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GTR Home > Conditions/Phenotypes > Sideroblastic anemia 3

Sideroblastic anemia 3

Synonyms
Sideroblastic anemia 3, pyridoxine-refractory
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Sideroblastic anemia-3 is an autosomal recessive hematologic disorder characterized by onset of anemia in adulthood. Affected individuals show signs of systemic iron overload, and iron chelation therapy may be of clinical benefit (summary by Liu et al., 2014). For a discussion of genetic heterogeneity of sideroblastic anemia, see SIDBA1 (300751). [from OMIM]

Available tests

30 tests are in the database for this condition.

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Clinical tests (30 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: C14orf87, FLB4739, GRX5, PR01238, PRO1238, PRSA, SIDBA3, SPAHGC, GLRX5
    Summary: glutaredoxin 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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