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Sideroblastic anemia 2(SIDBA2)

MedGen UID:
899109
•Concept ID:
C4225425
•
Disease or Syndrome
Synonyms: Anemia, sideroblastic, 2, pyridoxine-refractory; Anemia, sideroblastic, pyridoxine-refractory, autosomal recessive
 
Gene (location): SLC25A38 (3p22.1)
 
Monarch Initiative: MONDO:0008785
OMIM®: 205950

Clinical features

From HPO
Anemia
MedGen UID:
1526
•Concept ID:
C0002871
•
Disease or Syndrome
A reduction in erythrocytes volume or hemoglobin concentration.
See: Feature record | Search on this feature
Sideroblastic anemia
MedGen UID:
8067
•Concept ID:
C0002896
•
Disease or Syndrome
Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).
See: Feature record | Search on this feature
Hypochromia
MedGen UID:
87187
•Concept ID:
C0333912
•
Finding
A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.
See: Feature record | Search on this feature
Decreased mean corpuscular volume
MedGen UID:
1375398
•Concept ID:
C0855790
•
Finding
A reduction from normal of the mean corpuscular volume, or mean cell volume (MCV) of red blood cells (usually defined as an MCV below 80 femtoliters).
See: Feature record | Search on this feature
Increased circulating ferritin concentration
MedGen UID:
69130
•Concept ID:
C0241013
•
Finding
Increased concentration of ferritin in the blood circulation.
See: Feature record | Search on this feature
Elevated transferrin saturation
MedGen UID:
868498
•Concept ID:
C4022892
•
Finding
An above normal level of saturation of serum transferrin with iron.
See: Feature record | Search on this feature
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Professional guidelines

PubMed

Treatment of Acquired Sideroblastic Anemias.
Mangaonkar AA, Patnaik MM
Hematol Oncol Clin North Am 2020 Apr;34(2):401-420. Epub 2020 Jan 21 doi: 10.1016/j.hoc.2019.11.002. PMID: 32089219
Hereditary sideroblastic anemias: pathophysiology, diagnosis, and treatment.
Camaschella C
Semin Hematol 2009 Oct;46(4):371-7. doi: 10.1053/j.seminhematol.2009.07.001. PMID: 19786205
Sideroblastic anemias: variations on imprecision in diagnostic criteria, proposal for an extended classification of sideroblastic anemias.
Koc S, Harris JW
Am J Hematol 1998 Jan;57(1):1-6. doi: 10.1002/(sici)1096-8652(199801)57:1<1::aid-ajh1>3.0.co;2-0. PMID: 9423809

Recent clinical studies

Etiology

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
Rudaks LI, Watson E, Oboudiyat C, Kumar KR, Sullivan P, Cowley MJ, Davis RL, Sue CM
Am J Med Genet A 2022 Jul;188(7):2226-2230. Epub 2022 Apr 8 doi: 10.1002/ajmg.a.62755. PMID: 35393742Free PMC Article

Diagnosis

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
Rudaks LI, Watson E, Oboudiyat C, Kumar KR, Sullivan P, Cowley MJ, Davis RL, Sue CM
Am J Med Genet A 2022 Jul;188(7):2226-2230. Epub 2022 Apr 8 doi: 10.1002/ajmg.a.62755. PMID: 35393742Free PMC Article
Bone marrow biopsy findings in childhood anemia: prevalence of transient erythroblastopenia of childhood.
Farhi DC, Luebbers EL, Rosenthal NS
Arch Pathol Lab Med 1998 Jul;122(7):638-41. PMID: 9674545

Prognosis

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis, and sideroblastic anemia 2.
Nakajima J, Eminoglu TF, Vatansever G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N, Miyake N
J Hum Genet 2014 Apr;59(4):229-32. Epub 2014 Jan 16 doi: 10.1038/jhg.2013.143. PMID: 24430573

Clinical prediction guides

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.
Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR, Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA, Steensma DP, Rennings AJ, Simons A, Schaap N, Roodenburg RJ, Kleefstra T, Arenillas L, Fita-Torró J, Ahmed R, Abboud M, Bechara E, Farah R, Tamminga RYJ, Bottomley SS, Sanchez M, Huls G, Swinkels DW, Christodoulou J, Fleming MD
Haematologica 2018 Dec;103(12):2008-2015. Epub 2018 Jul 19 doi: 10.3324/haematol.2017.182659. PMID: 30026338Free PMC Article

Supplemental Content

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      Research tests in GTR
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    • OMIM(Genes)
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