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In humans, oxygen is transported through hemoglobin (Hb), which also gives the blood its red color. The main hemoglobin in adults consists of two alpha and two beta, four different globin chains and named as Hb A. Thalassemia (Mediterranean Anemia) is a genetic disease caused by the loss or disappearance of one or more globin chains. Since hemoglobin is produced incorrectly in this disease, red blood cells containing this hemoglobin are destroyed and anemia is formed. Anemia can occur in very severe forms, ranging from very mild laboratory changes to deaths in the womb.
Mediterranean anemia is studied in two main groups as alpha and beta thalassemia. The Mediterranean basin of the world is common in parts of the Middle East, India and Far East Asia. Thalassemia is seen in regions where malaria is common in the world because it protects human against malaria in thousands of years of human evolution. In our country, it is more common in Thrace and Mediterranean Region.
What are the symptoms and signs of Mediterranean Anemia?
Jaundice in the eyes,
There may be complaints of bloating in the abdomen.
Spleen and liver can grow in patients.
Changes in the face and head bones due to persistent anemia in their severe forms (protrusion in the forehead and cheekbones, etc.).
Growth retardation can be seen in heavy forms in children.
Diabetes, goiter and other hormonal disorders can be seen due to iron accumulation.
Heart failure, liver damage, and the corresponding feet, swelling of the abdomen can be seen.
Gallbladder stones are common because increased jaundice will increase.
How is the diagnosis of Mediterranean Anemia?
Diagnosis is made by blood count, peripheral smear, hemoglobin electrophoresis. Genetic tests can also be diagnosed, but it is not widely used routinely because of the difficulty in transport. Mediterranean anemia can be very confused with iron deficiency anemia due to the similarities of blood count and complaints. Iron deficiency anemia should be excluded especially in differential diagnosis.
Mediterranean Anemia Types:
Mediterranean Anemia has multiple subtypes, but the most important subtypes are alpha and beta thalassemia where alpha and beta chains are affected. Electrophoresis is not diagnostic in alpha thalassemia and the diagnosis is made by genetic or clinical findings.
The most common clinical forms of thalassemia;
Thalassemia Carrier: It is the most common patient group and these patients continue their life with mild anemia. They don’t need a blood transfusion. Children born to mother and father who are carriers of Mediterranean anemia may be at higher risk of developing severe anemia.
Thalassemia Intermedya: They do not need a blood transfusion at the beginning of life but they are anemic enough to require blood transfusions in certain periods of their lives.
Thalassemia Major: It is the most severe form of mediterranean anemia that needs blood transfusions from the first year of life.
How is Mediterranean Anemia treated?
There is no need for any treatment in patients with thalassemia if the patient does not have complaints and anemia is not deep. In patients without iron deficiency, it is important in this patient group that iron accumulation does not cause iron problems.
The undesirable effects of thalassemia occur due to chronic deep anemia and the iron accumulated in the body due to the blood given in the treatment of this anemia. Bone changes due to anemia, heart failure, the formation of blood outside the bone marrow (the size of the spleen) is problematic, while the iron given in the blood can accumulate in the organs, causing dysfunction in the glands that produce liver, heart and hormones. Therefore, the removal of iron from the body is of vital importance in patients undergoing routine blood transfusions. For this purpose, drugs that bind and bind iron in the body have been developed.
In order to prevent iron accumulation, it is important to monitor the iron accumulation in the body and to monitor the heart and hormone status. The gall bladder stone or spleen is very enlarged and a very frequent blood transfusion is required. In the selected patient group suitable for treatment, bone marrow transplantation is a solution that can completely cure the disease if there is also a donor.
How to prevent Mediterranean Anemia?
Thalassemia is a genetic disease and passed on to parents. Being a carrier of thalassemia is not an obstacle to marriage. If both parents are thalassemia carriers, children may be sick, carrier or normal. These couples can have a 25% probability of having a normal, 50% have a carrier like themselves and 25% have a child with thalassemia major. If one of the parents is a carrier and the other is healthy, the child will be a carrier of thalassemia of 50%. Blood and hemoglobin electrophoresis is used to screen new couples in our country. In the children of risky couples, genetic samples were taken from the prenatal placenta and amniotic fluid for diagnostic purposes.