An anemia called Beta-thalassemia major (BTM) results in a deficiency in the production of a hemoglobin component known as beta globin chains. In affected newborns, signs and symptoms generally begin to appear after 6 months of age. Early signs and symptoms of the condition include irritability, pale skin, or yellow skin. Facial features are also affected, changing in response to expansion of bone marrow. The bones are affected, and osteoporosis may become an issue for persons diagnosed with BTM.
Persons diagnosed with BTM usually depend on regular blood transfusions throughout their life. Transfusions can help with childhood growth and development, and can also lead to reduced infections. However, blood transfusions can lead to iron overload, which can damage organs. Iron chelators are often used to help remove excess iron. Removal of the spleen may be needed. Persons affected by BTM should regularly participate in physical activity for prevention of osteoporosis. Also, it is important to get enough calcium and vitamin D to prevent osteoporosis. Bisphosphonate medications, such as alendronate (Fosamax), and calcitonin (Miacalcin) may be prescribed. These medications inhibit osteoclasts, which are the cells that break down bone.

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