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 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 Iron Supplement and Lactoferrin have been mentioned in the context of this disorder. Affiliated tissues include kidney, liver and bone, and related phenotypes are hematopoietic system and homeostasis/metabolism

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 34.8 STEAP3-AS1 STEAP3 SLC11A2
2 iron-refractory iron deficiency anemia 33.6 TMPRSS6 HJV
3 anemia, sideroblastic, and spinocerebellar ataxia 31.5 SLC25A38 ALAS2 ACO1
4 alpha-thalassemia 29.9 TFRC HBB HBA2 HBA1
5 hemolytic anemia 29.9 TFRC TF HBB HBA2 HBA1
6 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 28.9 TFRC TFR2 TF SLC11A2 HJV HBB
7 atransferrinemia 28.8 TMPRSS6 TFRC TFR2 TF SLC11A2 HJV
8 thalassemia 28.7 TMPRSS6 TFRC TFR2 TF HJV HBB
9 iron deficiency anemia 28.6 TMPRSS6 TFRC TFR2 TF SLC11A2 HJV
10 protoporphyria, erythropoietic, 1 28.6 TFRC SLC25A38 IREB2 ALAS2 ACO1
11 anemia, sideroblastic, 1 27.8 TMPRSS6 TFRC TFR2 STEAP3 SLC25A38 SLC11A2
12 hemosiderosis 27.3 TFRC TFR2 TF SLC11A2 IREB2 HJV
13 iron metabolism disease 27.3 TMPRSS6 TFRC TFR2 TF SLC11A2 IREB2
14 sideroblastic anemia 27.0 TFRC TFR2 SLC25A38 IREB2 HJV HAMP
15 beta-thalassemia 26.9 TMPRSS6 TFRC TFR2 TF IREB2 HJV
16 microcytic anemia 26.5 TMPRSS6 TFRC TFR2 TF STEAP3-AS1 STEAP3
17 deficiency anemia 26.1 TMPRSS6 TFRC TFR2 TF STEAP3 SLC25A38
18 anemia, hypochromic microcytic, with iron overload 1 11.9
19 anemia, hypochromic microcytic, with iron overload 2 11.9
20 fetal hemoglobin quantitative trait locus 1 11.8
21 majeed syndrome 11.5
22 celiac disease 1 10.4
23 splenomegaly 10.4
24 rare hereditary hemochromatosis 10.4
25 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.3 HBA2 HBA1
26 hemoglobin zurich 10.3 HBB HBA2
27 erythrocytosis, familial, 7 10.2 HBA2 HBA1
28 colorectal cancer 10.2
29 autosomal recessive disease 10.2
30 colorectal adenoma 10.2
31 nephrotic syndrome 10.2
32 pica disease 10.2
33 male infertility 10.2
34 bilirubin metabolic disorder 10.2
35 glomerulonephritis 10.2
36 purpura 10.2
37 systemic scleroderma 10.2
38 uremia 10.2
39 proliferative glomerulonephritis 10.2
40 infertility 10.2
41 adenoma 10.2
42 chronic kidney disease 10.2
43 evans' syndrome 10.2
44 alpha thalassemia-intellectual disability syndrome type 1 10.2 HBA2 HBA1
45 glutathione peroxidase deficiency 10.2 HBB HBA2 HBA1
46 methemoglobinemia, beta-globin type 10.2 HBB HBA2 HBA1
47 hydrops fetalis, nonimmune 10.2 HBB HBA2 HBA1
48 erythrocytosis, familial, 8 10.2 HBB HBA2 HBA1
49 pyridoxine-responsive sideroblastic anemia 10.1 HBB ALAS2
50 hypoglycemic coma 10.1 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:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 hematopoietic system MP:0005397 10.03 ALAS2 CP HBA2 HJV IREB2 LPIN2
2 homeostasis/metabolism MP:0005376 9.97 ACO1 ALAS2 CP HBA2 HJV IREB2
3 immune system MP:0005387 9.65 CP HJV IREB2 LPIN2 SLC11A2 STEAP3
4 liver/biliary system MP:0005370 9.28 CP HJV IREB2 LPIN2 SLC11A2 STEAP3

Drugs & Therapeutics for Hypochromic Microcytic Anemia

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

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

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, Bone, Lymph Node, Heart, Bone Marrow, Small Intestine

Publications for Hypochromic Microcytic Anemia

Articles related to Hypochromic Microcytic Anemia:

(show top 50) (show all 487)
# 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. 61 54
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. 54 61
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. 61 54
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. 54 61
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. 61 54
1862777 1991
13
Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature. 61
32341814 2020
14
Laboratory approach to investigation of anemia with a focus on pyruvate kinase deficiency. 61
32543069 2020
15
Application of HbA2 levels and red cell indices-based new model in the differentiation of thalassemia traits from iron deficiency in hypochromic microcytic anemia Cases. 61
32564505 2020
16
Whipple disease diagnosed by enteroscopy: first case report in Colombia of an underdiagnosed disease and literature review. 61
32576148 2020
17
Hematological and immunological responses in the African catfish Clarias gairepinus exposed to sublethal concentrations of herbicide Ronstar®. 61
32544747 2020
18
Nephrectomy Does not Exacerbate Cancellous Bone loss in Thalassemic Mice. 61
32385316 2020
19
Pretreatment thrombocytosis as an independent predictive factor for chemoresistance and poor survival in epithelial ovarian cancer. 61
32375852 2020
20
Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model. 61
31990410 2020
21
Haplotype Analysis in Carriers of β-Globin Gene Mutation Facilitates Genetic Counseling in β-Thalassemia: A Cross-Sectional Study in Kerman Province, Iran. 61
32548060 2020
22
Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects. 61
32181284 2020
23
An Unusual Case of Hypoproteinemia in Childhood: Keep in Mind Trichobezoar. 61
32195212 2020
24
Pfeifer-Weber-Christian Disease: A Case Report and Review of Literature on Visceral Involvements and Treatment Choices. 61
32528225 2020
25
A Novel β-Thalassemia Mutation [IVS-I-6 (T>G), HBB: c.92+6T>G] in a Chinese Family. 61
31939318 2020
26
Alpha-globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran. 61
31478238 2020
27
Prevalence of Anemia and Its Associated Socio-Demographic Factors Among Pregnant Women Attending an Antenatal Care Clinic at Kisugu Health Center IV, Makindye Division, Kampala, Uganda. 61
32021527 2020
28
Correlation of Cardiac and Liver Iron Level with T2*MRI and Vitamin D3 Serum Level in Patients with Thalassemia Major. 61
32210653 2020
29
A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings. 61
32253873 2020
30
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
31
Sub-chronic exposure to Kalach 360 SL-induced damage in rats' liver and hematological system. 61
31732955 2019
32
A Rare Case of Plummer-Vinson Syndrome. 61
32025392 2019
33
Heme-regulated eIF2α kinase in erythropoiesis and hemoglobinopathies. 61
31554636 2019
34
ThalPred: a web-based prediction tool for discriminating thalassemia trait and iron deficiency anemia. 61
31699079 2019
35
[Clinical and genetic analysis of a patient with Hb Ottawa in conjunction with β -thalassemia]. 61
31703143 2019
36
[Phenotype Analysis of 78 Cases of Abnormal Hemoglobin E Homozygotes]. 61
31607315 2019
37
A 50-Year-Old Woman With Uterine Myomatosis, Rapidly Progressive Dyspnea, and Lower Extremity Edema. 61
31511163 2019
38
Presentation of Compound Heterozygous Hemoglobin Constant Spring and Hemoglobin Pakse in Neonates. 61
30615015 2019
39
Reticulocyte Hemoglobin Equivalent (Ret-He) Combined with Red Blood Cell Distribution Width Has a Differentially Diagnostic Value for Thalassemias. 61
31476929 2019
40
Iron Refractory Iron Deficiency Anemia Due to 374 Base Pairs Deletion in the TMPRSS6 Gene. 61
30130276 2019
41
NCOA4 maintains murine erythropoiesis via cell autonomous and non-autonomous mechanisms. 61
30630985 2019
42
Clinical and therapeutic aspects of an outbreak of canine trypanosomiasis. 61
31188944 2019
43
Causes of Hypochromic Microcytic Anemia in Children and Evaluation of Laboratory Parameters in the Differentiation. 61
30557168 2019
44
Clinical Case of Parvovirus B19 Infection in Pregnant Woman with Β-Thalassemia in Bulgaria. 61
31115230 2019
45
An Incidental Finding of Anemia: Rectal Adenocarcinoma in a Young Adult. 61
31275778 2019
46
A case of ectopic pancreas in the ileum presenting as obscure gastrointestinal bleeding and abdominal pain. 61
30995913 2019
47
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
48
Distinguishing iron deficiency anemia from thalassemia by the red blood cell lifespan with a simple CO breath test: a pilot study. 61
30641506 2019
49
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
50
Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia. 61
30632057 2019

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 10.06 TMPRSS6 TFRC TF HJV HBB HBA2
2 endosome membrane GO:0010008 9.73 TFRC TF STEAP3 SLC11A2
3 recycling endosome GO:0055037 9.65 TFRC TF SLC11A2
4 blood microparticle GO:0072562 9.63 TFRC TF HBB HBA2 HBA1 CP
5 endocytic vesicle lumen GO:0071682 9.54 HBB HBA2 HBA1
6 hemoglobin complex GO:0005833 9.5 HBB HBA2 HBA1
7 basal part of cell GO:0045178 9.46 TF SLC11A2
8 haptoglobin-hemoglobin complex GO:0031838 9.43 HBB HBA2 HBA1
9 cell GO:0005623 9.36 TMPRSS6 TFRC TFR2 TF SLC11A2 IREB2
10 HFE-transferrin receptor complex GO:1990712 9.26 TFRC TFR2 TF HJV

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

(show all 24)
# Name GO ID Score Top Affiliating Genes
1 cellular oxidant detoxification GO:0098869 9.77 HBB HBA2 HBA1
2 response to hydrogen peroxide GO:0042542 9.72 HBB HBA2 HBA1
3 receptor-mediated endocytosis GO:0006898 9.72 TFRC TFR2 HBB HBA2 HBA1
4 positive regulation of cell death GO:0010942 9.71 HBB HBA2 HBA1
5 bicarbonate transport GO:0015701 9.67 HBB HBA2 HBA1
6 osteoclast differentiation GO:0030316 9.65 TFRC TF IREB2
7 hydrogen peroxide catabolic process GO:0042744 9.63 HBB HBA2 HBA1
8 iron ion transport GO:0006826 9.63 TFRC TFR2 TF SLC11A2 IREB2 CP
9 erythrocyte development GO:0048821 9.62 SLC11A2 ALAS2
10 positive regulation of bone resorption GO:0045780 9.61 TFRC TF
11 copper ion transport GO:0006825 9.61 SLC11A2 CP
12 heme biosynthetic process GO:0006783 9.61 SLC25A38 SLC11A2 ALAS2
13 intestinal absorption GO:0050892 9.6 IREB2 ACO1
14 multicellular organismal iron ion homeostasis GO:0060586 9.58 SLC11A2 HAMP
15 iron ion transmembrane transport GO:0034755 9.58 TF SLC11A2
16 response to iron ion GO:0010039 9.58 TFR2 SLC11A2 HAMP
17 protoporphyrinogen IX biosynthetic process GO:0006782 9.57 IREB2 ALAS2
18 cellular response to iron ion GO:0071281 9.56 TFR2 TF
19 transferrin transport GO:0033572 9.56 TFRC TFR2 TF STEAP3
20 iron ion homeostasis GO:0055072 9.56 TMPRSS6 TFR2 TF STEAP3 SLC11A2 IREB2
21 oxygen transport GO:0015671 9.54 HBB HBA2 HBA1
22 porphyrin-containing compound metabolic process GO:0006778 9.52 SLC11A2 ALAS2
23 citrate metabolic process GO:0006101 9.51 IREB2 ACO1
24 cellular iron ion homeostasis GO:0006879 9.36 TMPRSS6 TFRC TFR2 TF SLC11A2 IREB2

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 9.65 HBB HBA2 HBA1
2 peroxidase activity GO:0004601 9.61 HBB HBA2 HBA1
3 oxygen binding GO:0019825 9.54 HBB HBA2 HBA1
4 transferrin receptor binding GO:1990459 9.46 TF HJV
5 aconitate hydratase activity GO:0003994 9.4 IREB2 ACO1
6 oxygen carrier activity GO:0005344 9.33 HBB HBA2 HBA1
7 iron-responsive element binding GO:0030350 9.32 IREB2 ACO1
8 transferrin receptor activity GO:0004998 9.26 TFRC TFR2
9 organic acid binding GO:0043177 9.13 HBB HBA2 HBA1
10 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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