Thalassemia (Mediterranean Anemia) Test

Do You Know That There Are 1250 Different Types Of Thalassemia?

Thalassemia disease, popularly known as Mediterranean mother, is an important public health problem in the world and in our country. According to the latest data of the world health organization, thalassemia is common in 60% of 229 countries in the world. Its prevalence is 2.1% in our country, while it is over 10% in our region. Although thalassemia is an expensive and difficult disease to treat, it is an easy and inexpensive disease to prevent.

Clinical Level Types

The clinical type of thalassemia is divided into carrier and patient. Carriage is an hereditary condition, it is passed down from generation to generation which also known as Thalassemia minor. These individuals, defined as carriers, are completely healthy. If both parents are carriers of thalassemia, the gene for thalassemia they pass on to children can cause the disease. When two carriers get married, a 25% probability of children to be carriers with a 25% chance of being healthy and a 50% chance of being a carrier these possibilities are valid for every pregnancy When a carrier marries a healthy person, their children will not get sick. 50% probability the carrier will be 50% healthy.

Patients are divided into mild, moderate and severe. Patients with mild to moderate prognosis are called Thalassemia Intermedia. In the moderate type of disease, the diagnosis of the disease is made after the age of two, they sometimes need a blood transfusion. Diseases diagnosed after the age of ten have a mild course, they do not need blood. They can lead their lives normally.

The severe type of the disease is defined as Thalassemia Major. They are usually diagnosed between the ages of three months and two years, and they have to receive regular blood transfusions. Sick children become ill when they receive both genes from the surrogate mother and surrogate father that carry mutations. Bone marrow is like a factory that works hard but constantly produces faulty red blood cells with short-lived oxygen and iron binding problems Symptoms of anemia in the child begin immediately after birth. These children cannot make enough hemoglobin for themselves. Growth retardation due to anemia, pallor, weakness, frequent fever, liver spleen enlargement and gradually heart failure symptoms develop.

Another type of patients is Abnormal Hemoglobins. While some of them do not show any hairinic findings, there are abnormal hemoglobins presenting with an important clinical picture such as Hb-S, Hb-D, Hb-C, Hb-E, Hb-O-ARAP.

Types of thalassemia at the molecular level

Hemoglobin, which is the reason red color of blood, and is found in red blood cells that carry oxygen to tissues, consists of two alpha and two beta chains. Therefore, at the molecular level (DNA) they are divided into alpha-thalassemia, beta thalassemia and abnormal hemoglobins.

Thalassemia are caused by mutations in hemoglobin genes. These mutations. About one hundred different types in the alpha globin genes, about two hundred different types in the beta globin gene, and about 950 different types in abnormal hemoglobins have been identified.

The alpha chain consists of four genes, there are about a hundred different types of mutations. If one of the alpha gene is absent, people are not clinically aware, there is no problem. If there are no two genes, there is mild anemia, again there is no problem. If there are no three genes, there is a situation we call hemoglobin-H disease, the person has mild anemia as well as spleen size, blood transfusion may be required from time to time. f there are no four genes, the child cannot develop in the womb and is still born

Beta chain consists of two genes. There are about two hundred different types of mutations. One of the genes If it cannot be done, the person is considered to be carrier, if both cannot be done, the person is considered to be sick. According to the gene, the disease progresses with a mild, moderate and severe clinical picture. Carriers and patients are classified accordingly.

Abnormal hemoglobins are usually caused by a change in alpha and beta chains. Up to nine hundred and fifty types are known. The most important of these is HbS, known as sickle cell anemia. The other most important abnormal hemoglobins are Hb D, Hb C, Hb E, Hb O-Arab. By DNA sequence analysis Although new ones every year have scientific value, they do not cause clinical problems.

In our center, we offer different services for patients whose thalassemia problem cannot be solved. Examples come from hospitals and universities. DNA studies we have done in the last year Hb Fontaiebleau, Hb G-Waimanalo, which are the first defined abnormal hemoglobins in our country. Hb Hb Kansas and Hb Crete were found. In addition, it is a first described in the world literature The mutation (-77 (G >A) was found.

As a result, the life course of thalassemia carriers and patients is necessarily done by DNA testing. Should be determined, all members of the family should be genetically DNA tested, and in thalassemia carriers DNA analysis must be done. People known as carriers for years also have silent mutations by finding, the disease picture can be revealed.

In addition, even if one of the married couples is a carrier and the other is normal, the possibility of being a silent carrier in the spouse is possibility so, both of them need to have DNA tests.