MCID: HYP001
MIFTS: 39

Hypochromic Microcytic Anemia

Categories: Blood diseases

Aliases & Classifications for Hypochromic Microcytic Anemia

MalaCards integrated aliases for Hypochromic Microcytic Anemia:

Name: Hypochromic Microcytic Anemia 12 36 29 15
Anemia, Hypochromic Microcytic 54
Microcytic Hypochromic Anemia 71

Classifications:



External Ids:

Disease Ontology 12 DOID:0050642
KEGG 36 H01196
UMLS 71 C0271901

Summaries for Hypochromic Microcytic Anemia

KEGG : 36 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-refractory iron deficiency anemia. 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 Lactoferrin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and lymph node, and related phenotypes are Decreased shRNA abundance and 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 85)
# Related Disease Score Top Affiliating Genes
1 hypochromic microcytic anemia with iron overload 34.9 STEAP3-AS1 STEAP3 SLC11A2
2 iron-refractory iron deficiency anemia 33.8 TMPRSS6 HJV
3 alpha-thalassemia 30.6 HBB HBA2 HBA1
4 hemolytic anemia 30.4 TF HBB HBA2 HBA1
5 atransferrinemia 29.9 TMPRSS6 TF SLC11A2 HJV HAMP
6 thalassemia 29.8 TMPRSS6 TF HJV HBB HBA2 HBA1
7 protoporphyria, erythropoietic, 1 29.8 SLC25A38 ALAS2 ABCB7
8 hemosiderosis 29.7 TF SLC11A2 HJV HAMP CP ALAS2
9 anemia, sideroblastic, and spinocerebellar ataxia 29.7 SLC25A38 ISCA2 IBA57 GLRX5 ALAS2 ABCB7
10 iron deficiency anemia 29.7 TMPRSS6 TF SLC11A2 HJV HBA1 HAMP
11 iron metabolism disease 29.6 TMPRSS6 TF SLC11A2 HJV HBB HBA2
12 beta-thalassemia 29.2 TMPRSS6 TF HJV HBB HBA2 HBA1
13 microcytic anemia 28.3 TMPRSS6 TF STEAP3-AS1 STEAP3 SLC11A2 LPIN2
14 sideroblastic anemia 28.2 SLC25A38 HJV HAMP GLRX5 ALAS2 ABCB7
15 anemia, sideroblastic, 1 28.1 STEAP3 SLC25A38 SLC11A2 ISCA2 IBA57 HJV
16 deficiency anemia 27.5 TMPRSS6 TF STEAP3 SLC25A38 SLC11A2 HJV
17 anemia, hypochromic microcytic, with iron overload 1 11.9
18 anemia, hypochromic microcytic, with iron overload 2 11.8
19 fetal hemoglobin quantitative trait locus 1 11.8
20 majeed syndrome 11.5
21 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.4 HBA2 HBA1
22 celiac disease 1 10.4
23 splenomegaly 10.4
24 rare hereditary hemochromatosis 10.4
25 hemoglobin zurich 10.3 HBB HBA2
26 erythrocytosis, familial, 7 10.3 HBA2 HBA1
27 hypoglycemic coma 10.3 HBA2 HBA1
28 alpha thalassemia-intellectual disability syndrome type 1 10.3 HBA2 HBA1
29 histiocytosis-lymphadenopathy plus syndrome 10.3 HBB HBA2
30 juvenile hereditary hemochromatosis 10.2 HJV HAMP
31 pyridoxine-responsive sideroblastic anemia 10.2 HBB ALAS2
32 diabetes mellitus, insulin-dependent, 24 10.2 HBA2 HBA1
33 colorectal cancer 10.2
34 autosomal recessive disease 10.2
35 colorectal adenoma 10.2
36 nephrotic syndrome 10.2
37 pica disease 10.2
38 male infertility 10.2
39 bilirubin metabolic disorder 10.2
40 glomerulonephritis 10.2
41 purpura 10.2
42 systemic scleroderma 10.2
43 uremia 10.2
44 proliferative glomerulonephritis 10.2
45 infertility 10.2
46 adenoma 10.2
47 chronic kidney disease 10.2
48 evans' syndrome 10.2
49 methemoglobinemia, beta-globin type 10.2 HBB HBA2 HBA1
50 glutathione peroxidase deficiency 10.2 HBB 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

GenomeRNAi Phenotypes related to Hypochromic Microcytic Anemia according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00297-A 8.92 ABCB7 GLRX5 ISCA2 SLC25A38

MGI Mouse Phenotypes related to Hypochromic Microcytic Anemia:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 liver/biliary system MP:0005370 9.17 ABCB7 CP HJV LPIN2 SLC11A2 STEAP3

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 Lactoferrin Phase 4
3 Iron Supplement Phase 4
4
Iron Approved, Experimental 7439-89-6, 15438-31-0 23925 27284
5 ferric gluconate
6 Hematinics
7 Ferric Compounds
8 Trace Elements
9 Nutrients
10 Micronutrients

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 CONTROLLED RANDOMIZED PILOT STUDY TO COMPARE THE EFFICACY OF DIFFERENT IRON FORMULATIONS: SUCROSOMAL FERRIC PYROPHOSPHATE, SUNACTIVE Fe AND INTRAVENOUS FERRIC GLUCONATE Completed NCT03771092
3 New Versus Standard Enteral Iron Supplementation Regime in Very Low Birth Weight Infants - A Randomized Controlled Trial Completed NCT00683527 Elemental iron
4 Detection of β Thalassemia Carriers by Red Cell Parameters Obtained From the H2 Automatic Counter. A Clinical Retrospective Study. Active, not recruiting NCT00481221
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:

40
Kidney, Liver, Lymph Node, Bone, Heart, Bone Marrow, Small Intestine

Publications for Hypochromic Microcytic Anemia

Articles related to Hypochromic Microcytic Anemia:

(show top 50) (show all 470)
# Title Authors PMID Year
1
Studies of a naturally occurring sulfur-induced copper deficiency in Przewalski's gazelles. 54 61
20190976 2009
2
Severe hypochromic microcytic anemia in a patient with congenital atransferrinemia. 54 61
19579082 2009
3
Two nonsense mutations in the TMPRSS6 gene in a patient with microcytic anemia and iron deficiency. 54 61
18596229 2008
4
Natural history of recessive inheritance of DMT1 mutations. 61 54
18154916 2008
5
Recent progress in structure-function analyses of Nramp proton-dependent metal-ion transporters. 54 61
17215883 2006
6
Two new human DMT1 gene mutations in a patient with microcytic anemia, low ferritinemia, and liver iron overload. 61 54
16439678 2006
7
Functional consequences of the human DMT1 (SLC11A2) mutation on protein expression and iron uptake. 54 61
16091455 2005
8
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload. 54 61
15459009 2005
9
Recently identified molecular aspects of intestinal iron absorption. 61 54
9808632 1998
10
Non-iron mediated alteration in hepatic transferrin gene expression in the nephrotic rat. 61 54
7783403 1995
11
Thalassemia intermedia: compound heterozygous beta zero/beta(+)-thalassemia and co-inherited heterozygous alpha(+)-thalassemia. 54 61
8431522 1993
12
Congenital atransferrinemia. A case report and review of the literature. 54 61
1862777 1991
13
Evaluation of the curative effect of Balanites aegyptiaca fruits ethanolic extract on Haemonchosis experimentally induced in Egyptian Baladi goats: phytoanalytical, parasitological and hematological studies. 61
31749536 2019
14
Heme-regulated eIF2α kinase in erythropoiesis and hemoglobinopathies. 61
31554636 2019
15
ThalPred: a web-based prediction tool for discriminating thalassemia trait and iron deficiency anemia. 61
31699079 2019
16
Sub-chronic exposure to Kalach 360 SL-induced damage in rats' liver and hematological system. 61
31732955 2019
17
[Clinical and genetic analysis of a patient with Hb Ottawa in conjunction with β -thalassemia]. 61
31703143 2019
18
[Phenotype Analysis of 78 Cases of Abnormal Hemoglobin E Homozygotes]. 61
31607315 2019
19
A 50-Year-Old Woman With Uterine Myomatosis, Rapidly Progressive Dyspnea, and Lower Extremity Edema. 61
31511163 2019
20
Alpha-globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran. 61
31478238 2019
21
Presentation of Compound Heterozygous Hemoglobin Constant Spring and Hemoglobin Pakse in Neonates. 61
30615015 2019
22
Reticulocyte Hemoglobin Equivalent (Ret-He) Combined with Red Blood Cell Distribution Width Has a Differentially Diagnostic Value for Thalassemias. 61
31476929 2019
23
NCOA4 maintains murine erythropoiesis via cell autonomous and non-autonomous mechanisms. 61
30630985 2019
24
Iron Refractory Iron Deficiency Anemia Due to 374 Base Pairs Deletion in the TMPRSS6 Gene. 61
30130276 2019
25
Clinical and therapeutic aspects of an outbreak of canine trypanosomiasis. 61
31188944 2019
26
Causes of Hypochromic Microcytic Anemia in Children and Evaluation of Laboratory Parameters in the Differentiation. 61
30557168 2019
27
Clinical Case of Parvovirus B19 Infection in Pregnant Woman with Β-Thalassemia in Bulgaria. 61
31115230 2019
28
An Incidental Finding of Anemia: Rectal Adenocarcinoma in a Young Adult. 61
31275778 2019
29
A case of ectopic pancreas in the ileum presenting as obscure gastrointestinal bleeding and abdominal pain. 61
30995913 2019
30
Reference intervals for HbA2 and HbF and cut-off value of HbA2 for β-thalassemia carrier screening in a Guizhou population of reproductive age. 61
30503531 2019
31
Distinguishing iron deficiency anemia from thalassemia by the red blood cell lifespan with a simple CO breath test: a pilot study. 61
30641506 2019
32
Recognizing missed opportunities to diagnose and treat iron deficiency anemia: A study based on prevalence of anemia among children in a teaching hospital. 61
31041221 2019
33
Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. 61
30632057 2019
34
Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. 61
30456712 2019
35
Redundant and nonredundant organismal functions of EPS15 and EPS15L1. 61
30692166 2019
36
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. 61
30777047 2019
37
Prevalence, Morphological Classification, And Factors Associated With Anemia Among Pregnant Women Accessing Antenatal Clinic At Itojo Hospital, South Western Uganda. 61
31695541 2019
38
Central retinal vein occlusion in a patient with breast carcinoma. 61
30828514 2019
39
First Report of Association Between Rare α-Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C). 61
30728682 2019
40
Clinical manifestations of chronic atrophic gastritis. 61
30561424 2018
41
Molecular analysis of hemoglobinopathies in a large ethnic Hakka population in southern China. 61
30407298 2018
42
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. 61
30776935 2018
43
Coinheritance of HbD-Punjab/β+-thalassemia (IVSI+5 G-C) in patient with Gilbert's syndrome. 61
30701931 2018
44
Awareness and Attitude of University Students About Screening and Testing for Hemoglobinopathies: Case Study of the Aseer Region, Saudi Arabia. 61
30821195 2018
45
Clinical Course of Homozygous Hemoglobin Constant Spring in Pediatric Patients. 61
29668548 2018
46
Molecular basis of α-thalassemia. 61
29032940 2018
47
Prevalence of anemia in schools of the metropolitan region of Curitiba, Brazil. 61
30057988 2018
48
Novel interactions of two α-Hb variants with SEA deletion α0-thalassemia: hematological and molecular analyses. 61
28945175 2018
49
Hereditary hypochromic microcytic anemia associated with loss-of-function DMT1 gene mutations and absence of liver iron overload. 61
29178181 2018
50
A rare case of signet-ring cell carcinoma associated with poorly differentiated adenocarcinoma of the non-ampullary duodenum. 61
29940643 2018

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:

36
# 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 10.01 TMPRSS6 TF HJV HBB HBA2 HBA1
2 mitochondrion GO:0005739 9.98 SLC25A38 SLC11A2 ISCA2 IBA57 GLRX5 ALAS2
3 mitochondrial matrix GO:0005759 9.78 ISCA2 IBA57 GLRX5 ALAS2
4 endocytic vesicle lumen GO:0071682 9.5 HBB HBA2 HBA1
5 basal part of cell GO:0045178 9.46 TF SLC11A2
6 hemoglobin complex GO:0005833 9.43 HBB HBA2 HBA1
7 HFE-transferrin receptor complex GO:1990712 9.37 TF HJV
8 blood microparticle GO:0072562 9.35 TF HBB HBA2 HBA1 CP
9 haptoglobin-hemoglobin complex GO:0031838 9.33 HBB HBA2 HBA1
10 cell GO:0005623 9.28 TMPRSS6 TF SLC11A2 HJV HAMP GLRX5

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.75 HBB HBA2 HBA1
2 cellular oxidant detoxification GO:0098869 9.71 HBB HBA2 HBA1
3 response to hydrogen peroxide GO:0042542 9.65 HBB HBA2 HBA1
4 positive regulation of cell death GO:0010942 9.63 HBB HBA2 HBA1
5 bicarbonate transport GO:0015701 9.58 HBB HBA2 HBA1
6 iron-sulfur cluster assembly GO:0016226 9.57 ISCA2 IBA57
7 response to iron ion GO:0010039 9.56 SLC11A2 HAMP
8 copper ion transport GO:0006825 9.55 SLC11A2 CP
9 hydrogen peroxide catabolic process GO:0042744 9.54 HBB HBA2 HBA1
10 multicellular organismal iron ion homeostasis GO:0060586 9.52 SLC11A2 HAMP
11 small molecule metabolic process GO:0044281 9.51 ISCA2 GLRX5
12 iron ion transport GO:0006826 9.5 TF SLC11A2 CP
13 iron ion transmembrane transport GO:0034755 9.49 TF SLC11A2
14 heme biosynthetic process GO:0006783 9.46 SLC25A38 SLC11A2 IBA57 ALAS2
15 porphyrin-containing compound metabolic process GO:0006778 9.43 SLC11A2 ALAS2
16 oxygen transport GO:0015671 9.43 HBB HBA2 HBA1
17 iron ion homeostasis GO:0055072 9.43 TMPRSS6 TF STEAP3 SLC11A2 HJV CP
18 cellular iron ion homeostasis GO:0006879 9.23 TMPRSS6 TF SLC11A2 HJV HAMP CP

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 9.61 HBB HBA2 HBA1
2 iron ion binding GO:0005506 9.58 ISCA2 HBA2 HBA1
3 peroxidase activity GO:0004601 9.5 HBB HBA2 HBA1
4 2 iron, 2 sulfur cluster binding GO:0051537 9.46 ISCA2 GLRX5
5 oxygen binding GO:0019825 9.43 HBB HBA2 HBA1
6 transferrin receptor binding GO:1990459 9.37 TF HJV
7 oxygen carrier activity GO:0005344 9.33 HBB HBA2 HBA1
8 organic acid binding GO:0043177 9.13 HBB HBA2 HBA1
9 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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