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X-linked sideroblastic anemia is usually associated with reduced 5-aminolevulinate synthase activity in erythroid cells, and some cases are responsive to treatment with pyridoxine, the precursor to the cofactor of the enzyme. The recently identified gene for an erythroid-specific 5-aminolevulinate synthase isoenzyme and its localization to the X chromosome make it likely that one or more defects in this gene underlie the anemia.

X-linked Pyridoxine-Responsive Sideroblastic Anemia Due to a Thr388-to-Ser Substitution in Erythroid 5-Aminolevulinate Synthase

X-linked Pyridoxine-Responsive Sideroblastic Anemia Due to a Thr³⁸⁸-to-Ser Substitution in Erythroid 5-Aminolevulinate Synthase