MCID: HYP001
MIFTS: 38

Hypochromic Microcytic Anemia

Categories: Blood diseases

Aliases & Classifications for Hypochromic Microcytic Anemia

MalaCards integrated aliases for Hypochromic Microcytic Anemia:

Name: Hypochromic Microcytic Anemia 12 37 29 15
Anemia, Hypochromic Microcytic 55
Microcytic Hypochromic Anemia 72

Classifications:



External Ids:

Disease Ontology 12 DOID:0050642
KEGG 37 H01196
UMLS 72 C0271901

Summaries for Hypochromic Microcytic Anemia

KEGG : 37
Hypochromic microcytic anemia has been associated with a defect of iron absorption due to reduced iron entry into intestinal cells. Several isoforms of NRAMP2 (SLC11A2) are expressed ubiquitously in recycling endosomes or specifically at the apical membrane of epithelial cells in intestine and kidneys, and can contribute to iron overload, whereas mutations impairing NRAMP2 function cause a form of congenital hypochromic microcytic anemia.

MalaCards based summary : Hypochromic Microcytic Anemia, also known as anemia, hypochromic microcytic, is related to hypochromic microcytic anemia with iron overload and iron metabolism disease. An important gene associated with Hypochromic Microcytic Anemia is SLC11A2 (Solute Carrier Family 11 Member 2), and among its related pathways/superpathways are Lysosome and Mineral absorption. The drugs Anti-Infective Agents and Iron Supplement have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lymph node, and related phenotype is liver/biliary system.

Disease Ontology : 12 A microcytic anemia characterized by paler than normal blood cells.

Related Diseases for Hypochromic Microcytic Anemia

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 hypochromic microcytic anemia with iron overload 34.9 STEAP3 SLC11A2
2 iron metabolism disease 31.2 SLC11A2 CP
3 iron deficiency anemia 30.9 TMPRSS6 SLC11A2
4 hemosiderosis 30.8 SLC11A2 CP
5 atransferrinemia 30.4 SLC11A2 CP
6 thalassemia 29.8 HBB HBA2 HBA1
7 microcytic anemia 29.8 TMPRSS6 STEAP3 SLC11A2 HBA2 HBA1
8 hemolytic anemia 29.3 HBB HBA2 HBA1
9 alpha-thalassemia 29.2 HBB HBA2 HBA1
10 deficiency anemia 29.2 TMPRSS6 SLC11A2 HBB HBA2 CP
11 beta-thalassemia 29.2 HBB HBA2 HBA1
12 iron-refractory iron deficiency anemia 12.2
13 anemia, hypochromic microcytic, with iron overload 1 11.9
14 anemia, hypochromic microcytic, with iron overload 2 11.8
15 fetal hemoglobin quantitative trait locus 1 11.8
16 anemia, sideroblastic, 1 11.5
17 anemia, sideroblastic, and spinocerebellar ataxia 11.5
18 majeed syndrome 11.5
19 protoporphyria, erythropoietic, 1 10.4
20 celiac disease 1 10.4
21 splenomegaly 10.4
22 rare hereditary hemochromatosis 10.4
23 colorectal cancer 10.2
24 autosomal recessive disease 10.2
25 colorectal adenoma 10.2
26 nephrotic syndrome 10.2
27 pica disease 10.2
28 male infertility 10.2
29 bilirubin metabolic disorder 10.2
30 glomerulonephritis 10.2
31 purpura 10.2
32 systemic scleroderma 10.2
33 uremia 10.2
34 proliferative glomerulonephritis 10.2
35 infertility 10.2
36 adenoma 10.2
37 chronic kidney disease 10.2
38 evans' syndrome 10.2
39 sideroblastic anemia 10.2
40 hematopoietic stem cell transplantation 10.2
41 metal metabolism disorder 10.1 SLC11A2 CP
42 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.0 HBA2 HBA1
43 diabetes mellitus, insulin-dependent, 24 10.0 HBA2 HBA1
44 hydrops fetalis, nonimmune 10.0 HBA2 HBA1
45 hydrops fetalis 10.0 HBA2 HBA1
46 hypoglycemic coma 10.0 HBA2 HBA1
47 erythrocytosis, familial, 7 10.0 HBA2 HBA1
48 type 1 diabetes mellitus 7 10.0 HBA2 HBA1
49 type 1 diabetes mellitus 11 9.9 HBA2 HBA1
50 immature cataract 9.9 HBA2 HBA1

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



Diseases related to Hypochromic Microcytic Anemia

Symptoms & Phenotypes for Hypochromic Microcytic Anemia

MGI Mouse Phenotypes related to Hypochromic Microcytic Anemia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 8.92 CP SLC11A2 STEAP3 TMPRSS6

Drugs & Therapeutics for Hypochromic Microcytic Anemia

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

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Infective Agents Phase 4
2 Iron Supplement Phase 4
3 Lactoferrin Phase 4
4
Iron Approved, Experimental 15438-31-0, 7439-89-6 23925 27284
5 Hematinics
6 Ferric Compounds
7 ferric gluconate
8 Nutrients
9 Micronutrients
10 Trace Elements

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Bovine Lactoferrin Versus Ferrous Sulphate In The Treatment Of Iron Deficiency Anemia During Pregnancy: A Randomized Controlled Trial Recruiting NCT03202615 Phase 4 F (ferrous sulphate)
2 Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter. A Clinical Retrospective Study. Unknown status NCT00481221
3 CONTROLLED RANDOMIZED PILOT STUDY TO COMPARE THE EFFICACY OF DIFFERENT IRON FORMULATIONS: SUCROSOMAL FERRIC PYROPHOSPHATE, SUNACTIVE Fe AND INTRAVENOUS FERRIC GLUCONATE Completed NCT03771092
4 New Versus Standard Enteral Iron Supplementation Regime in Very Low Birth Weight Infants - A Randomized Controlled Trial Completed NCT00683527 Elemental iron
5 Detection of β-thalassemia Carriers Among Close Relatives of β-thalassemia Children Attending Assiut University Children Hospital Not yet recruiting NCT03822585
6 Red Cell Distribution Width Index Versus Red Cell Distribution Width as Discriminating Guide for Iron Deficiency Anaemia and Beta Thalassemia Trait . Not yet recruiting NCT03868306

Search NIH Clinical Center for Hypochromic Microcytic Anemia

Genetic Tests for Hypochromic Microcytic Anemia

Genetic tests related to Hypochromic Microcytic Anemia:

# Genetic test Affiliating Genes
1 Hypochromic Microcytic Anemia 29

Anatomical Context for Hypochromic Microcytic Anemia

MalaCards organs/tissues related to Hypochromic Microcytic Anemia:

41
Kidney, Liver, Lymph Node, Heart, Bone, Small Intestine, Bone Marrow

Publications for Hypochromic Microcytic Anemia

Articles related to Hypochromic Microcytic Anemia:

(show top 50) (show all 460)
# Title Authors PMID Year
1
Studies of a naturally occurring sulfur-induced copper deficiency in Przewalski's gazelles. 9 38
20190976 2009
2
Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia. 9 38
19579082 2009
3
Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. 9 38
18596229 2008
4
Natural history of recessive inheritance of DMT1 mutations. 9 38
18154916 2008
5
Recent progress in structure-function analyses of Nramp proton-dependent metal-ion transporters. 9 38
17215883 2006
6
Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 9 38
16439678 2006
7
Functional consequences of the human DMT1 (SLC11A2) mutation on protein expression and iron uptake. 9 38
16091455 2005
8
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 9 38
15459009 2005
9
Recently identified molecular aspects of intestinal iron absorption. 9 38
9808632 1998
10
Non-iron mediated alteration in hepatic transferrin gene expression in the nephrotic rat. 9 38
7783403 1995
11
Thalassemia intermedia: compound heterozygous beta zero/beta(+)-thalassemia and co-inherited heterozygous alpha(+)-thalassemia. 9 38
8431522 1993
12
Congenital atransferrinemia. A case report and review of the literature. 9 38
1862777 1991
13
Presentation of Compound Heterozygous Hemoglobin Constant Spring and Hemoglobin Pakse in Neonates. 38
30615015 2019
14
Iron Refractory Iron Deficiency Anemia Due to 374 Base Pairs Deletion in the TMPRSS6 Gene. 38
30130276 2019
15
NCOA4 maintains murine erythropoiesis via cell autonomous and non-autonomous mechanisms. 38
30630985 2019
16
Clinical and therapeutic aspects of an outbreak of canine trypanosomiasis. 38
31188944 2019
17
Causes of Hypochromic Microcytic Anemia in Children and Evaluation of Laboratory Parameters in the Differentiation. 38
30557168 2019
18
Clinical Case of Parvovirus B19 Infection in Pregnant Woman with Β-Thalassemia in Bulgaria. 38
31115230 2019
19
An Incidental Finding of Anemia: Rectal Adenocarcinoma in a Young Adult. 38
31275778 2019
20
A case of ectopic pancreas in the ileum presenting as obscure gastrointestinal bleeding and abdominal pain. 38
30995913 2019
21
Reference intervals for HbA2 and HbF and cut-off value of HbA2 for β-thalassemia carrier screening in a Guizhou population of reproductive age. 38
30503531 2019
22
Distinguishing iron deficiency anemia from thalassemia by the red blood cell lifespan with a simple CO breath test: a pilot study. 38
30641506 2019
23
Recognizing missed opportunities to diagnose and treat iron deficiency anemia: A study based on prevalence of anemia among children in a teaching hospital. 38
31041221 2019
24
Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. 38
30456712 2019
25
Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. 38
30632057 2019
26
Redundant and nonredundant organismal functions of EPS15 and EPS15L1. 38
30692166 2019
27
Hb Knossos (HBB: c.82G > T), β-globin CD 5 (-CT) (HBB: c.17_18delCT) and δ-globin CD 59 (-a) (HBD: c.179delA) mutations in a Syrian patient with β-thalassemia intermedia. 38
30777047 2019
28
Central retinal vein occlusion in a patient with breast carcinoma. 38
30828514 2019
29
First Report of Association Between Rare α-Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C). 38
30728682 2019
30
Clinical manifestations of chronic atrophic gastritis. 38
30561424 2018
31
Molecular analysis of hemoglobinopathies in a large ethnic Hakka population in southern China. 38
30407298 2018
32
Systemic manifestations of extraskeletal myxoid chondrosarcoma associated with a novel t(2;22)(q34;q12) EWS translocation in a child and a review of the literature. 38
30776935 2018
33
Coinheritance of HbD-Punjab/β+-thalassemia (IVSI+5 G-C) in patient with Gilbert's syndrome. 38
30701931 2018
34
Awareness and Attitude of University Students About Screening and Testing for Hemoglobinopathies: Case Study of the Aseer Region, Saudi Arabia. 38
30821195 2018
35
Clinical Course of Homozygous Hemoglobin Constant Spring in Pediatric Patients. 38
29668548 2018
36
Molecular basis of α-thalassemia. 38
29032940 2018
37
Prevalence of anemia in schools of the metropolitan region of Curitiba, Brazil. 38
30057988 2018
38
Novel interactions of two α-Hb variants with SEA deletion α0-thalassemia: hematological and molecular analyses. 38
28945175 2018
39
Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload. 38
29178181 2018
40
A rare case of signet-ring cell carcinoma associated with poorly differentiated adenocarcinoma of the non-ampullary duodenum. 38
29940643 2018
41
Hematological abnormalities in HIV-antiretroviral therapy naïve clients as seen at an immune suppression syndrome clinic at Mbarara Regional Referral Hospital, southwestern Uganda. 38
29983600 2018
42
Associations between iron deficiency anemia and clinical features among pregnant women: a prospective cohort study. 38
30323700 2018
43
Hepatocyte nuclear factor 1A deficiency causes hemolytic anemia in mice by altering erythrocyte sphingolipid homeostasis. 38
29109103 2017
44
Revisiting beta thalassemia intermedia: past, present, and future prospects. 38
28589785 2017
45
Widening the spectrum of deletions and molecular mechanisms underlying alpha-thalassemia. 38
28887661 2017
46
The Frequency and Importance of Common α-globin Gene Deletions Among β-Thalassemia Carriers in an Iranian Population. 38
29090069 2017
47
Rare Ileal Ewing Sarcoma/Primitive Neuroectodermal Tumor on 18F-FDG PET/CT. 38
28806254 2017
48
Diagnosis and molecular characterization of a novel α0 -thalassemia deletion (-Kozani) found in a Greek child with unexplained microcytic hypochromic anemia. 38
28603861 2017
49
A child with severe iron-deficiency anemia and a complex TMPRSS6 genotype. 38
28447549 2017
50
Congenital Hypotransferrinemia, an Unusual Cause of Iron Deficiency Anemia: Report of Two Cases. 38
28824244 2017

Variations for Hypochromic Microcytic Anemia

Expression for Hypochromic Microcytic Anemia

Search GEO for disease gene expression data for Hypochromic Microcytic Anemia.

Pathways for Hypochromic Microcytic Anemia

Pathways related to Hypochromic Microcytic Anemia according to KEGG:

37
# Name Kegg Source Accession
1 Lysosome hsa04142
2 Mineral absorption hsa04978

GO Terms for Hypochromic Microcytic Anemia

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.72 TMPRSS6 HBB HBA2 HBA1 CP
2 blood microparticle GO:0072562 9.56 HBB HBA2 HBA1 CP
3 cytosolic small ribosomal subunit GO:0022627 9.37 HBA2 HBA1
4 endocytic vesicle lumen GO:0071682 9.33 HBB HBA2 HBA1
5 hemoglobin complex GO:0005833 9.13 HBB HBA2 HBA1
6 haptoglobin-hemoglobin complex GO:0031838 8.8 HBB HBA2 HBA1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.67 HBB HBA2 HBA1
2 cellular oxidant detoxification GO:0098869 9.63 HBB HBA2 HBA1
3 protein heterooligomerization GO:0051291 9.61 HBB HBA2 HBA1
4 cellular iron ion homeostasis GO:0006879 9.58 TMPRSS6 SLC11A2 CP
5 response to hydrogen peroxide GO:0042542 9.54 HBB HBA2 HBA1
6 positive regulation of cell death GO:0010942 9.5 HBB HBA2 HBA1
7 copper ion transport GO:0006825 9.48 SLC11A2 CP
8 bicarbonate transport GO:0015701 9.43 HBB HBA2 HBA1
9 iron ion homeostasis GO:0055072 9.33 TMPRSS6 STEAP3 SLC11A2
10 hydrogen peroxide catabolic process GO:0042744 9.13 HBB HBA2 HBA1
11 oxygen transport GO:0015671 8.8 HBB HBA2 HBA1

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

# Name GO ID Score Top Affiliating Genes
1 heme binding GO:0020037 9.54 HBB HBA2 HBA1
2 oxygen binding GO:0019825 9.5 HBB HBA2 HBA1
3 peroxidase activity GO:0004601 9.43 HBB HBA2 HBA1
4 iron ion binding GO:0005506 9.4 HBA2 HBA1
5 oxygen carrier activity GO:0005344 9.33 HBB HBA2 HBA1
6 copper ion binding GO:0005507 9.13 CP
7 organic acid binding GO:0043177 9.13 HBB HBA2 HBA1
8 haptoglobin binding GO:0031720 8.8 HBB HBA2 HBA1

Sources for Hypochromic Microcytic Anemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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