Sideroblastic anemia other diagnostic studies

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Shyam Patel [2] Associate Editor(s)-in-Chief:


Other Diagnostic Studies

Other diagnostic studies for sideroblastic anemia include:

  • Urine porphyrin profile may demonstrate:[1]
    • Erythropoietic porphyria
    • Patients with ALAS2 defects have both low/normal levels
    • Patients with ABCB7 defects have increased protoporphyrin
  • Serum lead levels
    • This is increased in sideroblastic anemia secondary to lead toxicity
  • Genetic testing in congenital sideroblasticemias
  • Genetic testing is the most definitive means of establishing the specific diagnosis and characterizing the mutation
  • Genetic testing is performed by DNA sequence analysis using leukocytes from peripheral blood
  • Molecular studies are needed to confirm the genetic disease. Genetic tests are expensive, time consuming, often scarcely available. However, reaching the molecular diagnosis enables genetic counselling and family screening to identify which patients are potentially treatable before the development of complications.
  • In patients with XLSA (and with GLRX5 deficiency) the iron status should be monitored and appropriate treatment should be started as soon as signs of iron overload become manifest, to avoid iron toxicity‐related complications
  • Modifier genes may have a role in modulating iron overload
  • Coinheritance of the hereditary hemochromatosis HFE mutant allele C282Y was found to be significantly higher in XLSA patients than in the normal population (Cotter et al, 1999). Thus in specific cases, the search for mutations in HFE could be appropriate


  1. Bishop DF, Tchaikovskii V, Hoffbrand AV, Fraser ME, Margolis S (2012). "X-linked sideroblastic anemia due to carboxyl-terminal ALAS2 mutations that cause loss of binding to the β-subunit of succinyl-CoA synthetase (SUCLA2)". J Biol Chem. 287 (34): 28943–55. doi:10.1074/jbc.M111.306423. PMC 3436539. PMID 22740690.