Thalassemia is a disease that severely affects the patient’s bone marrow. Its most common symptom is anaemia, and in order to treat anaemia, blood transfusion is required. Watch the video to know more on Thalassemia, its symptoms and diagnosis, types and facts.

Dr. Devi Shetty
Dr. Sunil Bhat, Dr. Rajiv Dey

Understanding Thalassemia


What is thalassemia, what are its types and how common is it?

Thalassemia is a genetic blood disorder. The red blood cells carry the haemoglobin component of our blood, which is responsible to carry the oxygen in the body. In Thalassemia there is an abnormal formation of the haemoglobin. This causes babies to be born with abnormal RBCs, which have a shorter lifespan than that of a healthy person. Thus, they are dependent on blood transfusion every few weeks as their body cannot produce enough on its own. If the transfusion is not done, more than 90% of them die before two years of age. To sustain their lives and maintain their haemoglobin levels, blood transfusion is required every few weeks.

There are two types of Thalassemia- Alpha Thalassemia and Beta Thalassemia. It depends on the type of haemoglobin chain affected.

Beta thalassemia is more common in eastern India, and Bangladesh. In some parts of Southeast Asia and China, Alpha Thalassemia is also present. But the management of both the types of thalassemia is almost the same.

What are the sign and symptoms of thalassemia to detect it early and are there any tests to diagnose it?

Depending on the clinical manifestations, it is classified as - Thalassemia Major and Thalassemia Intermedia.

Thalassemia Major affected patients are those who are dependent on regular blood transfusion for their survival. These patients usually manifest the symptoms at a very young age, at around six months. These patients exhibit low levels of haemoglobin. Thus, they manifest as paler anaemia and recurrent infections.

Regular transfusion leads to iron overload in the patient’s body, as one unit of blood contains about 200mg of iron. Our daily absorption of iron is about 1mg. Thus, with one unit of blood transfusion, we transfer close to six months of iron storage in the recipient’s body.

Patients on regular transfusion acquire a tremendous amount of iron. This iron is accumulated in the liver causing hepatitis dysfunction/ hepatic failure. It also gets accumulated in the heart, causing Cardiomyopathy and heart failure. They are also accumulated in different glands of the body causing growth retardation, gradual hypothyroidism, diabetes, etc.

Patients suffering from Thalassemia Intermedia require intermittent blood transfusion during infections or surgeries. They present different thrombotic episodes like leg ulcers.

As compared to the intermedia type, patients of Thalassemia Major require more attention and care in their everyday life.

How to prevent thalassemia, how to cure thalassemia and can it be diagnosed before the Childs’ birth?

Italy and Greece are countries who have eradicated Thalassemia. It’s a genetic problem and it is the parents who are the carriers of this disease. It cannot be eradicated from the carrier state. In case the carriers are detected, it is earlier to eradicate the problem, which could be inherited by the child.

On an average, one in every ten persons in our country is a thalassemia carrier. However, it is not possible to eradicate the carrier state. But, the disease, in itself could be eradicated with pre-marital counselling and Thalassemia testing.

At the time of the 10th to 12th week of her pregnancy, the carrier mother can undergo a test to detect any signs of Thalassemia in the child. In case of Thalassemia Major, the child could be aborted. In case the child is in the carrier state or the normal state, the pregnancy could be continued; and fortunately, these tests are 99% reliable.

In case a child is born without prior testing and is detected of Thalassemia Major, the family can still plan for another baby, and it has 25% chances of having Thalassemia but 75% chances of being clear, which again could be tested during the pregnancy period itself.

The message here is that, know your carrier state, and get tested in the 10th to 12th week of your pregnancy.

Is it mandatory for a couple to check for Thalassemia before they get married?

A blood test called HBL electrophoresis helps in detecting the carrier or clear state of a person.

The price of the test varies from INR. 1000-2000, depending on the place of testing, which is very nominal. The test should be considered mandatory prior to marriage same as matching horoscopes, especially in the areas or communities where the prevalence of Thalassemia is very high. The test should be a part of a routine investigation which should be done.

My 3 year-old-daughter was detected with Thalassemia traits but was not given any treatment. What is the treatment, the associated risks, and things that could be done about it?

It is important to know if the patient has the traits of Thalassemia or is a carrier. A patient having Thalassemia has acquired two mutants from both the parents. If the patient has only one mutation in one gene and the other gene is normal, we call it a Thalassemia trait. Thalassemia traits are completely asymptomatic because the normal gene is hyperactive and produces enough haemoglobin for the body to sustain and keeps the person non anaemic. His/her haemoglobin is either normal or in the lower range or normal.

If a Thalassemia trait develops anaemia, there must be some other reason for anaemia other than the Thalassemia trait condition. The most common reason for anaemia in Thalassemia trait is iron deficiency. The mistake done by the physicians is that once the disease is detected as Thalassemia trait they suggest stopping the intake of iron. Thus, they become iron deficient. Thalassemia trait doesn’t require any treatment and the individual can lead a normal life anyway. However, it is good to be aware about your condition and avoid marrying another person with a Thalassemia trait.

There could be high chances of the child being a Thalassemia Major in that case. If you are diagnosed with anaemia, it is advised to find out the underlying cause and treat the same, instead of trying to treat Thalassemia trait.

What are the options for parents with thalassemia trait who are trying to have a baby?

As mentioned before, the individuals with the traits should undergo the Thalassemia test in the 10th to 12th week of pregnancy and if the child is a major, it could be aborted. If the unborn is clear or exhibits a trait, the parents can go ahead with the pregnancy.

What are the complications associated with Thalassemia, and what should be followed to look for these complications?

Thalassemia severely affects the patient’s bone marrow. Its most common symptom is anaemia, and in order to treat anaemia we transfuse blood. With transfusion there is iron overload that could lead to Cardiomyopathy and Hepatics Dysfunction, and in rare cases Hepatic Cernima. Also, the iron overload in the endocrine gland can lead to endocranopathy. Other complications of regular blood transfusion include the risk of acquiring the diseases present in the blood like HBSG, HIV infection, etc. A Thalassemia intermedia patient will have a thrombotic episode like leg ulcers.

There is no choice but to give transfusion to the Thalassemia Major patient. But before that, we need to take out the iron which is already stored in the body, because the most common cause of death of a Thalassemia Major patient is cardiac failure due to iron overload. Treatment is available in the form of injections as well as chewable tablets. Tablets are more popular amongst patients, being a more convenient way. The only inconvenience is that, it is costly and it has to be consumed throughout life. In case of Endochronopathy (disorder in the endocrine or hormone producing gland), the hormones have to be supplemented.

What are the medicines, the procedure and how effectively can a thalassemia patient be managed?

While giving blood transfusion certain guidelines have to be kept in mind.

Firstly, there is a deficiency of red cells while the other blood components are fine. Thus, only red cell transfusion has to be given to the patients. It is known as back cell transfusion.

Secondly, the haemoglobin or blood levels given to these patients should be as normal as possible because the children have to grow. Try to keep it between 9-10gm/dl. If the haemoglobin level is low, in the given time, their spleen and liver become big and bones show deformation. With time, patients need more blood to maintain their haemoglobin level.

Another thing to be considered is that while giving blood transfusion to the patient, white blood cells should not be given. White blood cells mediate allergic reactions. The patients develop sensitization, i.e., exposure to a lot of variety of blood types from different donors. Therefore, the white blood cells should be removed before transfusion using a lucoside filter or white cell filter. The patient should ask the blood bank to do the white blood filtration at their level.

Fourthly, blood can be a medium for infections, especially blood borne infections like Hepatitis A, Hepatitis B, Hepatitis C, HIV, etc. Thus, it is important to make sure that the blood is tested for these infections.

The patients should be monitored for growth, side effects of iron overload and for sexual growth when they are around 12-13 years of age, which is a crucial time to keep watch on their hormonal and endocrine levels.

Is there a cure for thalassemia and is it possible to get rid of it completely?

Only possible cure to Thalassemia at this time is bone marrow transplantation. Bone marrow transplant is a solution to most of genetic diseases like Thalassemia, Sickle Cell Anaemia, Cancer, etc.

However, finding a proper match is difficult. The child having a transplant should ideally be young and without any other health problems. A sibling has very high chances to be a match for the patient. About 90-95% transplant cases have successfully cured Thalassemia.

How much does a bone marrow transplantation treatment cost?

For a bone marrow transplant the patients has to be admitted in the hospital for 5-6 weeks. Regular medication and blood transfusion is a part of the treatment, which costs about.10 to 11 lakh rupees.

There is a program for those who cannot afford the treatment; patients can avail the treatment for 5-6 lakhs. It is sponsored by Lakshmi Machines, Coimbatore.

Are there any Vitamins or supplements that could be taken as a treatment for Thalassemia or is surgery the only option? What kind of diet should be considered?

Folic acid is required to produce DNA. In Thalassemia patients, the bone marrow produces 9-10 times its normal capacity of red cells. They are produced and destroyed. Thus, there is more than normal DNA production in the body. Therefore, Folic Acid is essentially required by the patient in order to support DNA production. In case of Folic Acid deficiency, the patient could develop Folic Acid deficiency related anaemia in addition to Thalassemia. Hence, the patient is advised to take Folic Acid supplements on a regular basis.

Along with that, Vitamin C supplements are also suggested along with chelating agents, in order to draw away excessive iron from the body.

Normally 1/3rd of the blood volume is stored in the spleen. If a patient has an enlarged spleen, an enormous amount of blood along with other components, like platelets, are stored in the spleen. If there is a feature of Hyper Spleenism, i.e., anaemia along with low WBC count and low Platelet count, it is an indication of splenectomy (removal of spleen). If the blood transfusion level is too high, say more than 200 ml per year, there has to be a cut or a break; because it is a sign that the spleen in engulfing a lot of blood.

Post splenectomy the blood transfusion level goes down. Patients having two transfusions every month need only one transfusion in 2-3 months. However, it is not a sustainable path to take. After a couple of years the patient falls back to the same routine. Splenectomy is required in these conditions, but it can’t cure Thalassemia, and the benefits are not long lasting.

Is umbilical cord blood transfusion a cure for a thalassemia patient?

Bone marrow transfusion could cure Thalassemia. When transplant started for the first time, blood forming stem cells were taken from the bone marrow. In the last 10-15 years, we have also known that these blood forming stem cells can also be taken from two other sources. One of them is the umbilical cord blood transfusion and the other is from the veins. It is a 3-4 hour procedure.

So yes, it can be used in the stem cell process, but a few things have to be kept in mind about umbilical cord blood transplant.

The amount of blood cells in UC blood is limited. It may be sufficient for a child of a certain weight, but may not be sufficient for an older or heavier patient.

In case of cancers, umbilical cord blood transplant does not require a perfect match. in Thalassemia we need a near perfect match, otherwise the rejection rates are high.

I am a volunteer of Swadesh, an NGO working for children with long-term illnesses, including thalassemia. Is there a complete cure for the disease and what are the results of the treatment?

The cure is bone marrow transplant. The cure could be 90-95% if the match is perfect and the patient is in a good shape.

My 13 year old daughter has E Beta Thalassemia also called Thalassemia Intermedia. What does it mean and is this a problem for her?

E beta Thalassemia is a type of Thalassemia where one cell contains thalassemia mutation and the other cell contains an e mutation, which is a special type of haemoglobin. When this E and Beta match, they behave as Thalassemia. E haemoglobin is unstable haemoglobin, and they are synthesized in a lesser quantity as compared to the normal haemoglobin. So, eventually they produce less amount of haemoglobin. When combined with beta mutation, they produce E beta which is Thalassemia Intermedia.

There is no concrete theory on why the E beta patients behave differently. E beta Thalassemia should be followed by a haematologist as their iron level status should be checked every six months.

Thalassemia Intermedia exhibits lower levels of ferritin, which is a calculator of iron storage. Thus, the patient eventually develops complications of iron overload. On the other hand, in Thalassemia Major, the ferritin levels should be very high for them to develop those complications.

E beta Thalassemia may be found in various types of patients. In some cases, regular treatment is required, while in others, blood transfusion is seldom required.

Is there any role for gene therapy to cure thalassemia?

Gene therapy has already taken strides in curing a lot of diseases and a lot of progress has been made in combined immune deficiencies as well. A lot of work is already going on in this field. The problem coming up is that the gene is too big to be incorporated in the patient’s defective cells.

Gene therapy is not yet an option for treatment of Thalassemia, but we hope that in the next few years we should see it as a successful treatment option for the disease.