobin itself.
Telling the two apart is not hard once you think of it. When iron is short, the body's stores are exhausted and that shows in the ferritin and the other markers of iron metabolism; in thalassaemia those stores are normal or high. The question is settled by studying the haemoglobin itself and, if necessary, by genetic testing.
Taking iron for thalassaemia without a proven deficiency is not merely useless: it is harmful. In this condition the body already absorbs iron from food more avidly than it should, and with regular transfusions it takes in more inside donor red cells. There is nowhere for the surplus to go: it is deposited in the heart, the liver and the endocrine glands and damages them. So when an anaemia does not respond to iron, the right step is not to raise the dose or switch product but to check whether it is the anaemia you thought it was. Someone with thalassaemia can of course also have genuine iron deficiency, from heavy periods for instance, but then it is confirmed on blood tests and treated under medical supervision.
Being a carrier: the minor form
The commonest situation of all is carrying the condition, also called the minor form or thalassaemia trait. It means inheriting the altered gene from one parent only.
A carrier is essentially healthy. The haemoglobin may be a little low and the red cells consistently small, but wellbeing is usually unaffected and the finding turns up by chance, in a pre-operative blood test or during pregnancy. Being a carrier does not turn into a severe form, does not need treatment and does not shorten life.
It matters for two reasons. The first is the iron trap: a carrier is the easiest person in the world to treat for years for a deficiency that does not exist. The second is family planning: if both prospective parents are carriers, a child may receive the altered gene from both and be born with a severe form. It is worth knowing where you stand in advance rather than finding out on the labour ward.
The severe forms: what happens to the body
In the severe forms, above all beta thalassaemia major, the baby is born looking well and the first signs appear towards the end of the first six months of life, when fetal haemoglobin should be giving way to the adult kind.
- Marked pallor, listlessness, poor appetite, slow weight gain.
- Yellowing of the skin and eyes: short-lived red cells break down quickly.
- An enlarged liver and spleen, with a distended tummy.
- Poor growth and late puberty.
- Changes in the bones of the face and skull: the marrow expands trying to make more red cells and pushes the bone out from within.
- Fragile bones that fracture easily.
- Gallstones, a common consequence of red cells constantly breaking down.
Between the full health of a carrier and the severe form lie intermediate variants. Someone with one of those lives without regular transfusions but tolerates exertion badly, and may suddenly need support during a pregnancy, an infection or an operation. The alpha thalassaemias are more complicated, because four genes look after that chain and the severity depends on how many are affected.
Transfusions and the main problem: iron overload
The mainstay of treatment for the severe forms is regular red cell transfusion, usually about once a month. It is not simply about lifting the tiredness: by keeping the haemoglobin normal it stops the marrow from expanding and lets a child grow properly. Transfusions must not be skipped.
But they come at an unavoidable price. Every unit of donor red cells carries iron, and the body has almost no way of getting rid of it: within a few years grams have accumulated. It is iron overload, rather than the anaemia itself, that decides the fate of a person with thalassaemia.
- Heart: rhythm disturbances, weakening of the heart muscle, heart failure.
- Liver: fibrosis and cirrhosis.
- Pancreas: diabetes.
- Pituitary and gonads: delayed puberty, infertility.
- Thyroid and parathyroid glands: reduced function.
Against this work the chelators, medicines that bind iron and remove it in the urine and stool. Some are given under the skin as long overnight infusions, others are taken by mouth as tablets or dissolved. Chelators only work if they are taken continuously. Their worst enemy is not side effects but weariness with the routine: missed months cannot be made up, and iron goes on depositing in the meantime. Iron is tracked with ferritin and with magnetic resonance imaging of the heart and liver, which shows how much has built up inside the organs themselves.
Infections, the spleen and a blood count when there is fever
Thalassaemia leaves a person vulnerable to infection, and this deserves particular attention.
An enlarged spleen destroys red cells all the harder and drives transfusions ever closer together, so sometimes it is removed. The operation improves the blood count but deprives the body of an important filter. Without a spleen, capsulated bacteria are handled far less well, and an infection that looks ordinary can become life-threatening within hours. That is why vaccination against pneumococcus, meningococcus and Haemophilus infection is arranged beforehand, influenza vaccination is given every year, and some people are prescribed preventive antibiotics. Any high temperature in a person whose spleen has been removed means contacting a doctor immediately rather than watching until morning.
The second reason not to ignore a fever is the chelators themselves: some of them can cause a sharp fall in the protective white cells of the blood. The rule is simple: if a temperature comes up during that treatment, contact your doctor and have a full blood count the same day. There is one more reason to keep vaccinations current: transfusions and the handling of vascular access make protection against hepatitis B important.
What cures it, and what is emerging
The one long-established method that can genuinely cure thalassaemia is a transplant of bone marrow or blood stem cells from a suitable donor. The healthy cells begin producing normal red cells and the need for transfusions disappears.
It is a hard procedure and not right for everyone. The best results come in children, while the organs are not yet damaged by iron, and with a fully matched donor, most often a brother or sister. The main risk is a reaction of the transplanted cells against the body receiving them. The decision is taken by weighing that risk against a lifetime of transfusions.
Recent years have brought something else: gene therapy, in which a patient's own cells are modified outside the body and returned, and medicines that improve red cell maturation and allow transfusions to be spaced out. For now this treatment is available in a limited number of centres and does not suit every form, but the direction has changed: the conversation is no longer only about supporting people, but also about freeing them.
If you are planning children
Thalassaemia is passed on by inheritance and in no other way: you cannot catch it, you cannot acquire it through diet or lifestyle, and the parents are not to blame for anything.
A severe form arises when a child receives the altered gene from both parents. If both are beta thalassaemia carriers, then in each pregnancy there is roughly a one in four chance the child will be born with the severe form, two in four that the child will be a carrier like the parents, and one in four that nothing will be inherited. These proportions are not "used up": every pregnancy counts afresh.
From that follow some practical steps, the same in any country, even though timings and the way testing is organised differ from place to place.
- Find out where you stand before pregnancy, particularly if you have relatives with thalassaemia or your family comes from a region where it is common.
- If you are confirmed as a carrier, have your partner tested. Both people need the test; nothing can be concluded from one alone.
- If both are carriers, see a genetics service: they will explain the probabilities and the options, including testing during pregnancy and testing embryos as part of in vitro fertilisation.
- If the pregnancy has already begun, it is not too late to be tested now, and the earlier it happens the more time there is for unhurried decisions.
Women with thalassaemia can carry a pregnancy and give birth, but it should be planned with the care team: beforehand the heart and liver are assessed, the treatment is reviewed, and the monitoring arrangements are agreed in advance.
When to seek help urgently
Thalassaemia is managed over years, and in that rhythm it is easy to miss the moment when things change quickly. These are the signs that call for help the same day, and some of them right now.
- A high temperature, especially if the spleen has been removed or you are taking chelators: immediately.
- Rapidly increasing pallor, breathlessness at rest, fainting or blacking out on standing.
- Chest pain, a sense of missed or racing heartbeats, swelling of the legs: this may be the heart.
- Severe pain under the right ribs or in the upper abdomen, particularly with jaundice and fever.
- Sudden sharp pain under the left ribs, all the more after a blow or a fall, when the spleen is enlarged.
- An unusually severe headache, confusion, weakness in the limbs.
- Bleeding gums, bruises for no reason, blood in the urine or stool.
With loss of consciousness, severe breathlessness or bad chest or abdominal pain, call an ambulance: in Spain, Italy, Portugal, Poland and Ukraine the single European number 112 works. And always tell any doctor, even before a minor procedure, that you have thalassaemia and what medicines you take.
Online consultation
With thalassaemia most questions come up between visits to the specialist centre, and they do not need an examination. An online appointment suits that well.
During the consultation the doctor will go through the blood test in which small red cells were found, explain whether thalassaemia is worth considering or the cause lies elsewhere, and which investigations will settle it. They can help you read a ferritin result or a scan report, suggest how to organise chelator treatment so that it does not lapse, and help you plan testing for your partner before a pregnancy.
What an online appointment does not replace: the transfusions themselves, the scans, follow-up at a specialist centre and, for the acute problems in the previous section, calling an ambulance.
This material is for information only and does not replace medical advice.
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