Severe hypochromic microcytic anemia caused by a congenital defect of the iron transport pathway in erythroid cells [2]

Blood

Volumn 103, Issue 10, 2004, Pages 3991-3992

  Priwitzerova, Monika ^c   Pospisilova, Dagmar ^c   Prchal, Josef T ^c   Indrak, Karel ^c   Hloblikova, Alice ^c   Mlhal, Vladimir ^c   Ponka, Prem ^a   Divoky, Vladimir ^b  

^a MCGILL UNIVERSITY   (Canada)

^b PALACKÝ UNIVERSITY   (Czech Republic)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; IRON; NATURAL RESISTANCE ASSOCIATED MACROPHAGE PROTEIN 2; TRANSFERRIN RECEPTOR;

ADULT; BURST FORMING UNIT E; CASE REPORT; ERYTHROID CELL; FEMALE; HUMAN; HUMAN CELL; IRON BINDING CAPACITY; IRON DEFICIENCY ANEMIA; IRON KINETICS; IRON TRANSPORT; LETTER; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

EID: 2342447226     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood-2004-01-0225     Document Type: Letter

References (8)

1. Fleming MD, Trenor CC III, Su MA, et al. Microcytic anaemia mice have a mutation in Nremp2, a candidate iron transporter gene. Nat Genet. 1997;16:383-386.
2. Fleming MD, Romano MA, Su MA, Garrick LM, Garrick MD, Andrews NC. Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport. Proc Natl Acad Sci U S A. 1998;95:148-153.
3. Garrick LM, Gniecko K, Hoke JE, al-Nakeeb A, Ponka P, Garrick MO. Ferric-salicylaldehyde isonicotinoyl hydrazone, a synthetic iron chelate, alleviates defective iron utilization by reticulocytes of the Belgrade rat. J Cell Physiol. 1991; 146:460-465.
4. Ponka P, Schulman HM. Acquisition of iron from transferrin regulates reticulocyte heme synthesis. J Biol Chem. 1985;260:14717-14721.
5. Sokol L, Luhovy M, Guan Y, Prchal JF, Semenza GL, Prchal JT. Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin. Blood. 1995;86: 15-22.
6. Bannerman RM. Quantitative aspects of hemoglobin-iron absorption. J Lab Clin Med. 1965;85:944-950.
7. Grasbeck R, Majuri R, Kouvonen I, Tenhunen R. Spectral and other studies on the intestinal haem receptor of the pig. Biochim Biophys Acta. 1982;700:137-142.
8. Worthington MT, Cohn SM, Miller SK, Luo RQ, Berg CL. Characterization of a human plasma membrane heme transporter in intestinal and hepatocyte cell lines. Am J Physiol Gastrointest Liver Physiol. 2001;280:G1172-G1177.