KEGG   DISEASE: Hypochromic microcytic anemia
Entry
H01196                      Disease                                
Name
Hypochromic microcytic anemia
  Subgroup
Anemia, hypochromic microcytic, with iron overload (AHMIO)
Description
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.
Category
Hematologic disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 03 Diseases of the blood or blood-forming organs
  Anaemias or other erythrocyte disorders
   Nutritional or metabolic anaemias
    3A00  Iron deficiency anaemia
     H01196  Hypochromic microcytic anemia
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06525  Ferroptosis
   H01196  Hypochromic microcytic anemia
Pathway
hsa04216  Ferroptosis
hsa04115  p53 signaling pathway
hsa04978  Mineral absorption
Network
nt06525 Ferroptosis
Gene
(AHMIO1) SLC11A2 [HSA:4891] [KO:K21398]
(AHMIO2) STEAP3 [HSA:55240] [KO:K10142]
Other DBs
ICD-11: 3A00.Y
ICD-10: D50.8
OMIM: 206100 615234
Reference
PMID:15459009 (SLC11A2)
  Authors
Mims MP, Guan Y, Pospisilova D, Priwitzerova M, Indrak K, Ponka P, Divoky V, Prchal JT
  Title
Identification of a human mutation of DMT1 in a patient with microcytic anemia and iron overload.
  Journal
Blood 105:1337-42 (2005)
DOI:10.1182/blood-2004-07-2966
Reference
PMID:22031863 (STEAP3)
  Authors
Grandchamp B, Hetet G, Kannengiesser C, Oudin C, Beaumont C, Rodrigues-Ferreira S, Amson R, Telerman A, Nielsen P, Kohne E, Balser C, Heimpel H
  Title
A novel type of congenital hypochromic anemia associated with a nonsense mutation in the STEAP3/TSAP6 gene.
  Journal
Blood 118:6660-6 (2011)
DOI:10.1182/blood-2011-01-329011
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