Thalassemia is a genetic blood disorder affecting the production of red blood cells. Abnormal production of blood means that affected individuals do not make adequate amounts of functional red blood cells. 1,2Thalassemia is caused by mutations in the DNA of cells that make hemoglobin — the substance in RBC that is responsible to carry oxygen throughout the human body. In addition, hemoglobin molecules are made of chains called alpha and beta chains that can be affected by mutations. 2 As it’s an inherited disorder, the mutations associated with thalassemia are passed from parents to children.1
Thalassemia is an inherited blood disorder characterized by decreased hemoglobin production. Symptoms depend on the type and can vary from none to severe. Often there is mild to severe anemia (low red blood cells or hemoglobin). Anemia can result in feeling tired and pale skin. There may also be bone problems, an enlarged spleen, yellowish skin, and dark urine. Slow growth may occur in children. Thalassemia can be diagnosed via a complete blood count, hemoglobin electrophoresis or high-performance liquid chromatography, and DNA testing.
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