[New causes of microcytic anaemia: hereditary disorders of iron homeostasis].
Recently various new gene defects have been identified which explain some previously unknown causes of inherited microcytic anaemias. These defects are located in genes that encode for the cellular iron importing protein Divalent Metal Transporter 1 (DMT1), the iron exporting protein ferroportin, the mitochondrial enzyme glutaredoxin-5 and the hepatocyte membrane protein matriptase-2.
van Rooijen
Karlijn L
KL
Universitair Medisch Centrum St. Radboud, Afd. Hematologie, Nijmegen, the Netherlands.
Raymakers
Reinier A P
RA
Cuijpers
Marloes L H
ML
Brons
Paul P T
PP
Janssen
Mirian C H
MC
Swinkels
Dorine W
DW
D000740:Anemia / Q000235:genetics* / Q000378:metabolism; D027682:Cation Transport Proteins / Q000235:genetics* / Q000378:metabolism; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism; D054477:Glutaredoxins / Q000235:genetics / Q000378:metabolism; D006706:Homeostasis / Q000502:physiology; D006801:Humans; D007501:Iron / Q000378:metabolism*; D008565:Membrane Proteins / Q000235:genetics / Q000378:metabolism; D012697:Serine Endopeptidases / Q000235:genetics / Q000378:metabolism; D000098742:Ferroportin; D000099236:Solute Carrier Family 11, Member 2
D027682:Cation Transport Proteins; D054477:Glutaredoxins; D007501:Iron; D008565:Membrane Proteins; D012697:Serine Endopeptidases; D000098742:Ferroportin; D000099236:Solute Carrier Family 11, Member 2; C467801:matriptase 2