Aliases & Classifications for Microcytic Anemia

MalaCards integrated aliases for Microcytic Anemia:

Name: Microcytic Anemia 12 28 51 14
Iron-Refractory Iron Deficiency Anemia 41 69

Classifications:



External Ids:

Disease Ontology 12 DOID:11252
MeSH 41 C562385
NCIt 46 C35141
UMLS 69 C0085576

Summaries for Microcytic Anemia

MalaCards based summary : Microcytic Anemia, also known as iron-refractory iron deficiency anemia, is related to hypochromic microcytic anemia and iron-refractory iron deficiency anemia. An important gene associated with Microcytic Anemia is TMPRSS6 (Transmembrane Protease, Serine 6), and among its related pathways/superpathways are Glucose / Energy Metabolism and HIF-1 signaling pathway. The drugs Iron and Citric Acid have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and bone, and related phenotypes are hematopoietic system and homeostasis/metabolism

Wikipedia : 72 Microcytic anaemia is any of several types of anaemia characterized by small red blood cells (called... more...

Related Diseases for Microcytic Anemia

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

(show top 50) (show all 94)
# Related Disease Score Top Affiliating Genes
1 hypochromic microcytic anemia 33.8 HBA2 SLC11A2 TF TMPRSS6
2 iron-refractory iron deficiency anemia 32.9 EPO TMPRSS6
3 atransferrinemia 32.0 ALAS2 SLC11A2 TF TFRC
4 anemia, sideroblastic, 1 31.6 ACO1 ALAS2 TFRC
5 hemosiderosis 30.2 EPO SLC11A2 TF TFRC
6 iron metabolism disease 29.8 EPO IREB2 SLC11A2 TF TFRC
7 thalassemia 29.5 EPO HBA1 HBA2 TF TFRC
8 iron deficiency anemia 29.4 EPO SLC11A2 TF TFRC TMPRSS6
9 alpha-thalassemia 28.3 EPO G6PD HBA1 HBA2 TFRC
10 beta-thalassemia 28.1 EPO G6PD HBA1 HBA2 TF TFRC
11 deficiency anemia 27.4 ALAS2 CAT EPO G6PD HBA2 SLC11A2
12 hypochromic microcytic anemia with iron overload 12.5
13 autoinflammation, lipodystrophy, and dermatosis syndrome 12.0
14 anemia, hypochromic microcytic, with iron overload 1 11.6
15 sialuria 11.1
16 3-methylglutaconic aciduria, type v 11.1
17 anemia, hypochromic microcytic, with iron overload 2 11.1
18 anemia, congenital dyserythropoietic, type iii 11.0
19 fetal hemoglobin quantitative trait locus 1 11.0
20 5-oxoprolinase deficiency 11.0
21 anemia, sideroblastic, and spinocerebellar ataxia 11.0
22 majeed syndrome 11.0
23 macrocytic anemia 11.0
24 metal metabolism disorder 10.2 SLC11A2 TF TFRC
25 toxic optic neuropathy 10.2 CAT EPO
26 methemoglobinemia, beta-globin type 10.1 HBA1 HBA2
27 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.1 HBA1 HBA2
28 hydrops fetalis, nonimmune 10.1 HBA1 HBA2
29 refractory anemia 10.1 ALAS2 EPO
30 diabetes mellitus, insulin-dependent, 24 10.1 HBA1 HBA2
31 fetal erythroblastosis 10.1 EPO TFRC
32 neonatal anemia 10.1 EPO HBA2
33 glutathione peroxidase deficiency 10.1 HBA1 HBA2
34 ehrlichiosis 10.1 ACO1 TFRC
35 heinz body anemias 10.1 HBA1 HBA2
36 type 1 diabetes mellitus 7 10.1 HBA1 HBA2
37 type 1 diabetes mellitus 11 10.1 HBA1 HBA2
38 hydrops fetalis 10.0 HBA1 HBA2
39 hepatitis 10.0
40 immature cataract 10.0 HBA1 HBA2
41 senile angioma 10.0 HBA1 TF
42 pure red-cell aplasia 10.0 EPO TF
43 folic acid deficiency anemia 10.0 EPO TF TFRC
44 immune hydrops fetalis 10.0 HBA1 HBA2
45 immune system disease 10.0 EPO TF TFRC
46 angel-shaped phalangoepiphyseal dysplasia 9.9
47 celiac disease 1 9.9
48 renal tubular acidosis 9.9
49 mucositis 9.9
50 panniculitis 9.9

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



Diseases related to Microcytic Anemia

Symptoms & Phenotypes for Microcytic Anemia

MGI Mouse Phenotypes related to Microcytic Anemia:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 9.96 IREB2 PSMB8 SLC11A2 ST14 TF ALAS2
2 homeostasis/metabolism MP:0005376 9.9 IREB2 SLC11A2 ST14 ACO1 TF ALAS2
3 integument MP:0010771 9.5 IREB2 SLC11A2 ST14 ALAS2 TFRC TMPRSS6
4 mortality/aging MP:0010768 9.4 IREB2 SLC11A2 ST14 ACO1 TF ALAS2

Drugs & Therapeutics for Microcytic Anemia

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved Phase 2 7439-89-6 23925
2
Citric Acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
3 Anticoagulants Phase 2
4 Calcium, Dietary Phase 2
5 Chelating Agents Phase 2
6 Micronutrients Phase 2
7 Pharmaceutical Solutions Phase 2
8 Trace Elements Phase 2
9 Citrate Nutraceutical Phase 2
10 Iron Supplement Nutraceutical Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Triferic IRIDA Protocol Active, not recruiting NCT02905981 Phase 2 Fer-In-Sol;Shohl's solution;Triferic
2 Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter Enrolling by invitation NCT00481221
3 The Effect of Genetic Variation in TMPRSS6 Gene (SNP rs855791) on Oral Iron Absorption: an Iron Stable Isotope Study Not yet recruiting NCT03317873

Search NIH Clinical Center for Microcytic Anemia

Cochrane evidence based reviews: iron-refractory iron deficiency anemia

Genetic Tests for Microcytic Anemia

Genetic tests related to Microcytic Anemia:

# Genetic test Affiliating Genes
1 Microcytic Anemia 28 TMPRSS6

Anatomical Context for Microcytic Anemia

MalaCards organs/tissues related to Microcytic Anemia:

38
Liver, Bone Marrow, Bone, Skin, Colon, Kidney

Publications for Microcytic Anemia

Articles related to Microcytic Anemia:

(show top 50) (show all 133)
# Title Authors Year
1
Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload. ( 29178181 )
2018
2
Gastrointestinal: Cause or effect: A case of microcytic anemia. ( 29024014 )
2017
3
Critical appraisal of discriminant formulas for distinguishing thalassemia from iron deficiency in patients with microcytic anemia. ( 28182576 )
2017
4
Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia. ( 26812794 )
2016
5
Mutating heme oxygenase-1 into a peroxidase causes a defect in bilirubin synthesis associated with microcytic anemia and severe hyperinflammation. ( 27662012 )
2016
6
Mild Microcytic Anemia in an Infant with a Compound Heterozygosity for Hb C (HBB: c.19Ga88>a88A) and Hb Osu Christiansborg (HBB: c.157Ga88>a88A). ( 27117572 )
2016
7
Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a reply. ( 26812799 )
2016
8
Prevalence of alpha thalassemia in microcytic anemia: a tertiary care experience from north India. ( 25574363 )
2015
9
Evaluation of Alpha-Thalassemia Mutations in Cases with Hypochromic Microcytic Anemia: The A^stanbul Perspective. ( 26377141 )
2015
10
Extent of Microcytic Anemia among Children in a low-income, Peri-urban Community in the Dominican Republic using different cut-points. ( 25505156 )
2015
11
Discriminant indices for distinguishing thalassemia and iron deficiency in patients with microcytic anemia: a meta-analysis. ( 26536581 )
2015
12
Further acatalasemia mutations in human patients from Hungary with diabetes and microcytic anemia. ( 25772105 )
2015
13
Discrimination index of microcytic anemia in young soldiers: a single institutional analysis. ( 25679510 )
2015
14
Application of Innovative Hemocytometric Parameters and Algorithms for Improvement of Microcytic Anemia Discrimination. ( 26331001 )
2015
15
Abnormal erythroid maturation leads to microcytic anemia in the TSAP6/Steap3 null mouse model. ( 25515317 )
2015
16
Clinical Reasoning: A 28-year-old woman with lower extremity spasticity and microcytic anemia. ( 26170404 )
2015
17
Microcytic anemia. ( 25539123 )
2014
18
Exacerbation of microcytic anemia associated with cessation of anti-retroviral therapy in an HIV-1-infected patient with beta thalassemia. ( 24613601 )
2014
19
Microcytic anemia. ( 25539122 )
2014
20
Sixteen years post radiotherapy of nasopharyngeal carcinoma elicited multi-dysfunction along PTX and chronic kidney disease with microcytic anemia. ( 24520983 )
2014
21
Microcytic anemia in a pregnant woman: beyond iron deficiency. ( 25547425 )
2014
22
Microcytic anemia. ( 25539121 )
2014
23
Microcytic anemia. ( 25271605 )
2014
24
Meckel's diverticulum revealed by microcytic anemia: the contribution of CT enteroclysis. ( 24618562 )
2014
25
Enhanced accuracy of optical platelet counts in microcytic anemia. ( 24719982 )
2014
26
Differential diagnosis of microcytic anemia: the role of microcytic and hypochromic erythrocytes. ( 25181647 )
2014
27
Microcytic anemia. ( 25539120 )
2014
28
A double red cells population in a woman with a microcytic anemia. ( 24660232 )
2014
29
Early detection of iron deficiency in elite athletes: could microcytic anemia factor (Maf) be useful? ( 23731862 )
2013
30
Castleman-Kojima disease (TAFRO syndrome) : a novel systemic inflammatory disease characterized by a constellation of symptoms, namely, thrombocytopenia, ascites (anasarca), microcytic anemia, myelofibrosis, renal dysfunction, and organomegaly : a status report and summary of Fukushima (6 June, 2012) and Nagoya meetings (22 September, 2012). ( 23801135 )
2013
31
p,p'-DDT induces microcytic anemia in rats. ( 24067725 )
2013
32
Iron-Refractory Microcytic Anemia as the Presenting Feature of Unicentric Castleman Disease in Children. ( 24367988 )
2013
33
Multivariable discriminant analysis for the differential diagnosis of microcytic anemia. ( 24093062 )
2013
34
A simple method for examination of polymorphisms of catalase exon 9: rs769217 in Hungarian microcytic anemia and beta-thalassemia patients. ( 22286031 )
2012
35
Severe microcytic anemia but increased erythropoiesis in mice lacking Hfe or Tfr2 and Tmprss6. ( 22244935 )
2012
36
An unusual case of severe microcytic anemia. ( 22031122 )
2012
37
I+-Thalassemia frequency and mutations in children with hypochromic microcytic anemias and relation with I^-thalassemia, iron deficiency anemia. ( 22475300 )
2012
38
The role of automated measurement of RBC subpopulations in differential diagnosis of microcytic anemia and I^-thalassemia screening. ( 21350090 )
2011
39
Surgically curable non-iron deficiency microcytic anemia: Castleman's disease. ( 21934347 )
2011
40
A novel N491S mutation in the human SLC11A2 gene impairs protein trafficking and in association with the G212V mutation leads to microcytic anemia and liver iron overload. ( 21871825 )
2011
41
The role of automated measurement of red cell subpopulations on the Sysmex XE 5000 analyzer in the differential diagnosis of microcytic anemia. ( 20492000 )
2011
42
Prevalence of common I+-thalassemia determinants in south Brazil: Importance for the diagnosis of microcytic anemia. ( 21637571 )
2010
43
An autosomal recessive syndrome of joint contractures, muscular atrophy, microcytic anemia, and panniculitis-associated lipodystrophy. ( 20534754 )
2010
44
PSMB8 encoding the beta5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis- induced lipodystrophy syndrome. ( 21129723 )
2010
45
M/H ratio for the differential diagnosis of microcytic anemia. ( 19267813 )
2009
46
Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia. ( 19579082 )
2009
47
Molecular basis of inherited microcytic anemia due to defects in iron acquisition or heme synthesis. ( 19181781 )
2009
48
Moderate and severe microcytic anemia in the emergency department: indicators of care. ( 19483131 )
2009
49
Hypochromic microcytic anemia with a variant hemoglobin. ( 19006231 )
2009
50
Evaluation of microcytic anemia. ( 18832550 )
2009

Variations for Microcytic Anemia

ClinVar genetic disease variations for Microcytic Anemia:

6 (show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 TMPRSS6 NM_153609.3(TMPRSS6): c.1564G> A (p.Glu522Lys) single nucleotide variant Pathogenic rs387907018 GRCh37 Chromosome 22, 37469590: 37469590
2 TMPRSS6 NM_153609.3(TMPRSS6): c.1904_1905dupGC (p.Lys636Alafs) duplication Pathogenic rs869320724 GRCh38 Chromosome 22, 37069308: 37069309
3 TMPRSS6 NM_153609.3(TMPRSS6): c.1813delG (p.Ala605Profs) deletion Pathogenic rs786205057 GRCh38 Chromosome 22, 37070539: 37070539
4 TMPRSS6 NM_153609.3(TMPRSS6): c.1582+1G> A single nucleotide variant Pathogenic rs786205058 GRCh38 Chromosome 22, 37073531: 37073531
5 TMPRSS6 NM_153609.3(TMPRSS6): c.2140+1G> C single nucleotide variant Pathogenic rs786205059 GRCh37 Chromosome 22, 37465112: 37465112
6 TMPRSS6 NM_153609.3(TMPRSS6): c.1324G> A (p.Gly442Arg) single nucleotide variant Pathogenic rs137853119 GRCh37 Chromosome 22, 37471220: 37471220
7 TMPRSS6 NM_153609.3(TMPRSS6): c.1561G> A (p.Asp521Asn) single nucleotide variant Pathogenic rs137853120 GRCh37 Chromosome 22, 37469593: 37469593
8 TMPRSS6 NM_153609.3(TMPRSS6): c.1065C> A (p.Tyr355Ter) single nucleotide variant Pathogenic rs137853121 GRCh37 Chromosome 22, 37480815: 37480815
9 TMPRSS6 TMPRSS6, 1-BP DEL, 1383A deletion Pathogenic
10 TMPRSS6 NM_153609.3(TMPRSS6): c.1179T> G (p.Tyr393Ter) single nucleotide variant Pathogenic rs137853122 GRCh37 Chromosome 22, 37480379: 37480379
11 TMPRSS6 NM_153609.3(TMPRSS6): c.1795C> T (p.Arg599Ter) single nucleotide variant Pathogenic rs137853123 GRCh37 Chromosome 22, 37466597: 37466597
12 TMPRSS6 NM_153609.3(TMPRSS6): c.2055_2058dupCCCC (p.Val687Profs) duplication Pathogenic rs786205060 GRCh38 Chromosome 22, 37069155: 37069158
13 TMPRSS6 NM_153609.3(TMPRSS6): c.353C> A (p.Ala118Asp) single nucleotide variant Pathogenic rs267607121 GRCh37 Chromosome 22, 37494466: 37494466

Expression for Microcytic Anemia

Search GEO for disease gene expression data for Microcytic Anemia.

Pathways for Microcytic Anemia

GO Terms for Microcytic Anemia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.91 ACO1 CAT G6PD HBA1 HBA2 PSMB8
2 recycling endosome GO:0055037 9.63 SLC11A2 TF TFRC
3 blood microparticle GO:0072562 9.46 HBA1 HBA2 TF TFRC
4 basal part of cell GO:0045178 9.43 SLC11A2 TF
5 endocytic vesicle lumen GO:0071682 9.4 HBA1 HBA2
6 hemoglobin complex GO:0005833 9.37 HBA1 HBA2
7 HFE-transferrin receptor complex GO:1990712 9.32 TF TFRC
8 extracellular space GO:0005615 9.23 CAT EPO HBA1 HBA2 ST14 TF
9 haptoglobin-hemoglobin complex GO:0031838 8.96 HBA1 HBA2
10 extracellular region GO:0005576 10.02 CAT EPO HBA1 HBA2 ST14 TF

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 response to hypoxia GO:0001666 9.74 ALAS2 CAT EPO
2 cellular oxidant detoxification GO:0098869 9.61 CAT HBA1 HBA2
3 transferrin transport GO:0033572 9.58 TF TFRC
4 response to hydrogen peroxide GO:0042542 9.58 CAT HBA1 HBA2
5 osteoclast differentiation GO:0030316 9.56 IREB2 TFRC
6 heme biosynthetic process GO:0006783 9.55 ALAS2 SLC11A2
7 response to vitamin A GO:0033189 9.54 CAT EPO
8 response to hyperoxia GO:0055093 9.52 CAT EPO
9 intestinal absorption GO:0050892 9.51 ACO1 IREB2
10 oxygen transport GO:0015671 9.49 HBA1 HBA2
11 erythrocyte maturation GO:0043249 9.48 EPO G6PD
12 protoporphyrinogen IX biosynthetic process GO:0006782 9.46 ALAS2 IREB2
13 hydrogen peroxide catabolic process GO:0042744 9.43 CAT HBA1 HBA2
14 hemoglobin biosynthetic process GO:0042541 9.37 ALAS2 EPO
15 iron ion transport GO:0006826 9.33 IREB2 SLC11A2 TF
16 porphyrin-containing compound metabolic process GO:0006778 9.32 ALAS2 SLC11A2
17 iron ion homeostasis GO:0055072 9.26 IREB2 SLC11A2 TF TMPRSS6
18 cellular iron ion homeostasis GO:0006879 9.17 ACO1 ALAS2 IREB2 SLC11A2 TF TFRC

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.5 CAT HBA1 HBA2
2 NADP binding GO:0050661 9.37 CAT G6PD
3 oxygen carrier activity GO:0005344 9.26 HBA1 HBA2
4 haptoglobin binding GO:0031720 9.16 HBA1 HBA2
5 iron-responsive element binding GO:0030350 8.96 ACO1 IREB2
6 peroxidase activity GO:0004601 8.8 CAT HBA1 HBA2

Sources for Microcytic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....