Details of Disease

General Information of Disease (ID: DIS4F3X1)

• Disease Name: Sideroblastic anemia
• Synonyms: anemia sideroblastic; anemia, hypochromic with iron loading; anaemia sideroblastic; sideroblastic anemia
• Definition: A group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.
• Disease Hierarchy:
  DISI8W45: Anaemia
  DIS4F3X1: Sideroblastic anemia
• Disease Identifiers:
  MONDO ID: MONDO_0015194
  UMLS CUI: C0002896
  MedGen ID: 8067
  HPO ID: HP:0001924
  Orphanet ID: 1047
  SNOMED CT ID: 41841004

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 3 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ALAS1	TTG1FXO	Strong	Genetic Variation	[1]
GDF15	TT4MXVG	Strong	Biomarker	[2]
HSPA9	TTMTPG3	Strong	Biomarker	[3]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
ABCB7	DT2IMBW	Limited	Genetic Variation	[4]
SLC25A38	DTV8SWX	Limited	Genetic Variation	[5]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
ALAS2	DE437BY	Strong	Genetic Variation	[6]
FXN	DEXVHDB	Strong	Biomarker	[7]

This Disease Is Related to 6 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GLRX5	OTE3L48D	Limited	Biomarker	[7]
NDUFB11	OTFG5777	moderate	Genetic Variation	[8]
FTMT	OTIUX6XG	Strong	Altered Expression	[9]
ISCU	OTSW6DQP	Strong	Biomarker	[10]
PUS1	OTS2DQ0N	Strong	Genetic Variation	[11]
TRNT1	OTD57ILL	Strong	Genetic Variation	[12]

References

• [1] Regulation and tissue-specific expression of -aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.Mol Genet Metab. 2019 Nov;128(3):190-197. doi: 10.1016/j.ymgme.2019.01.015. Epub 2019 Jan 23.
• [2] Growth differentiation factor 15 production is necessary for normal erythroid differentiation and is increased in refractory anaemia with ring-sideroblasts. Br J Haematol. 2009 Jan;144(2):251-62. doi: 10.1111/j.1365-2141.2008.07441.x. Epub 2008 Nov 19.
• [3] Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. Blood. 2015 Dec 17;126(25):2734-8. doi: 10.1182/blood-2015-09-659854. Epub 2015 Oct 21.
• [4] Whole-genome sequencing identifies a novel ABCB7 gene mutation for X-linked congenital cerebellar ataxia in a large family of Mongolian ancestry.Eur J Hum Genet. 2016 Apr;24(4):550-5. doi: 10.1038/ejhg.2015.139. Epub 2015 Aug 5.
• [5] Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia.Pediatr Blood Cancer. 2016 Jul;63(7):1307-9. doi: 10.1002/pbc.25981. Epub 2016 Apr 1.
• [6] A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype.J Pediatr Hematol Oncol. 2017 Aug;39(6):463-465. doi: 10.1097/MPH.0000000000000864.
• [7] TLR-activated repression of Fe-S cluster biogenesis drives a metabolic shift and alters histone and tubulin acetylation.Blood Adv. 2018 May 22;2(10):1146-1156. doi: 10.1182/bloodadvances.2018015669.
• [8] A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. Clin Genet. 2017 Mar;91(3):441-447. doi: 10.1111/cge.12790. Epub 2016 May 25.
• [9] Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia.Blood. 2003 Mar 1;101(5):1996-2000. doi: 10.1182/blood-2002-07-2006. Epub 2002 Oct 24.
• [10] Iron-sulfur cluster biogenesis and human disease.Trends Genet. 2008 Aug;24(8):398-407. doi: 10.1016/j.tig.2008.05.008. Epub 2008 Jul 5.
• [11] Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).Am J Hum Genet. 2004 Jun;74(6):1303-8. doi: 10.1086/421530. Epub 2004 Apr 22.
• [12] Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.Int J Hematol. 2019 Apr;109(4):382-389. doi: 10.1007/s12185-019-02614-0. Epub 2019 Feb 13.