Dr. Mirela Rangelova: A blood test can save you from giving birth to a child with thalassemia

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Dr. Mirela Rangelova: A blood test can save you from giving birth to a child with thalassemia
Dr. Mirela Rangelova: A blood test can save you from giving birth to a child with thalassemia

Dr. Rangelova, to whom is the campaign for free thalassemia gene carrier testing aimed?

- It is mainly aimed at young people who are yet to create families and become parents, to find out whether or not they have a risk for the generation of the genetic disease thalassemia. We have distributed a brochure, written in an accessible language, in all higher education institutions in Sofia. We have the opportunity to study 1000 people, this is our financial coverage. So far, we have studied 31 young people, four of whom are carriers of the thalassemic gene.

What is the point of a thalassemia gene carrier test?

- The carrier of the thalassemic gene is most often asymptomatic and people do not even suspect it. But when two people with the thalassemia gene produce offspring, there is a 25% chance that they will have a child with severe congenital hemolytic anemia. It should be understood that sick children are born to he althy parents who, however, are carriers of this gene. The National Specialized Hospital for the Treatment of Hematological Diseases is doing this campaign for the prevention of severe thalassemia, so that a child is not born with this extremely severe disease. When we find that a young person is a carrier of the thalassemia gene, then we will also test their partner, so that they are reassured that they do not have such a carrier.

What does the research consist of?

- This is a simple venous blood draw. It's painless. The sets have very thin needles and are hardly felt. We don't do genetic testing, we do blood tests, we do hemoglobin electrophoresis. We also have such cases where a family comes, both of them turn out to be carriers of the thalassemic gene, and the woman is already pregnant. Then we refer this at-risk couple to the National Genetics Laboratory for prenatal diagnosis, as long as the woman is in early pregnancy - between 11 and 17 weeks' gestation. She has a 25% chance of giving birth to a child with thalassemia major, a 25% chance that the child will be completely he althy, and a 50% chance that the child will be a he althy carrier like its parents. If the child is found to be sick, the couple decides whether or not to keep the pregnancy. The goal of our campaign is precisely this - to prevent the birth of a sick child.

What is thalassemia major and how is it treated?

- The disease is also called homozygous beta thalassemia or Mediterranean anemia or Kuley's anemia. It is due to a defect in the hemoglobin molecule. Poor quality red blood cells are produced with greatly shortened survival. It is a severe disease that requires lifelong treatment and represents a serious medico-social problem. Since the public is not aware of this problem, we are trying to inform it.

The treatment of patients with thalassemia major includes

regular blood transfusions

every two to four weeks and carrying out daily chelation therapy, which clears the excess accumulated iron in the body. There is a single treatment method that provides an opportunity for complete therapeutic success, overcoming the congenital defect of hematopoiesis - the transplantation of hematopoietic stem cells. But this is an opportunity with many limitations.

What damage does thalassemia cause to the body?

- The severe complications in these patients and the fatal outcome do not occur from the anemia itself, but from the excess accumulated iron in the heart, liver, endocrine glands and all vital organs. Excess iron is obtained from regular blood transfusions. In recent years in Bulgaria we have the most modern iron chelators and thanks to the therapy we have a much better quality of life for patients and we expect a normal survival rate. We have patients who have already entered their fifth decade of life.

What percentage is the carrier of the thalassemic gene in Bulgarians?

- About 2.5% of the population of Bulgaria are carriers of the thalassemic gene, which is estimated at 170,000 people. But there are regions where this carrier is more common, in places it even reaches 5% - Southern Bulgaria, the region of Sandanski, Blagoevgrad, Burgas. It is no coincidence that one of the names of thalassemia major is Mediterranean anemia. Because people living in the Mediterranean region suffered and died massively from malaria. The defect in the hemoglobin molecule arises as a natural immunity against malaria. In the defective blood cells, the malaria plasmodium cannot develop and parasitize. However, later, when people with the thalassemic gene begin to start families with each other and bear children, the severe form of thalassemia appears.

Most thalassemia occurs

except in the Mediterranean, in countries around the equator in Asia and Africa - this is the endemic belt.

Currently, we have 291 patients with thalassemia major and thalassemia intermedia, of which 110 are children under 18. If in recent years we had 1-2 newly diagnosed children with severe thalassemia, in 2014 we have four Bulgarians. This is disturbing. Therefore, the working group on thalassemia at the Bulgarian Society for Clinical and Transfusion Hematology and the organization of thalassemics in Bulgaria gathered to think about what to do for the prevention of this disease. We created a concept for screening two target groups. From 2015 we will focus on young women and pregnant women. For this, we will seek assistance from obstetricians and gynecologists to refer any young woman or pregnant woman with a hemoglobin below 115 units and a low MCV (mean erythrocyte volume) to a hematologist. If the hematologist suspects that the woman is a carrier of the thalassemic gene, he will refer her for hemoglobin electrophoresis. So far, in many cases, obstetricians and gynecologists find a woman with anemia, give her an iron supplement and do not refer her to a hematologist.

The second target group is 1-year-old children, because they all have a blood test. If the child's hemoglobin is below 110, he must be referred by the jeep to a hematologist. We will rely on the professional guilds of general practitioners and obstetricians for this. Only in this way can steps be taken to prevent thalassemia.

How much are these 291 thalassemia patients costing he althcare?

- Their treatment costs the state hundreds of thousands of BGN per year. I cannot give an exact amount, but just the chelation therapy of one patient per month costs between BGN 5,000 and 7,000. The other problem is the procurement of blood for these patients. On average, we transfuse two bags of blood every 20 days for those over 18 years old. This is a very large amount that is difficult to secure. It's not just about money. Unfortunately, our society does not have a positive attitude towards blood donation. People don't know that by donating blood, one person saves three lives. From all donated blood, platelet concentrate, plasma and erythrocyte concentrate are separated, which we transfuse to patients with thalassemia. Before the Christmas holidays, when the need for blood is particularly great, I am asking every he althy person between the ages of 18 and 65 to make a gesture of humanity and donate blood at the National Transfusion Hematology Center at 112 Bratya Miladinovi Street.

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