MCID: HYP001
MIFTS: 37

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 anemia, hypochromic microcytic, with iron overload 2. 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 drug Iron has been mentioned in the context of this disorder. Affiliated tissues include liver, lymph node and heart, 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 83)
# Related Disease Score Top Affiliating Genes
1 hypochromic microcytic anemia with iron overload 33.2 STEAP3-AS1 STEAP3 SLC11A2
2 anemia, hypochromic microcytic, with iron overload 2 32.8 STEAP3-AS1 STEAP3
3 iron-refractory iron deficiency anemia 32.8 TMPRSS6 HJV
4 anemia, sideroblastic, and spinocerebellar ataxia 31.0 SLC25A38 GLRX5 ALAS2 ACO1
5 thalassemia 31.0 HBB HBA2 HBA1
6 rare hereditary hemochromatosis 30.4 TF HJV HAMP
7 hemosiderosis 30.2 TF SLC11A2 HJV HAMP CP
8 hemolytic anemia 29.8 TFRC TF HBB HBA2 HBA1
9 alpha-thalassemia 29.8 TFRC HBB HBA2 HBA1 HAMP
10 atransferrinemia 29.6 TMPRSS6 TFRC TF SLC11A2 HJV HAMP
11 iron deficiency anemia 29.5 TMPRSS6 TFRC TF SLC11A2 HJV HBA1
12 anemia, sideroblastic, 1 29.1 TFRC STEAP3 SLC25A38 SLC11A2 IREB2 HJV
13 iron metabolism disease 28.7 TMPRSS6 TFRC TF SLC11A2 IREB2 HJV
14 protoporphyria, erythropoietic, 1 28.6 TFRC SLC25A38 IREB2 GLRX5 ALAS2 ACO1
15 sideroblastic anemia 28.4 SLC25A38 IREB2 HAMP GLRX5 ALAS2 ACO1
16 beta-thalassemia 28.0 TMPRSS6 TFRC TF IREB2 HJV HBB
17 deficiency anemia 27.5 TMPRSS6 TFRC TF STEAP3 SLC25A38 SLC11A2
18 microcytic anemia 27.0 TMPRSS6 TFRC TF STEAP3-AS1 STEAP3 SLC25A38
19 anemia, hypochromic microcytic, with iron overload 1 11.4
20 fetal hemoglobin quantitative trait locus 1 11.3
21 majeed syndrome 11.2
22 celiac disease 1 10.3
23 alpha-thalassemia/mental retardation syndrome, chromosome 16-related 10.3 HBA2 HBA1
24 hemoglobin zurich 10.2 HBB HBA2
25 immune hydrops fetalis 10.2 HBA2 HBA1
26 alpha thalassemia-intellectual disability syndrome type 1 10.2 HBA2 HBA1
27 erythrocytosis, familial, 7 10.2 HBA2 HBA1
28 thalassemia minor 10.2 HBB HBA2
29 hypoglycemic coma 10.2 HBA2 HBA1
30 type 1 diabetes mellitus 24 10.2 HBA2 HBA1
31 glutathione peroxidase deficiency 10.1 HBB HBA2 HBA1
32 methemoglobinemia, beta-globin type 10.1 HBB HBA2 HBA1
33 hydrocephalus, congenital, 1 10.1
34 autosomal recessive disease 10.1
35 colorectal adenoma 10.1
36 nephrotic syndrome 10.1
37 pica disease 10.1
38 male infertility 10.1
39 bilirubin metabolic disorder 10.1
40 glomerulonephritis 10.1
41 purpura 10.1
42 systemic scleroderma 10.1
43 uremia 10.1
44 proliferative glomerulonephritis 10.1
45 infertility 10.1
46 adenoma 10.1
47 evans' syndrome 10.1
48 splenomegaly 10.1
49 eales disease 10.1 TF CP
50 folic acid deficiency anemia 10.1 TFRC HAMP

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 hematopoietic system MP:0005397 10 ALAS2 CP HBA2 HJV IREB2 LPIN2
2 homeostasis/metabolism MP:0005376 9.93 ACO1 ALAS2 CP HBA2 HJV IREB2
3 integument MP:0010771 9.56 ALAS2 HBA2 HJV IREB2 SLC11A2 TF
4 liver/biliary system MP:0005370 9.23 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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iron Approved 7439-89-6 23925 29936

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
Liver, Lymph Node, Heart, Bone Marrow, Kidney, Lung, Eye

Publications for Hypochromic Microcytic Anemia

Articles related to Hypochromic Microcytic Anemia:

(show top 50) (show all 514)
# Title Authors PMID Year
1
Studies of a naturally occurring sulfur-induced copper deficiency in Przewalski's gazelles. 61 54
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. 61 54
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. 54 61
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. 61 54
1862777 1991
13
Positive Effect of Helicobacter pylori Treatment on Outcome of Patients With Chronic Spontaneous Urticaria. 61
32940336 2021
14
[A case with α-thalassemia caused by novel start codon variant in conjunct with right deletion variant of α2-globin gene]. 61
33423249 2021
15
Differential diagnosis of thalassemia and iron deficiency anemia in pregnant women using new formulas from multidimensional analysis of red blood cells. 61
33569443 2021
16
Anemia in tuberculosis cases: A biomarker of severity? 61
33529195 2021
17
[Iron deficiency in adults : to understand what biological evaluation should be carried out]. 61
33331703 2020
18
Incidental Diagnosis of Adult Beta-Thalassemia With Point-of-Care Ultrasound in the Emergency Department: A Case Report. 61
33447492 2020
19
Diagnosis and management of iron deficiency in chronic inflammatory conditions (CIC): is too little iron making your patient sick? 61
33275757 2020
20
Genetic diagnosis history and osteoarticular phenotype of a non-transfusion secondary hemochromatosis. 61
33344595 2020
21
[Hematological Analysis and Diagnosis of Two Rare Abnormal Hemoglobin]. 61
33283737 2020
22
Analysis of rare thalassemia caused by HS-40 regulatory site deletion. 61
32720864 2020
23
Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis. 61
32623341 2020
24
Heterozygosity for the Novel HBA2: c.*91_*92delTA Polyadenylation Site Variant on the α2-Globin Gene Expanding the Genetic Spectrum of α-Thalassemia in Iran. 61
33054440 2020
25
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
26
Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38. 61
32790119 2020
27
Role of Hematological Indices as a Screening Tool of Beta Thalassemia Trait in Eastern Uttar Pradesh: An Institutional Study. 61
33100716 2020
28
A Reliable Auto-Robust Analysis of Blood Smear Images for Classification of Microcytic Hypochromic Anemia Using Gray Level Matrices and Gabor Feature Bank. 61
33286809 2020
29
Hematological and immunological responses in the African catfish Clarias gairepinus exposed to sublethal concentrations of herbicide Ronstar®. 61
32544747 2020
30
Novel α0-Thalassemia Deletion Identified in an Indian Infant with Hb H Disease. 61
32722952 2020
31
Hemoglobin variants in southern China: results obtained during the measurement of glycated hemoglobin in a large population. 61
32687481 2020
32
Laboratory approach to investigation of anemia with a focus on pyruvate kinase deficiency. 61
32543069 2020
33
Mothball ingestion as a manifestation of pica, leading to paradichlorobenzene CNS toxicity. 61
33163061 2020
34
Mutation in the SLC29A3 Gene in an Egyptian Patient with H Syndrome: A Case Report and Review of Literature. 61
32341814 2020
35
A Zebra at the Rodeo: Dyspnea, Hematuria, and a Family History of Arthritis. 61
32598558 2020
36
Whipple disease diagnosed by enteroscopy: first case report in Colombia of an underdiagnosed disease and literature review. 61
32576148 2020
37
Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model. 61
31990410 2020
38
Pretreatment thrombocytosis as an independent predictive factor for chemoresistance and poor survival in epithelial ovarian cancer. 61
32375852 2020
39
Nephrectomy Does not Exacerbate Cancellous Bone loss in Thalassemic Mice. 61
32385316 2020
40
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
41
Clinico-Hematological Findings of Acute Pediatric Visceral Leishmaniasis Referred to the Northeast of Iran during 2005-2015. 61
32595711 2020
42
Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects. 61
32181284 2020
43
A novel homozygous nonsense mutation (p.Y78*) in TMPRSS6 gene causing iron-refractory iron deficiency anemia (IRIDA) in two siblings. 61
32253873 2020
44
Pfeifer-Weber-Christian Disease: A Case Report and Review of Literature on Visceral Involvements and Treatment Choices. 61
32528225 2020
45
An Unusual Case of Hypoproteinemia in Childhood: Keep in Mind Trichobezoar. 61
32195212 2020
46
A Novel β-Thalassemia Mutation [IVS-I-6 (T>G), HBB: c.92+6T>G] in a Chinese Family. 61
31939318 2020
47
Alpha-globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran. 61
31478238 2020
48
A case report of diffuse hyperplastic gastropathy with multiple polypoid formations in a patient with pernicious anemia, Helicobacter pylori infection, hypergastrinemia and hypoalbuminaemia: Do not forget of Ménétrier's disease. 61
33395833 2020
49
Importance of Extraintestinal Manifestations in Early Diagnosis of Gardner Syndrome. 61
32832171 2020
50
Host Genetics Background Influence in the Intragastric Trypanosoma cruzi Infection. 61
33329529 2020

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 10.02 TMPRSS6 TFRC TF HJV HBB HBA2
2 endosome membrane GO:0010008 9.71 TFRC TF STEAP3 SLC11A2
3 recycling endosome GO:0055037 9.63 TFRC TF SLC11A2
4 endocytic vesicle lumen GO:0071682 9.5 HBB HBA2 HBA1
5 basal part of cell GO:0045178 9.43 TF SLC11A2
6 hemoglobin complex GO:0005833 9.43 HBB HBA2 HBA1
7 haptoglobin-hemoglobin complex GO:0031838 9.33 HBB HBA2 HBA1
8 HFE-transferrin receptor complex GO:1990712 9.13 TFRC TF HJV
9 blood microparticle GO:0072562 9.1 TFRC TF HBB HBA2 HBA1 CP

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

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 receptor-mediated endocytosis GO:0006898 9.78 TFRC HBB HBA2 HBA1
2 cellular oxidant detoxification GO:0098869 9.74 HBB HBA2 HBA1
3 response to hydrogen peroxide GO:0042542 9.71 HBB HBA2 HBA1
4 positive regulation of cell death GO:0010942 9.7 HBB HBA2 HBA1
5 bicarbonate transport GO:0015701 9.63 HBB HBA2 HBA1
6 erythrocyte development GO:0048821 9.61 SLC11A2 ALAS2
7 transferrin transport GO:0033572 9.61 TFRC TF STEAP3
8 positive regulation of bone resorption GO:0045780 9.6 TFRC TF
9 response to iron ion GO:0010039 9.59 SLC11A2 HAMP
10 copper ion transport GO:0006825 9.58 SLC11A2 CP
11 intestinal absorption GO:0050892 9.58 IREB2 ACO1
12 osteoclast differentiation GO:0030316 9.58 TFRC TF IREB2
13 protoporphyrinogen IX biosynthetic process GO:0006782 9.56 IREB2 ALAS2
14 iron ion homeostasis GO:0055072 9.56 TMPRSS6 TF STEAP3 SLC11A2 IREB2 HJV
15 multicellular organismal iron ion homeostasis GO:0060586 9.55 SLC11A2 HAMP
16 iron ion transport GO:0006826 9.55 TFRC TF SLC11A2 IREB2 CP
17 hydrogen peroxide catabolic process GO:0042744 9.54 HBB HBA2 HBA1
18 porphyrin-containing compound metabolic process GO:0006778 9.51 SLC11A2 ALAS2
19 heme biosynthetic process GO:0006783 9.5 SLC25A38 SLC11A2 ALAS2
20 citrate metabolic process GO:0006101 9.49 IREB2 ACO1
21 oxygen transport GO:0015671 9.43 HBB HBA2 HBA1
22 cellular iron ion homeostasis GO:0006879 9.32 TMPRSS6 TFRC TF SLC11A2 IREB2 HJV

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 iron-sulfur cluster binding GO:0051536 9.61 IREB2 GLRX5 ACO1
3 peroxidase activity GO:0004601 9.58 HBB HBA2 HBA1
4 oxygen binding GO:0019825 9.5 HBB HBA2 HBA1
5 transferrin receptor binding GO:1990459 9.46 TF HJV
6 aconitate hydratase activity GO:0003994 9.37 IREB2 ACO1
7 oxygen carrier activity GO:0005344 9.33 HBB HBA2 HBA1
8 iron-responsive element binding GO:0030350 9.26 IREB2 ACO1
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
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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