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Pyridoxine-responsive sideroblastic anemia

MedGen UID:
75771
•Concept ID:
C0272027
•
Disease or Syndrome
Synonyms: Pyridoxine responsive sideroblastic anemia; Pyridoxine-responsive sideroblastic anaemia
SNOMED CT: Pyridoxine-responsive sideroblastic anemia (191260004); Pyridoxine responsive sideroblastic anemia (25443007)
 
HPO: HP:0005522

Definition

A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPyridoxine-responsive sideroblastic anemia

Professional guidelines

PubMed

Lack of efficacy of pyridoxine (vitamin B6) treatment in acquired idiopathic sideroblastic anaemia, including refractory anaemia with ring sideroblasts.
Baumann Kreuziger LM, Wolanskyj AP, Hanson CA, Steensma DP
Eur J Haematol 2011 Jun;86(6):512-6. Epub 2011 Apr 1 doi: 10.1111/j.1600-0609.2011.01604.x. PMID: 21388451

Recent clinical studies

Diagnosis

Sideroblastic anemia showing unique response to pyridoxine.
Murakami R, Takumi T, Gouji J, Nakamura H, Kondou M
Am J Pediatr Hematol Oncol 1991 Fall;13(3):345-50. doi: 10.1097/00043426-199123000-00019. PMID: 1793162

Therapy

A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia.
Harigae H, Furuyama K, Kudo K, Hayashi N, Yamamoto M, Sassa S, Sasaki T
Am J Hematol 1999 Oct;62(2):112-4. doi: 10.1002/(sici)1096-8652(199910)62:2<112::aid-ajh9>3.0.co;2-l. PMID: 10577279
X-linked pyridoxine-responsive sideroblastic anemia due to a Thr388-to-Ser substitution in erythroid 5-aminolevulinate synthase.
Cox TC, Bottomley SS, Wiley JS, Bawden MJ, Matthews CS, May BK
N Engl J Med 1994 Mar 10;330(10):675-9. doi: 10.1056/NEJM199403103301004. PMID: 8107717
Sideroblastic anemia showing unique response to pyridoxine.
Murakami R, Takumi T, Gouji J, Nakamura H, Kondou M
Am J Pediatr Hematol Oncol 1991 Fall;13(3):345-50. doi: 10.1097/00043426-199123000-00019. PMID: 1793162
Pyridoxine responsive sideroblastic anemia.
Hazra DK, Wahal PK, Maheshwari BB, Bansal OP, Kishore B, Pant PC, Gupta RN
Indian J Med Sci 1974 Apr-May;28(4-5):208-11. PMID: 4435927
Pyridoxine-responsive sideroblastic anemia due to antituberculous drugs.
Haden HT
Arch Intern Med 1967 Nov;120(5):602-6. PMID: 6054596

Prognosis

Sideroblastic anemia showing unique response to pyridoxine.
Murakami R, Takumi T, Gouji J, Nakamura H, Kondou M
Am J Pediatr Hematol Oncol 1991 Fall;13(3):345-50. doi: 10.1097/00043426-199123000-00019. PMID: 1793162

Clinical prediction guides

5-Aminolevulinate synthase in sideroblastic anemias: mRNA and enzyme activity levels in bone marrow cells.
Bottomley SS, Healy HM, Brandenburg MA, May BK
Am J Hematol 1992 Oct;41(2):76-83. doi: 10.1002/ajh.2830410203. PMID: 1415186
Identification of a highly polymorphic marker within intron 7 of the ALAS2 gene and suggestion of at least two loci for X-linked sideroblastic anemia.
Cox TC, Kozman HM, Raskind WH, May BK, Mulley JC
Hum Mol Genet 1992 Nov;1(8):639-41. doi: 10.1093/hmg/1.8.639. PMID: 1301172
Sideroblastic anemia showing unique response to pyridoxine.
Murakami R, Takumi T, Gouji J, Nakamura H, Kondou M
Am J Pediatr Hematol Oncol 1991 Fall;13(3):345-50. doi: 10.1097/00043426-199123000-00019. PMID: 1793162

Supplemental Content

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