Thalassemia is a disease known colloquially as Mediterranean anemia. The cost of treatment of genetically inherited thalassemia is high, but the ways of prevention are cheap and easy. There are 1.4 million disease carriers and around 4500 thalassemia patients in our country.
What is Thalassemia (Mediterranean Anemia)?
Hemoglobin is a protein chain complex found in the structure of red spheres that carries oxygen from respiratory organs to tissues and residual carbon dioxide from tissues to respiratory organs.
Diseases that occur as a result of the reduction or change in the structure of the protein chains that make up this complex are called thalassemia (Mediterranean anemia). They are called by the name of the broken protein chain. Alpha and beta thalassemia are most common. Beta thalassemia is an important public health problem in Mediterranean countries, including our country. The disease was described in children in 1925.
Thalassemia is an inherited disease!
Thalassemia is a preventable inherited blood disorder. The cost of treatment of the disease is high and wearisome. Prevention is cheap and easy.
There are approximately 269 million carriers of the disease in the world and it is thought that 365 thousand sick children are born every year. In our country, beta thalassemia carrier rate is 2%. There are 1.4 million disease carriers and around 4500 thalassemia patients.
The disease is carried by a recessive gene, regardless of gender. If the parents are carriers, there is a 50% chance that the children will be carriers – 25% healthy – 25% sick.
What are the types of thalassemia?
There are three types of the disease: thalassemia minor, thalassemia major and thalassemia intermedia. These types are related to the severity of the genetic deterioration in the disease, and there are serious differences in the disease clinic.
Cases of thalassemia minor are healthy people with only mild anemia. In cases of thalassemia major, there are serious health problems such as deep anemia, jaundice, growth retardation, spleen and liver enlargement, heart failure, skeletal deformities, darkening of the skin, and require serious treatment as of childhood.
Thalassemia intermedia are intermediate cases that receive partial support.
Thalassemia minor is the most common type of disease. Treatment of thalassemia major cases continues for life and the only curative treatment is bone marrow transplantation. The success rate is between 58 – 91%. Genetically compatible sibling, mother, father or cord blood can be used as stem cell source.
How to prevent thalassemia?
The thalassemia control program aims to screen the couples to be married for thalassemia carriers and to identify the couples that both are carriers. Couples with a family history or anemia before marriage should be examined in detail.
Married carrier couples should be informed and followed up with genetic counseling and prenatal (early diagnosis in the womb) recommendations when they want to have a child.
Our wish is to reduce the frequency of thalassemia major and intermedia with awareness in our society.
