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World Thalassemia Day

World Thalassemia Day



What is World Thalassemia Day?

May 8 World Thalassemia Day, World Thalassemia Federation has been raising awareness with different activities for 23 years in the countries that are its members every year.

The World Thalassemia Federation is a non-governmental organization founded in 1987, with 98 associations or foundation members in 60 countries.

Awareness studies have been carried out in our country since 2003.

What is thalassemia?

Thalassemia is one of the world's major public health problems. It is an inherited blood disease that can be prevented although it is expensive to treat.

In healthy individuals, the hemoglobin molecule, which carries oxygen in the blood and gives the blood its red color, consists of 2 alpha and 2 beta chains. If alpha cannot be made, it is called alpha-thalassemia, if beta cannot be made, beta-thalassemia, and disorders of both chains are called abnormal hemoglobin. Molecularly, there are three facial types of beta thalassemia, facial type of alpha thalassemia, and 1850 variant types of abnormal hemoglobins. The most common of these are the Arabic variants of Hb S, D, E, C, and O.

What is the Thalassemia Clinic like?

When we look at it clinically, it is basically divided into three types.

1. Thalassemia carrier: These individuals are completely healthy. If both parents are carriers of thalassemia, they can cause thalassemia disease with the thalassemia gene they pass on to their children.

When two carriers get married, their children will be 25% likely to be sick, 25% likely to be healthy, and 50% likely to be carriers. When a carrier marries a healthy person, their children will not be sick, 50% probability will be carrier, 50% probability will be healthy.

Thalassemia carriers do not require any treatment, they can take Zinc and Folic acid supplements when they have weakness from time to time.

These people are mostly confused with Iron Deficiency Anemia and receive unnecessary long-term iron therapy. For this reason, people whose anemia does not improve despite two months of iron treatment should definitely have a thalassemia genetic test.

2. Thalassemia Intermedia: It is the mild form of the disease that is not completely healthy like carriers, the symptoms of the disease usually start at advanced ages, and the blood requirements are less. Thalassemia intermedia is a very heterogeneous group clinically and laboratory. While the severe forms are similar to thalassemia major, they occasionally take transfusions and iron-scavenging drugs, while the mild forms are similar to carriers and live their lives without any transfusion.

The definitive diagnosis of these patients is made by alpha and beta gene analysis tests.

3. Thalassemia Major: It is also known as Mediterranean anemia. It is a very serious blood disease that begins in early childhood. These children cannot make enough hemoglobin for themselves. Due to faulty genes inherited from the parents, the bone marrow is like a factory that works hard but constantly produces defective red blood cells. The hard work of the bone marrow causes shape changes in the face and head of the patient.

The first symptoms in the child usually manifest as a severe, progressive hemolytic anemia in the first 6 months. These children need blood transfusions every 3-4 weeks on average throughout life. While erythrocyte transfusions performed to correct anemia prolong the life of the child, they cause iron accumulation in the body and the functions of various organs are impaired. In order to prevent iron accumulation, they usually have to use iron release drugs around the age of 2 years.

In recent years, with the development of methods such as MRI T2* to measure iron accumulation, which will not cause problems for the patient, it has become easier to measure iron in the Heart and Liver. In addition, the problem of iron accumulation has been largely resolved with the introduction of iron-scavenging oral tablets.

Is there a definitive treatment for my thalassemia?

Definitive treatment of thalassemia is possible with stem cell transplantation and gene transplantation.

In the last twenty years, patients with HLA tissue type, that is, suitable donors, have been treated with stem cell transplantation. It is performed in many centers in our country.

Gene transplantation is the treatment of the last years and the future. It is a method performed by correcting the defect in the cells of patients who do not have a donor.

It cannot be done in our country yet. Studies on this subject are ongoing.

Can thalassemia be prevented?

Although thalassemia patients lead a near normal life with regular treatment and follow-up, it is a difficult and expensive disease. On the other hand, Thalassemia is a preventable disease with community education, premarital screening and prenatal diagnostic tests.

This is done in five stages.

  1. Community Education
  2. Scanning of carriers
  3. Giving Genetic Counseling to Carriers
  4. Prenatal diagnosis methods in pregnancy
  5. The method of having a healthy baby with the IVF method by removing the genes before pregnancy

How is the situation in the world?

According to the data of the World Health Organization (WHO), 60% of 229 countries in the world have thalassemia problems. There are 266 million carriers in the world, despite the precautions, the birth of new patients cannot be prevented, especially in African and Far East countries where the population and poverty are high.

Last Update: 2024-01-19 21:00:11