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Mediterranean anemia, also called thalassemia, is a blood disorder inherited from defective genes in one or both parents. Those afflicted have less hemoglobin and fewer red blood cells than normal. Hemoglobin is a protein that allows red blood cells to carry oxygen throughout the body and to carry carbon dioxide to the lungs to be exhaled. When the body does not have enough oxygen supplied to its organs and tissues, it causes fatigue.
The most common symptoms of Mediterranean anemia are fatigue and weakness due to the lack of oxygen being distributed throughout the body. Sufferers of the disorder may also experience shortness of breath, unusual paleness, or a yellowing of the skin called jaundice. Symptoms range from mild to severe, and can be present as early as birth. Some patients do not experience any symptoms at all, while others may not show signs of the disorder until later in life.
Mediterranean anemia patients can get an overabundance of iron in their bloodstreams from the disease or frequent blood transfusions. Infections are also common due to blood transfusions and can be serious, as with hepatitis. Severe cases can cause bone deformities, enlarged spleen, slowed growth rates, and heart problems, including congestive heart failure and abnormal heart rhythms.
Blood tests to measure the amount of iron in the blood, the amount of red blood cells, and hemoglobin distribution are performed to diagnose this disorder in children. Prenatal testing can also be done if the parents carry the defective genes responsible for the disorder. Prenatal testing methods include chorionic villus sampling of the placenta at around 11 weeks, amniocentesis of the amniotic fluid at 16 weeks, and fetal blood sampling after 18 weeks.
Treatment for mild cases is usually minimal, though patients may need blood transfusions periodically. Blood transfusions are common following surgery, infection, and giving birth. Individuals with severe Mediterranean anemia often need more frequent blood transfusions. Iron can build up in the bloodstream quickly after multiple transfusions, so iron chelators are often given to help the body dispose of the excess iron. In rare severe cases a bone marrow or stem cell transplant may be given if a suitable donor can be found, but these procedures are risky so they are reserved as a last resort.
Most Mediterranean anemia symptoms can be managed by following a few basic health guidelines and lifestyle changes. Patients should avoid excess iron, and eat a nutritious diet high in folic acid, calcium, zinc, and vitamin D to aid the production of new red blood cells and keep the bones healthy. Since the risk of infection is high, it is vital that patients receive an annual flu vaccination and stay up-to-date on other vaccines.