Details of Disease

General Information of Disease (ID: DIS0RMTQ)

Disease Name Hypochromic microcytic anemia
Synonyms hypochromic microcytic anemia (disease); hypochromic microcytic anemia; hypochromic microcytic anaemia (disease)
Definition Anemia in which the circulating RBCs are smaller than the usual size of RBCs (microcytic) and have decreased red color (hypochromic).
Disease Hierarchy
DISMM9CH: Microcytic anemia
:
DISI8W45: Anaemia
DIS0RMTQ: Hypochromic microcytic anemia
Disease Identifiers
MONDO ID
MONDO_0000387
MESH ID
C536357
UMLS CUI
C0271901
MedGen ID
124413
HPO ID
HP:0004840
SNOMED CT ID
44666001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
TF TT8WXAV Limited Biomarker [1]
HBA2 TTQO71U Strong Genetic Variation [2]
SLC11A2 TT2IS7P Strong Genetic Variation [3]
TMPRSS6 TTL9KE7 Strong Genetic Variation [4]
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This Disease Is Related to 8 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CHMP2B OTZA7RJB Disputed Genetic Variation [5]
DMRT1 OT5PU9U1 Disputed Genetic Variation [5]
HBA1 OTW2BQF4 moderate Genetic Variation [2]
IL4I1 OTK54C63 Strong Genetic Variation [6]
IRX5 OT05J514 Strong Biomarker [7]
KLF1 OT1FK08U Strong Genetic Variation [8]
PMCH OT3D9SA4 Strong Biomarker [9]
STEAP3 OTS9GZK5 Strong Genetic Variation [10]
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⏷ Show the Full List of 8 DOT(s)

References

1 Molecular characterization of a case of atransferrinemia.Blood. 2000 Dec 15;96(13):4071-4.
2 Alpha-globin gene mutation spectrum in patients with microcytic hypochromic anemia from Mazandaran Province, Iran.J Clin Lab Anal. 2020 Jan;34(1):e23018. doi: 10.1002/jcla.23018. Epub 2019 Sep 2.
3 DMT1-mutant erythrocytes have shortened life span, accelerated glycolysis and increased oxidative stress.Cell Physiol Biochem. 2014;34(6):2221-31. doi: 10.1159/000369665. Epub 2014 Dec 4.
4 Iron-refractory iron deficiency anemia (IRIDA) cases with 2 novel TMPRSS6 mutations.Pediatr Hematol Oncol. 2016 Apr;33(3):226-32. doi: 10.3109/08880018.2016.1157229. Epub 2016 Apr 27.
5 H(+)-coupled divalent metal-ion transporter-1: functional properties, physiological roles and therapeutics.Curr Top Membr. 2012;70:169-214. doi: 10.1016/B978-0-12-394316-3.00005-3.
6 A 50-Year-Old Woman With Uterine Myomatosis, Rapidly Progressive Dyspnea, and Lower Extremity Edema.Chest. 2019 Sep;156(3):e69-e72. doi: 10.1016/j.chest.2019.05.018.
7 Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. Nat Genet. 2012 May 13;44(6):709-13. doi: 10.1038/ng.2259.
8 Compound heterozygosity for KLF1 mutations is associated with microcytic hypochromic anemia and increased fetal hemoglobin.Eur J Hum Genet. 2015 Oct;23(10):1341-8. doi: 10.1038/ejhg.2014.291. Epub 2015 Jan 14.
9 A case of ectopic pancreas in the ileum presenting as obscure gastrointestinal bleeding and abdominal pain.BMC Gastroenterol. 2019 Apr 17;19(1):57. doi: 10.1186/s12876-019-0971-7.
10 Identification of a Steap3 endosomal targeting motif essential for normal iron metabolism.Blood. 2009 Feb 19;113(8):1805-8. doi: 10.1182/blood-2007-11-120402. Epub 2008 Oct 27.