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 [BR:br08402]
 Cardiovascular diseases
  Hematologic diseases
   H01196  Hypochromic microcytic anemia
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
Related
pathway
hsa04216 Ferroptosis   
hsa04115 p53 signaling pathway   
hsa04978 Mineral absorption   
Gene
(AHMIO1) NRAMP2 [HSA:4891] [KO:K21398]
(AHMIO2) STEAP3 [HSA:55240] [KO:K10142]
Other DBs
ICD-11: 3A00.Y
ICD-10: D50.8
OMIM: 206100 615234
Reference
  Authors
Courville P, Chaloupka R, Cellier MF
  Title
Recent progress in structure-function analyses of Nramp proton-dependent metal-ion transporters.
  Journal
Biochem Cell Biol 84:960-78 (2006)
DOI:10.1139/o06-193
Reference
PMID:9808632
  Authors
Wood RJ, Han O
  Title
Recently identified molecular aspects of intestinal iron absorption.
  Journal
J Nutr 128:1841-4 (1998)
DOI:10.1093/jn/128.11.1841
Reference
  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
LinkDB

» Japanese version

DBGET integrated database retrieval system