For this episode of Karger’s The Waiting Room Podcast, we spoke with Professor Antonio Piga about thalassemia, which is an inherited blood disorder, and one of the two main types called beta thalassemia in particular.

Professor Piga is Professor of Pediatrics at the University of Turin, Italy. Furthermore, he is the author of the recently published Fast Facts for Patients booklet “Beta Thalassemia”, which is freely available online.

Note: The statements and opinions contained in this podcast are solely those of the speaker.

Podcast Interview

To access further The Waiting Room Podcast episodes and/or subscribe to the podcast channel, visit The Waiting Room Podcast landing page.


Hello Antonio and welcome to the Waiting Room Podcast. First of all, what exactly is beta thalassemia?

It’s an hereditary anemia that is a form of anemia that is coming from the genes, from the DNA from the parents. That is to say that the child with the disease may be born only when both parents are a healthy carrier of this disease.


And what are the symptoms of beta thalassemia?

Well, the disease may be more or less severe. Normally, it’s a severe form. So, after a few months of life, a child that had a perfect pregnancy, perfect delivery, and perfect few – two, three, four – months of life, then slowly becomes to be anemic. And the symptoms of anemia are, it has to be a bit pale, but at that age is not to eat normally, not to sleep normally etc. So, the parents normally take the child to the doctor and there it is suspected of anemia and a blood test to check what is the reason for it and then the easy diagnosis.

So, the diagnosis of the severe anemia is easy. The diagnosis of a very mild form of the disease may be not so easy because it comes when a person is an adolescent or a young adult. We test them for other reasons. But this is just for the very mild forms.


What I was wondering, since there are two main types, what differentiates beta thalassemia from alpha thalassemia?

Yes, they are very similar, both for the healthy carrier and both for the affected person, because alpha and beta are simply the two different chains that form the hemoglobin. The protein we have to take the oxygen from the air and take to the body. So, the difference is from the medical, strictly from the medical point of view, there are a lot of differences, but this is boring details for us as a physician. Generally speaking, both are severe anemias; hereditary, obviously. And let’s say that alpha thalassemia is a bit milder than beta thalassemia. And it requires a slightly different treatment. But I will stop here talking about the differences.


That leads me to my next question. And since you already mentioned the diagnosis part, could you please explain how the screening for and the diagnosis of beta thalassemia looks like?

Yes. For the affected person, it’s easy. So, there is some symptom of anemia, a blood test. And the blood test revealed that the hemoglobin in the blood is lower than expected, a lot lower than expected, and that the red blood cells are different from normal. The trend in thalassemia is that the red blood cells are smaller, very small, and that the hemoglobin content is lower than normal. So, many, we say, red blood cell parameters in the basic blood test do have alarms.

And so, for the physician, it’s easy to orientate himself to say: “Oh, this should be or a thalassemia or a severe iron deficiency anemia”, and then to differentiate the two is very easy. To have a perfect diagnosis we do DNA testing. Today, there are specific DNA testing that are targeting exactly to the alpha/beta chains. And they can see genes, and they can see easily if a thalassemia is in or not. This is for the affected person. And the same is for the healthy carriers.


Now, you mentioned already iron deficiency. What other complication signs are there that patients with beta thalassemia frequently encounter?

Yeah, the patient with beta thalassemia has the effect of anemia. So, if the diagnosis is delayed or if, as happened even today in many countries in the world, it is not possible to give the basic treatment to a thalassemia, what happens is that there are symptoms of chronic anemia when the anemia is not compensated. They are so many and important. And for thalassemia there is something that is specific, that is not just to be pale and to have problems in the normal activities, physical activities etc., but also is a peculiar anemia where the bone marrow, that is where we make the blood, the interior part of the bones, the bone marrow tends to enlarge. And so the bones tend to enlarge.

Where the thalassemia is severe, there may be also bone alteration that may become important. So, also the physical aspect may be altered, but this is true where treatment is not there or is very poor for the patient. The other problem of this very severe genetic anemia is that there is the trend to iron overload. That is the opposite of iron deficiency, because wrongly the signal in the body of the affected person is to absorb a lot of iron from food and to try to make more and more red blood cells even wrong, but more and more red blood cells. So, there is an iron overload that in the long term is the most important problem.


I see. So, which treatment options are currently available for the treatment of beta thalassemia?

Yes, basically you treat a severe anemia with blood transfusion. That is, to have safe blood from a donor that is compatible, that is cross-checking, and you give this blood to the very severe anemic person and you temporarily, that is for two, four weeks, you compensate the anemia. So, you may have a normal value in the affected person, and so this is a very potent compensation, and this is also compensated in part also in the trend to have bone marrow and the bones enlargement, etc., etc.. So, you prevent a lot of the complications of the disease.

Obviously this is not the cure, this is just a compensation. So, in countries where blood transfusion is good, is safe and high-quality, the disease is well compensated. So we have today persons with very severe forms of beta thalassemia that are in their sixties, for example. And they are well, they do have a good quality of life even with a lot of treatment, but a good quality of life. The other key point of treatment is iron chelation, that is to take a drug every day to have the excess of iron removed.


Excellent. Might there also be cases where surgery is needed for treating beta thalassemia?

Yes and no. Yes in the sense that in the past, when the disease were was not well balanced with the transfusion, it happened that the spleen becomes very large and very, let’s say, hyperactive in that its function was giving problems, that is having the transfusion not working properly because the spleen was consuming, that is trapping and eliminating red blood cells even when they were young enough to work properly.

And so in these cases, in the past very often, today very rarely, where treatment is okay, we need to do a so-called, we say splenectomy, that is to have the spleen out. In good hands not such a difficult and dangerous surgery. But wherever it’s possible we try to prevent the surgery, not for the surgery per se but for the effect. Because, as generally is well known, it’s better to have everything we have by nature. So, without the spleen it is possible to live safe forever, but with some more risk for some special infection or for a trend to have thrombosis, that is the blood clotting in the veins.


Thank you for this explanation. Now, we were talking about current treatments. Are there maybe any new treatment modalities on the horizon or which are currently being tested in clinical trials?

Yes, a lot. This is a very exciting chapter today because in the past, differently from the past, where the patients and parents and the community were asking for treatment for this disease, that is a very important disease, but it’s considered rare, generally speaking. But if you go to many countries in the world, it’s not rare at all and it costs a lot to the community and to the society. So, in the past, no treatment for a genetic disease so severe, so no gene therapy, let’s say, in the past. Today, we have some gene therapy that has been approved from the main, let’s say, regulator for these like the FDA, the American one, or the EMA, that is the European one.

But there are still question marks on these; one is the long-term safety, because even today to go to the genes and modify it’s from the safety we got to the point, from the efficacy, sorry, but from the safety there is some question mark not to put some disorder that may give long-term problems from the treatment. That is the problem.

And there are new approaches to gene therapy that is not to use a viral vector or for inserting the right beta gene in the cells of the affected person, but to use other techniques that, if I say a name, CRISPR-Cas9, you say what a horrible term it is, but it’s the technical word that is at the moment the best approach to modify the genes of a person without putting so much a disorder. And getting the point that is to have the stem cell of the person corrected and ability given back to the patient, able to make the blood properly, that is: in the normal way.

I have to mention also another, a different treatment that is very new. It must be now approved in several countries. The name is again difficult because the name is luspatercept, the scientific name, that is a very sophisticated drug that is injected as a subcutaneous, very small injection by a syringe once every three weeks. So, very easy for the patient. And this drug is able in most of the patients to rise a bit the hemoglobin, that is to compensate in part the disease. It’s not a full cure, as may be potentially gene therapy, but it’s very interesting.


It sounds very promising. And that brings me to my last question: What is your advice for beta thalassemia patients on how to live with the condition and what should be paid attention to? For example, you mentioned physical activity earlier on and quality of life.

I have to give two different answers depending on the level of treatment. So, for the patient that has inadequate treatment because the country saw that it’s impossible to have perfect transfusion and iron chelation. The answer is to search any way to improve the treatment. And there are, these patients may have help from others because whether there is a problem like these hereditary, the community is ready to help. So, to search for help, but not just for the parents, but other people. There are so many associations of patients in any part of the world, and we have also one that collects them together. This is very useful to fight, to have better care.

The answer for the patient that has adequate treatment, so good treatment, is to think that, yes, it’s hard to do everything well and to adhere perfectly to the treatment. But the final result is to have the chance to have a really normal life with a normal brain, fully normal brain, and to have all the possibilities of the others. The attention in the daily life, there are many, but again are details that I can easily skip now.


Okay, now that sounds very promising, and that’s the end of our interview. Many thanks to you, Antonio, for taking the time and for joining us on the Waiting Room Podcast.

Related Posts

Platelets, a type of blood cell, are involved in the control of blood loss. In the review article “In vitro...
Immunohematology is the study of antigens on red blood cells and antibodies that are associated with blood transfusions. In the...
Primary immune thrombocytopenia is a type of autoimmune disorder. In the research article “The Role of Follicular Regulatory T Cells/Follicular...