Article
Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment.
Seminars in hematology - 1 Oct 2009
Camaschella Clara
Abstract excerpt
Inherited sideroblastic anemia comprises several rare anemias due to heterogeneous genetic lesions, all characterized by the presence of ringed sideroblasts in the bone marrow. This morphological aspect reflects abnormal mitochondrial iron utilization by the erythroid precursors. The most common X-linked sideroblastic anemia (XLSA), due to mutations of the first enzyme of the heme synthetic pathway,...
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