Thalassemia major occurs when a child inherits two mutated genes, one from each parent. Children born with thalassemia major usually develop the symptoms of severe anemia within the first year of life. They lack the ability to produce normal, adult hemoglobin and experience chronic fatigue. They may also fail to thrive.
Two major consequences of the genetic defect of thalassemia are severe anemia and expansion of the bone marrow in the body’s effort to produce more red blood cells. This leads to poor growth, impaired physical activities, facial and other bone deformities, fragile bones and enlargement of the liver and spleen. If left untreated, it will lead to death within the first decade of life. The only treatment to combat severe anemia is regular blood transfusions and iron chelation therapy.
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