General Information About Mediterranean Anemia
Disease Details and Frequently Asked Questions
It is a type of hereditary anemia that develops as a result of the defective and insufficient synthesis of the hemoglobin structure, which carries oxygen to tissues inside red blood cells.
Carriers (Minor) are generally healthy and experience mild anemia. Major patients, on the other hand, inherit both defective copies of the gene and face severe anemia and organ failure.
In severe patients (Major); paleness, jaundice, growth retardation, spleen enlargement, and prominent deformities in facial bones appear from the first months of life.
A definitive diagnosis is easily made with a complete blood count (Hemogram) and a 'Hemoglobin Electrophoresis' test that examines hemoglobin types in the blood in detail.
Carriers do not require treatment. Major patients undergo regular lifelong blood (erythrocyte) transfusions and chelation therapies to excrete excess iron accumulating in the body. The only definitive cure is a stem cell transplant.
Since the disease is genetic, if both spouses are carriers, there is a 25% chance that their future child will be severely ill (Major). Screenings are a legal requirement to foresee this risk.
Our health library contents are prepared for informational purposes only and with scientific data available at the time of recording. For all your questions, concerns, diagnosis, or treatment regarding your health, please consult your doctor or a healthcare institution.
