Thalassemia is a group of inherited blood disorders that affect the body’s ability to produce hemoglobin, the protein in red blood cells responsible for carrying oxygen throughout the body. The condition is caused by mutations in the genes responsible for hemoglobin production, resulting in the production of abnormal or insufficient hemoglobin. Thalassemia is classified into two main types: Alpha Thalassemia and Beta Thalassemia, based on which part of the hemoglobin molecule is affected. Beta Thalassemia is more severe and includes forms like Thalassemia Major (Cooley’s Anemia), which requires regular blood transfusions for survival.
Symptoms of thalassemia vary depending on the severity of the disease and may include anemia, fatigue, pale skin, slow growth, bone deformities, and enlarged spleen. Diagnosis is typically made through blood tests, genetic testing, and hemoglobin analysis. Management of thalassemia involves regular blood transfusions, iron chelation therapy to remove excess iron from the body, and in some cases, bone marrow or stem cell transplantation, which offers a potential cure. Advances in gene therapy are also being explored as a future treatment option for this condition. Early diagnosis and treatment are crucial to managing symptoms and preventing complications, improving the quality of life for patients with thalassemia.
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