Thalassemias

Thalassemia major showing thalassemic facies with frontal bossing and hair on end appearance on skull X-ray due to bone marrow hyperplasia

What are Thalassemias? Thalassemias are a group of inherited blood disorders characterized by defective production of hemoglobin, the oxygen-carrying protein within red blood cells. This abnormal hemoglobin synthesis leads to premature destruction of red blood cells, resulting in chronic hemolytic anemia of varying severity. The underlying defect in thalassemias arises from mutations in one or more of the globin genes, […]

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