Thalassemia, also known as Cooley's anemia or Mediterranean anemia, is a genetic disease in which the body has a problem creating hemoglobin. Hemoglobin helps red blood cells carry oxygen to the cells and tissues of the body. The National Institutes of Health explains that when a lack of hemoglobin causes an insufficient amount of oxygen in the body this condition is known as anemia.
Causes
Hemoglobin is made of two proteins; alpha globin and beta globin, according to the National Institutes of Health. Alpha thalassemia occurs when the genes related to the alpha globin protein are missing or mutated. Beta thalassemia refers to similar defects that affect production of beta globin proteins. Thalassemia has two forms; thalassemia major and thalassemia minor. In order for a person to develop thalassemia major, both parents must carry the defective gene. Thalassemia minor can occur if just one parent possesses the defective gene. People with thalassemia minor are often carriers of the disease and show no signs or symptoms, according to the National Institutes of Health.
Symptoms
Signs and symptoms vary with thalassemia depending on the type and severity. Symptoms may include fatigue, weakness, shortness of breath, pale appearance, irritability, facial bone deformities, yellow discoloration of the skin known as jaundice, slow growth, protruding abdomen and dark urine, according to the MayoClinic.com. Some people may show signs of thalassemia as early as birth while others may not develop signs and symptoms until around two years of age.
Risk Factors
People with a family history of thalassemia are at greater risk for developing the disorder. Thalassemia is more common in people of certain ancestry, according to the MayoClinic.com The MayoClinic.com explains that alpha thalassemias occur most often in people from Southeast Asia, the Middle East, China and in those of African descent and beta thalassemias occur in persons of Mediterranean origin and to a lesser extent, Chinese, other Asians and African Americans.
Complications
People with thalassemia major may experience a number of complications including an increased risk of iron overload caused by the disease or too many blood transfusions. Too much iron may damage the heart, liver and endocrine system. People with thalassemia major are also at greater risk for blood-borne infection related to blood transfusions such as hepatitis which can cause damage to the liver. The MayoClinic.com warns that in severe anemia, patients may experience an enlarged spleen, slow growth, heart problems and bone deformities.
Treatments
Treatment for thalassemia major often involves folate supplements and regular blood transfusions. Patients receiving blood transfusions should not take iron supplements because this can lead to iron overload. Patients who receive many blood transfusions often need chelation therapy to help remove excess iron from the body. In some patients, a bone marrow transplant may be necessary.
