Male1: Doctor, sometimes babies are born and they get that newborn screening, something wrong with blood and they think they have some kind of I think called a hemoglobin trait or something, what is that all about?
Male2: Well, actually we live in a multiculture society. This is a country of immigrants and with their culture, they bring their genes and there is a condition which is actually fairly common around the world, which is called Thalassemia. This is a genetic condition. It is abnormality in the protein and the gene that makes hemoglobin the main molecule for oxygen in the blood. Now, we have to make it an immediate and important distinction when we talk about genetic disorders. A lot of people, when you say genetic disorders think that they have a dreadful disease. Most of us carry what we are called traits, meaning that only half of our genetic--Thalassemia can be detected in the fetus after conception, and that would then give an opportunity to the parents if they so choose to make a decision whether or not that pregnancy will be carried to term in the end or not, but for the child who has a Thalassemia trait, the main issue as a child is to know that that child does not have iron deficiency because that is the common confusion that occurs, and once they know that they have the Thalassemia trait, they also will know later on if their partner has this condition, then they would have to--we would have some concern about their protein. This should not be a big concern, but one of the things that I tell to all of the mothers who come to me when this comes about is that, their one or two year old child who today, we know has parents with the Thalassemia trait, ten years down the line or 20 years down the line, when their time comes to marry, they know how many other conditions that will exist that we will know about from the genetic standpoint, so this is perhaps just one of them and that generally is of concern.
Male1: How is Thalassemia treated today?
Male2: Well, as I have said, Thalassemia trait per se does not require treatment.
Male1: I am not talking about the actual disease?
Male2: If patients have Thalassemia Minor, and here I have to digress for the second biggest one, we talk about Thalassemia, we really have to be precise. There are two of them that are generally we had talked about. One is the so-called Beta Thalassemia, which is also known as Mediterranean Anemia because it affects people from all over the Mediterranean Basin i.e. North Africa, Italy, Greece, the Middle East, but that genotype also extends into population further East, meaning Pakistan, Bangladesh, India and with some variation into China, with what used to be in China. So that is Thalassemia Beta and that is actually when two individuals with traits marry and have children, each pregnancy has a 25% risk of having a child with Thalassemia Major. That is actually a serious illness and it is an illness that if gone untreated, as in the old times, essentially make this individual die within the first ten years of life. Nowadays, we treat them with transfusion and with transfusion, their life expectancy has grown substantially. The problem that occurs with transfusion is the fact that with the blood, we also give excess iron, and that high iron over time builds up in the body and it becomes a significant poison that poisons the endocrine system, the liver and more importantly the heart.
Male1: Is there a way of getting that iron out of the blood?
Male2 : Yes, as a matter of fact, for a long time, we only had one drug which is called EXJADE needed to be given under the skin essentially everyday to prevent this problem. Just recently, a second drug that is an oral drug that gets rid of the iron in the body has just been approved here in the United States and most if not all of our transfusion patients are now on it, and at least the initial impression that we have has been out for about a year in an approved fashion is that it is very effective and patients seem to tolerate and take it.
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