Heterozygosity for the C282Y mutation in the hemochromatosis gene is associated with increased serum iron, transferrin saturation, and hemoglobin in young women: A protective role against iron deficiency?

Clinical Chemistry

Volumn 44, Issue 12, 1998, Pages 2429-2432

  Datz, Christian ^a   Haas, Thomas ^a   Rinner, Heinrich ^b   Sandhofer, Friedrich ^a   Patsch, Wolfgang ^a   Paulweber, Bernhard ^a  

^a St Johanns Spital   (Austria)

^b UNIVERSITY OF INNSBRUCK   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; FERRITIN; HEMOGLOBIN; IRON; TRANSFERRIN;

ADULT; ARTICLE; BLOOD CELL COUNT; CODON; FEMALE; FERRITIN BLOOD LEVEL; GENE MUTATION; GENOTYPE; HEMOCHROMATOSIS; HETEROZYGOSITY; HUMAN; IRON BLOOD LEVEL; IRON DEFICIENCY; MAJOR CLINICAL STUDY; TRANSFERRIN BLOOD LEVEL;

EID: 0031700041     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/44.12.2429     Document Type: Article

References (21)

1. Borch-Iohnsen B, Meltzer HM, Stenberg V, Reinskou T. Iron status in a group of menstruating women. Eur J Clin Nutr 1990;44:23-8.
2. Looker AC, Dallman PR, Carroll MS, Gunter EW, Johnson CL. Prevalence of iron deficiency in the United States. JAMA 1997;277:973-6.
3. Yehuda S, Youdim MB. Brain iron: a lesson from animal models. Am J Clin Nutr 1989;50:618-29.
4. Youdim MB, Ben Shachar D, and Yehuda S. Putative biological mechanisms of the effect of iron deficiency on brain chemistry and behavior. Am J Clin Nutr 1989;50:607-17.
5. Palti H, Peusner B, Adler B. Does anaemia in infancy affect achievement on developmental and intelligence tests? Hum Biol 1983;55:189-94.
6. Dallman PR. Iron deficiency: does it matter? J Intern Med 1989; 226:367-72.
7. Cook JD, Lynch SR. The liabilities of iron deficiency. Blood 1986;68:803-9.
8. Beard JL, Borel MJ, Derr J. Impaired thermoregulation and thyroid function in iron deficiency anemia. Am J Clin Nutr 1990;52:813-9.
9. Scholl TO, Hediger ML, Fischer RL, Shearer JW. Anemia vs. iron deficiency: increased risk of preterm delivery in a prospective study. Am J Clin Nutr 1992;55:985-8.
10. De Maeyer E, Adiels-Tegman M. The prevalence of anaemia in the world. World Health Stat Q 1985;38:302-16.
11. Leggett BA, Halliday JW, Brown NN, Bryant S, Powell LW. Prevalence of hemochromatosis amongst asymptomatic Australians. Br J Haematol 1990;74:525-30.
12. Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, et al. A novel MHC class I-like gene is mutated in patients with hereditary hemochromatosis. Nat Genet 1996;13:399-408.
13. Beutler E, Gelbart T, West C, Lee P, Adams M, Blackstone R, et al. Mutation analysis in hereditary hemochromatosis. Blood Cell Mol Dis 1996;22:187-94.
14. Jazwinska EC, Cullen LM, Busfield F, Pyper WR, Webb SI, Powell LW, et al. Hemochromatosis and HLA-H. Nat Genet 1996;14:249-51.
15. Jouanolle AM, Gandon G, Jezequel P, Blayau M, Campion ML, Yaouang J, et al. Hemochromatosis and HLA-H. Nat Genet 1996;14:251-2.
16. Carella M, D'Ambrosio L, Tolara A, Grifo A, Valentino MA, Piperno A, et al. Mutation analysis of the HLA-H gene in Italian hemochromatosis patients. Am J Hum Genet 1997; 60:828-32.
17. Datz C, Lalloz MRA, Vogel W, Graziadei I, Hackl F, Vautier G, et al. Predominance of the HLA-H gene mutations in Austrian patients with genetic hemochromatosis. J Hepatol 1997;27:773-9.
18. Jazwinska EC, Pyper WR, Burt MJ, Francis JL, Goldwurm SI, Webb SI, et al. Haplotype analysis in Australian hemochromatosis patients-evidence for a predominant ancestral haplotype exclusively associated with hemochromatosis. Am J Hum Genet 1995;56:428-33.
19. Bulaj ZJ,Griffen LM, Jorde LB, Edwards CQ, Kushner JP. Clinical and biochemical abnormalities in people heterozygous for hemochromatosis. N Engl J Med 1996;335:1799-805.
20. Powell LW, Jazwinska EC. Hemochromatosis in heterozygotes. N Engl J Med 1996;335:1837-9.
21. Feder JN, Penny PM, Irrinka A, Lee VK, Lebron JA, Watson N, et al. The hemochromatosis gene product complexes with the transferrin receptor and lowers its affinity for ligand binding. Proc Natl Acad Sci U S A 1998;95:1472-7.