MCID: SDR003
MIFTS: 43

Sideroblastic Anemia

Categories: Blood diseases, Bone diseases, Genetic diseases, Immune diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Sideroblastic Anemia

MalaCards integrated aliases for Sideroblastic Anemia:

Name: Sideroblastic Anemia 12 77 54 38 30 15 74
Anemia, Sideroblastic 77 45 41
Anemia Sideroblastic 12 54 56
Anemia, Hypochromic with Iron Loading 12

Classifications:



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Disease Ontology 12 DOID:8955
KEGG 38 H00982
ICD9CM 36 285.0
MeSH 45 D000756
NCIt 51 C36078
SNOMED-CT 69 41841004
ICD10 34 D64.3
UMLS 74 C0002896

Summaries for Sideroblastic Anemia

NIH Rare Diseases : 54 Sideroblastic anemia is a group of blood disorders characterized by an impaired ability of the bone marrow to produce normal red blood cells. In this condition, the iron inside red blood cells is inadequately used to make hemoglobin, despite normal amounts of iron. As a result, iron accumulates in the red blood cells, giving a ringed appearance to the nucleus (ringed sideroblast). The signs and symptoms of this condition may include fatigue, breathing difficulties, weakness, and enlargement of the liver or spleen. There are many potential causes of sideroblastic anemia. Depending on the cause, it can be classified as hereditary (sometimes called congenital), acquired, and idiopathic (cause unknown). The treatment for this condition differs depending on the underlying cause. If acquired, avoidance and or removal of the toxin or drug can lead to recovery. Vitamin B6 (pyridoxine) may be useful in some circumstances.

MalaCards based summary : Sideroblastic Anemia, also known as anemia, sideroblastic, is related to myopathy, lactic acidosis, and sideroblastic anemia 1 and anemia, sideroblastic, 1. An important gene associated with Sideroblastic Anemia is ALAS2 (5'-Aminolevulinate Synthase 2), and among its related pathways/superpathways is Glycine, serine and threonine metabolism. The drugs Iron and Deferoxamine have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and myeloid.

Disease Ontology : 12 An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).

Wikipedia : 77 Sideroblastic anemia or sideroachrestic anemia is a form of anemia in which the bone marrow produces... more...

Related Diseases for Sideroblastic Anemia

Diseases in the Sideroblastic Anemia family:

Anemia, Sideroblastic, 4 Anemia, Sideroblastic, 1
Autosomal Dominant Sideroblastic Anemia 4 Autosomal Recessive Sideroblastic Anemia

Diseases related to Sideroblastic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 myopathy, lactic acidosis, and sideroblastic anemia 1 34.6 PUS1 YARS2
2 anemia, sideroblastic, 1 33.8 ABCB7 ALAS1 ALAS2
3 myopathy, lactic acidosis, and sideroblastic anemia 33.6 MT-ATP6 PUS1 YARS2
4 autosomal recessive sideroblastic anemia 33.6 HSPA9 SLC25A38
5 anemia, sideroblastic, 3, pyridoxine-refractory 33.3 GLRX5 SLC25A38
6 pearson marrow-pancreas syndrome 33.2 PUS1 SLC25A38
7 anemia, sideroblastic, 2, pyridoxine-refractory 32.3 GLRX5 SLC25A38
8 mitochondrial myopathy 30.3 MT-ATP6 MT-CO1 PUS1 YARS2
9 lactic acidosis 29.8 LARS2 MT-ATP6 MT-CO1 PUS1 YARS2
10 autosomal recessive pyridoxine-refractory sideroblastic anemia 2 12.7
11 myopathy, lactic acidosis, and sideroblastic anemia 2 12.7
12 sideroblastic anemia with b-cell immunodeficiency, periodic fevers, and developmental delay 12.7
13 myopathy, lactic acidosis, and sideroblastic anemia 3 12.6
14 hydrops, lactic acidosis, and sideroblastic anemia 12.6
15 anemia, sideroblastic, and spinocerebellar ataxia 12.5
16 pyridoxine-responsive sideroblastic anemia 12.4
17 autosomal dominant sideroblastic anemia 4 12.4
18 autosomal recessive pyridoxine-refractory sideroblastic anemia 3 12.4
19 anemia, sideroblastic, pyridoxine-responsive, autosomal recessive 11.8
20 anemia, sideroblastic, 4 11.5
21 trnt1 deficiency 11.3
22 anemia, hypochromic microcytic, with iron overload 2 11.2
23 myopathy 10.6
24 deficiency anemia 10.5
25 leukemia 10.5
26 hemosiderosis 10.4
27 myelodysplastic syndrome 10.2
28 acute leukemia 10.2
29 myeloma, multiple 10.2
30 thalassemia 10.2
31 thrombocytosis 10.2
32 refractory anemia 10.2
33 myelofibrosis 10.1
34 hematopoietic stem cell transplantation 10.1
35 muscle disorders 10.1
36 hairy cell leukemia 10.1
37 myeloid leukemia 10.1
38 depression 10.1
39 atransferrinemia 10.1 ABCB7 ALAS2
40 acute porphyria 10.1 ALAS1 ALAS2
41 coproporphyria, hereditary 10.0 ALAS1 ALAS2
42 x-linked recessive disease 10.0 ABCB7 ALAS2
43 leber optic atrophy 10.0 MT-ATP6 MT-CO1
44 cystic echinococcosis 9.9 MT-ATP6 MT-CO1
45 systemic lupus erythematosus 9.9
46 anemia, autoimmune hemolytic 9.9
47 3-methylglutaconic aciduria, type iii 9.9
48 kearns-sayre syndrome 9.9
49 sickle cell anemia 9.9
50 leukemia, acute lymphoblastic 9.9

Comorbidity relations with Sideroblastic Anemia via Phenotypic Disease Network (PDN): (show all 13)


Active Peptic Ulcer Disease Acute Cystitis
Chronic Kidney Failure Deficiency Anemia
Familial Atrial Fibrillation Heart Disease
Hypothyroidism Iron Deficiency Anemia
Ischemic Heart Disease Neutropenia
Osteoporosis Protein-Energy Malnutrition
Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2

Graphical network of the top 20 diseases related to Sideroblastic Anemia:



Diseases related to Sideroblastic Anemia

Symptoms & Phenotypes for Sideroblastic Anemia

Drugs & Therapeutics for Sideroblastic Anemia

Drugs for Sideroblastic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved, Experimental Phase 2 7439-89-6, 15438-31-0 23925 27284
2
Deferoxamine Approved, Investigational Phase 2 70-51-9 2973
3
Deferasirox Approved, Investigational Phase 2 201530-41-8 5493381
4 Iron Chelating Agents Phase 2
5 Nutrients Phase 2
6 Chelating Agents Phase 2
7 Trace Elements Phase 2
8 Micronutrients Phase 2
9 Siderophores Phase 2
10 Liver Extracts Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluating Use of Deferasirox as Compared to Deferoxamine in Treating Cardiac Iron Overload Completed NCT00600938 Phase 2 Core Study: Deferasirox;Core Study: Deferoxamine;Extension: deferoxamine to deferasirox;Extension: deferasirox to deferoxamine;Deferasirox;Deferoxamine
2 GDF 15 in Sickle Cell Disease and Hereditary Spherocytosis Unknown status NCT01201135
3 Phenotypic and Genotypic Studies in Congenital and Early Onset Ataxias Completed NCT01488461
4 Efficacy of Invitro Expanded Bone Marrow Derived Allogeneic Mesenchymal Stem Cell Transplantation Via Portal Vein or Hepatic Artery or Peripheral Vein in Patients With Wilson Cirrhosis Completed NCT01378182 Not Applicable

Search NIH Clinical Center for Sideroblastic Anemia

Cochrane evidence based reviews: anemia, sideroblastic

Genetic Tests for Sideroblastic Anemia

Genetic tests related to Sideroblastic Anemia:

# Genetic test Affiliating Genes
1 Sideroblastic Anemia 30

Anatomical Context for Sideroblastic Anemia

MalaCards organs/tissues related to Sideroblastic Anemia:

42
Bone, Bone Marrow, Myeloid, Spleen, T Cells, B Cells

Publications for Sideroblastic Anemia

Articles related to Sideroblastic Anemia:

(show top 50) (show all 310)
# Title Authors Year
1
Sideroblastic anemia associated with multisystem mitochondrial disorders. ( 30588737 )
2019
2
GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia. ( 30660387 )
2019
3
PKD1L1-related situs inversus associated with sideroblastic anemia. ( 30791085 )
2019
4
Graft failure after reduced-intensity stem cell transplantation for congenital sideroblastic anemia. ( 30912988 )
2019
5
Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia. ( 29139060 )
2018
6
Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology. ( 29787825 )
2018
7
Five-aminolevulinic acid: New approach for congenital sideroblastic anemia. ( 29878633 )
2018
8
Establishment of a cell model of X-linked sideroblastic anemia using genome editing. ( 29908199 )
2018
9
Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene. ( 29976739 )
2018
10
Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing. ( 29499877 )
2018
11
Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing. ( 29611395 )
2018
12
A defined culture method enabling the establishment of ring sideroblasts from induced pluripotent cells of X-linked sideroblastic anemia. ( 29419427 )
2018
13
Reduced-toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia. ( 30214775 )
2018
14
The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. ( 30026338 )
2018
15
Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity. ( 30006447 )
2018
16
Congenital sideroblastic anemia in a female. ( 30040160 )
2018
17
Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia. ( 30098397 )
2018
18
The molecular genetics of sideroblastic anemia. ( 30401706 )
2018
19
Delayed diagnosis of congenital sideroblastic anemia. ( 30502842 )
2018
20
Congenital sideroblastic anemia of a Saudi child. ( 29213171 )
2017
21
Combined Megaloblastic and Sideroblastic Anemia in an Infant Fed With Goat's Milk. ( 28306690 )
2017
22
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay. ( 29170023 )
2017
23
A novel heterozygous ALAS2 mutation in a female with macrocytic sideroblastic anemia resembling myelodysplastic syndrome with ring sideroblasts: a case report and literature review. ( 28840292 )
2017
24
A Novel g.55040074delT in ALAS2 Gene Resulting in a Monomeric Protein and Severe Sideroblastic Anemia Phenotype. ( 28731922 )
2017
25
Biology of sideroblastic anemia. ( 28484165 )
2017
26
A Novel ALAS2 Mutation Resulting in Variable Phenotypes and Pyridoxine Response in a Family with X-linked Sideroblastic Anemia. ( 28667034 )
2017
27
Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation. ( 28772256 )
2017
28
An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure. ( 28495927 )
2017
29
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (Mlasa) Case Due to A Novel Pus1 Mutation. ( 28832011 )
2017
30
Morphologic features of normoblasts in a case of myopathy, lactic acidosis, and sideroblastic anemia. ( 28232625 )
2017
31
X-linked Sideroblastic Anemia in a Malay Boy With ALAS2 S568G Mutation. ( 28644307 )
2017
32
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. ( 27197761 )
2016
33
Sideroblastic anemia: functional study of two novel missense mutations in ALAS2. ( 27247955 )
2016
34
A Japanese family with X-linked sideroblastic anemia affecting females and manifesting as macrocytic anemia. ( 26862056 )
2016
35
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. ( 26821380 )
2016
36
Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia. ( 27038157 )
2016
37
A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia. ( 27488349 )
2016
38
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. ( 27102574 )
2016
39
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9. ( 26491070 )
2015
40
Mutation analysis of Chinese sporadic congenital sideroblastic anemia by targeted capture sequencing. ( 25985931 )
2015
41
LARS2 Variants Associated with Hydrops, Lactic Acidosis, Sideroblastic Anemia, and Multisystem Failure. ( 26537577 )
2015
42
A Case Report of Decompensated Cirrhosis of Liver with Sideroblastic Anemia. ( 29201689 )
2015
43
Screening for SF3B1 mutations is a useful tool to differentiate between acquired clonal and non-clonal sideroblastic anemia. ( 25330446 )
2014
44
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). ( 25193871 )
2014
45
Transfer RNA and syndromic sideroblastic anemia. ( 25359985 )
2014
46
Isolated Zinc Deficiency Causing Severe Microcytosis and Sideroblastic Anemia. ( 25330540 )
2014
47
Heterozygous missense mutations in the GLRX5 gene cause sideroblastic anemia in a Chinese patient. ( 25342667 )
2014
48
Sideroblastic anemia: diagnosis and management. ( 25064706 )
2014
49
Percutaneous excretion of iron and ferritin (through Al-hijamah) as a novel treatment for iron overload in beta-thalassemia major, hemochromatosis and sideroblastic anemia. ( 24857772 )
2014
50
Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene. ( 25037980 )
2014

Variations for Sideroblastic Anemia

Expression for Sideroblastic Anemia

Search GEO for disease gene expression data for Sideroblastic Anemia.

Pathways for Sideroblastic Anemia

Pathways related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.34 ALAS1 ALAS2

GO Terms for Sideroblastic Anemia

Cellular components related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.65 ABCB7 ALAS1 ALAS2 GLRX5 HSPA9 LARS2
2 mitochondrial inner membrane GO:0005743 9.55 ABCB7 ALAS2 MT-ATP6 MT-CO1 SLC25A38
3 mitochondrial matrix GO:0005759 9.23 ALAS1 ALAS2 GLRX5 HSPA9 LARS2 PUS1

Biological processes related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular iron ion homeostasis GO:0006879 9.43 ABCB7 ALAS2
2 tRNA aminoacylation for protein translation GO:0006418 9.4 LARS2 YARS2
3 biosynthetic process GO:0009058 9.37 ALAS1 ALAS2
4 protoporphyrinogen IX biosynthetic process GO:0006782 9.32 ALAS1 ALAS2
5 porphyrin-containing compound metabolic process GO:0006778 9.26 ALAS1 ALAS2
6 tetrapyrrole biosynthetic process GO:0033014 9.16 ALAS1 ALAS2
7 erythrocyte differentiation GO:0030218 9.13 ALAS2 HSPA9 SLC25A38
8 heme biosynthetic process GO:0006783 8.8 ALAS1 ALAS2 SLC25A38

Molecular functions related to Sideroblastic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.77 ABCB7 HSPA9 LARS2 TRNT1 YARS2
2 ATPase activity GO:0016887 9.43 ABCB7 HSPA9 MT-ATP6
3 pyridoxal phosphate binding GO:0030170 9.32 ALAS1 ALAS2
4 aminoacyl-tRNA ligase activity GO:0004812 9.16 LARS2 YARS2
5 tRNA binding GO:0000049 9.13 PUS1 TRNT1 YARS2
6 5-aminolevulinate synthase activity GO:0003870 8.62 ALAS1 ALAS2

Sources for Sideroblastic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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