Thalassemias are inherited blood disorders that can result in the abnormal formation of hemoglobin. Symptoms depend on the type and can vary from none to severe. Often there is mild to severe anemia (low red blood cells). Anemia can result in feeling tired and pale skin. There may also be bone problems, an enlarged spleen, yellowish skin, dark urine, and among children slow growth.
Thalassemias are genetic disorders inherited from a person's parents. There are two main types, alpha thalassemia and beta thalassemia.The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin are missing. Diagnosis is typically by blood tests including a complete blood count, special hemoglobin tests, and genetic tests. Diagnosis may occur before birth through prenatal testing.
Treatment depends on the type and severity. Treatment for those with more severe disease often includes regular blood transfusions, iron chelation, and folic acid. Iron chelation may be done with deferoxamine or deferasirox. Occasionally a bone marrow transplant may be an option. Complications may include iron overload from the transfusions with resulting heart or liver disease, infections, and osteoporosis. If the spleen becomes overly enlarged surgical removal may be required.