Signs of Thalassemia (Mediterranean anemia)

Description

An inherited blood disorder that causes low red blood cells (anemia). Hemoglobin is a substance in the red blood cells that carries oxygen and consists of two proteins alpha globulin and beta globulin. Alpha thalassemia occurs when the defect is in the alpha globulin and beta thalassemia has the beta globulin defect. These defects cause the premature destruction of the red blood cells leading to anemia. Thalassemia is inherited and alpha thalassemia is seen most often in people of southeast Asia, the Middle East, China, and African descent. While beta thalassemia is more frequent in people from the Mediterranean. There are two further classifications: major and minor. Major is more serious and occurs when a patient inherits a thalassemia gene from each parent. Minor is less severe, many times not needing treatment, and occurs when only one gene is inherited. Complications of thalassemia major include: bone deformities, enlarged spleen, stunted growth, iron overload, and heart failure.

Symptoms

Symptoms vary depending on if the patient has the major or minor version, and patients with minor thalassemia may have very few symptoms. Symptoms include: fatigue, shortness of breath, pale skin, weakness, yellow coloration of skin (jaundice), facial deformities, slow growth,

Tests

A history and physical exam will be done. A CBC (complete blood cell count) can detect the low red blood cells and an abnormal appearance to the red blood cells. A hemoglobin electrophoreiss can detect the abnormal hemoglobin. A DNA analysis can identify the abnormal gene causing thalassemia.

Treatment

Minor thalassemia does not usually require treatment. The major form often requires multiple blood transfusions to treat the anemia. These transfusions can lead to iron overload requiring medications to remove the excess iron called chelators. The most severe forms may need a bone marrow transplant.