Abstract
We report the case of a 40-year female who manifested late onset, pyridoxine-refractory X-linked sideroblastic anemia, heterozygous for the first described frameshift ALAS2 mutation, CD506-507 (-C). On presentation she had macrocytic anemia with severe iron overload.
MeSH terms
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5-Aminolevulinate Synthetase / genetics*
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Adult
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Age of Onset
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Alleles
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Anemia, Sideroblastic / complications
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Anemia, Sideroblastic / epidemiology
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Anemia, Sideroblastic / genetics*
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Erythropoiesis / genetics
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Female
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Frameshift Mutation
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Genes, X-Linked*
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Heterozygote
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Humans
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Iron Overload / etiology
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RNA, Messenger / blood
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Sequence Analysis, DNA
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Sequence Deletion
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X Chromosome Inactivation*
Substances
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RNA, Messenger
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5-Aminolevulinate Synthetase
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ALAS2 protein, human