Article
The molecular basis of the sideroblastic anemias.
Current opinion in hematology - 1 Mar 1996
Fitzsimons E J, May A
Abstract excerpt
The sideroblastic anemias display remarkable clinical and hematologic heterogeneity but share in common mitochondrial iron loading as evidence of unhinging between intracellular iron metabolism and heme biosynthesis. Molecular defects responsible for this unhinging have now been identified and appear to display matching heterogeneity. Mutations in the erythroid-specific ALA synthase 2 (ALAS2) gene cause...
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