Diagnosis of thalassemia (adults and children) - UpToDate

INTRODUCTION The thalassemias are a group of hemoglobinopathies in which the normal ratio of alpha globin to beta globin production is disrupted due to a genetic variant in one or more alpha or beta globin genes. This abnormal alpha chain to beta chain ratio causes the unpaired chains to precipitate, leading to destruction of red blood cell precursors in the bone marrow (ineffective erythropoiesis) and in the circulation (hemolysis). Individuals with thalassemia have variable degrees of anemia and extramedullary hematopoiesis, which in turn can cause bone changes, impaired growth, and iron overload.

INTRODUCTION The thalassemias are a group of hemoglobinopathies in which the normal ratio of alpha globin to beta globin production is disrupted due to a genetic variant in one or more alpha or beta globin genes. This abnormal alpha chain to beta chain ratio causes the unpaired chains to precipitate, leading to destruction of red blood cell precursors in the bone marrow (ineffective erythropoiesis) and in the circulation (hemolysis). Individuals with thalassemia have variable degrees of anemia and extramedullary hematopoiesis, which in turn can cause bone changes, impaired growth, and iron ove

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• 哲鈞 廖