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HFE genotype and parameters of iron metabolism in German first-time blood donors - evidence for an increased transferrin saturation in C282Y heterozygotes.
Z Gastroenterol. 2003 Nov; 41(11):1069-76.ZG

Abstract

BACKGROUND

Hemochromatosis is usually inherited in an autosomal recessive mode and associated with missense mutations in the hemochromatosis gene (HFE), an HLA class 1 related gene. However the degree of penetrance is presently matter of debate.

METHODS

To elucidate the frequency of HFE mutations in a German population and the relationship between genotype and phenotype, we determined the HFE C282Y and H63D genotypes in 500 first-time blood donors using an allele-specific ligase chain reaction (LCR). Ferritin and transferrin saturation (TS) of all donors found to have at least one mutation were compared to gender- and age-matched controls.

RESULTS

The C282Y allele frequency was 46 in 1000 chromosomes (4.6 %). The allele frequency of H63D was 108 in 1000 (10.8 %) chromosomes. We found three persons homozygous for H63D, nine compound heterozygotes and none homozygous for C282Y. TS was elevated in C282Y heterozygotes (p = 0.002) and C282Y/H63D compound heterozygotes (p = 0.04) compared to wild-type controls. Serum ferritin tended to be elevated in compound heterozygotes (p = 0.053). Mean corpuscular volume (MCV) and hemoglobin (MCH) were not different from controls.

CONCLUSION

The frequency of HFE mutations in the tested population was comparable to those of other northern European populations. The elevated TS in subjects carrying a single copy of the C282Y mutation suggests that C282Y heterozygosity is associated with an increased intestinal iron absorption and might therefore offer a selection advantage in conditions of iron depletion.

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Authors+Show Affiliations

Raddatz D
Dept. of Gastroenterology and Endocrinology, Göttingen.
Legler T
No affiliation info available
Lynen R
No affiliation info available
Addicks N
No affiliation info available
Ramadori G
No affiliation info available

MeSH

AllelesBlood DonorsData Interpretation, StatisticalFemaleFerritinsGenetic TestingGenotypeGermanyHemochromatosisHemochromatosis ProteinHeterozygoteHistocompatibility Antigens Class IHomozygoteHumansIronMaleMembrane ProteinsMutationMutation, MissensePhenotypeTransferrin

Pub Type(s)

Comparative Study
Journal Article

Language

eng

PubMed ID

14648375

Citation

Raddatz, D, et al. "HFE Genotype and Parameters of Iron Metabolism in German First-time Blood Donors - Evidence for an Increased Transferrin Saturation in C282Y Heterozygotes." Zeitschrift Fur Gastroenterologie, vol. 41, no. 11, 2003, pp. 1069-76.
Raddatz D, Legler T, Lynen R, et al. HFE genotype and parameters of iron metabolism in German first-time blood donors - evidence for an increased transferrin saturation in C282Y heterozygotes. Z Gastroenterol. 2003;41(11):1069-76.
Raddatz, D., Legler, T., Lynen, R., Addicks, N., & Ramadori, G. (2003). HFE genotype and parameters of iron metabolism in German first-time blood donors - evidence for an increased transferrin saturation in C282Y heterozygotes. Zeitschrift Fur Gastroenterologie, 41(11), 1069-76.
Raddatz D, et al. HFE Genotype and Parameters of Iron Metabolism in German First-time Blood Donors - Evidence for an Increased Transferrin Saturation in C282Y Heterozygotes. Z Gastroenterol. 2003;41(11):1069-76. PubMed PMID: 14648375.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - HFE genotype and parameters of iron metabolism in German first-time blood donors - evidence for an increased transferrin saturation in C282Y heterozygotes. AU - Raddatz,D, AU - Legler,T, AU - Lynen,R, AU - Addicks,N, AU - Ramadori,G, PY - 2003/12/3/pubmed PY - 2004/3/5/medline PY - 2003/12/3/entrez SP - 1069 EP - 76 JF - Zeitschrift fur Gastroenterologie JO - Z Gastroenterol VL - 41 IS - 11 N2 - BACKGROUND: Hemochromatosis is usually inherited in an autosomal recessive mode and associated with missense mutations in the hemochromatosis gene (HFE), an HLA class 1 related gene. However the degree of penetrance is presently matter of debate. METHODS: To elucidate the frequency of HFE mutations in a German population and the relationship between genotype and phenotype, we determined the HFE C282Y and H63D genotypes in 500 first-time blood donors using an allele-specific ligase chain reaction (LCR). Ferritin and transferrin saturation (TS) of all donors found to have at least one mutation were compared to gender- and age-matched controls. RESULTS: The C282Y allele frequency was 46 in 1000 chromosomes (4.6 %). The allele frequency of H63D was 108 in 1000 (10.8 %) chromosomes. We found three persons homozygous for H63D, nine compound heterozygotes and none homozygous for C282Y. TS was elevated in C282Y heterozygotes (p = 0.002) and C282Y/H63D compound heterozygotes (p = 0.04) compared to wild-type controls. Serum ferritin tended to be elevated in compound heterozygotes (p = 0.053). Mean corpuscular volume (MCV) and hemoglobin (MCH) were not different from controls. CONCLUSION: The frequency of HFE mutations in the tested population was comparable to those of other northern European populations. The elevated TS in subjects carrying a single copy of the C282Y mutation suggests that C282Y heterozygosity is associated with an increased intestinal iron absorption and might therefore offer a selection advantage in conditions of iron depletion. SN - 0044-2771 UR - https://www.unboundmedicine.com/medline/citation/14648375/HFE_genotype_and_parameters_of_iron_metabolism_in_German_first_time_blood_donors___evidence_for_an_increased_transferrin_saturation_in_C282Y_heterozygotes_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/s-2003-44299 DB - PRIME DP - Unbound Medicine ER -