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Mutations of the hemochromatosis gene in Italian candidate blood donors with increased transferrin saturation.
Hematol J. 2003; 4(6):436-40.HJ

Abstract

The aim of this study was to analyze the role of HFE mutations in blood donors with iron parameters suggesting iron overload, taking into account the regional distribution of HFE mutations in Italy. We studied 5880 subjects undergoing evaluation for blood donation eligibility, from different areas of Italy. Abnormal iron parameters were defined as transferrin saturation (TS) >50% or >45% and serum ferritin (SF) >300 or >250 microg/ml in males and females, respectively. Subjects with increased TS and/or SF were re-tested and typed for HFE mutations C282Y and H63D. A total of 548 individuals had increased iron parameters at first testing. In total, 179/548 were available for retesting, and in 109 increased TS and/or SF were confirmed. Increased TS was confirmed in 25 individuals, among whom three were C282Y homozygotes and six were compound heterozygotes for C282Y and H63D. Increased TS was more frequent in northern Italy than in southern regions. In individuals with increased TS and/or SF, the frequency of C282Y and H63D was 0.13 and 0.21 in northern-Italy versus 0.05 and 0.45 in southern Italy (P=0.004 for H63D). Nine out of 10 individuals carrying hemochromatosis-associated genotypes (including compound heterozygosity for C282Y and H63D) originated from northern regions. Among controls, the allelic frequencies of C282Y and H63D were 0.037 and 0.16 in the northern regions and 0.015 and 0.16 in the southern regions. In conclusion, over one-third of individuals with persistently altered TS carried hemochromatosis-associated genotypes, confirming that a diagnostic approach based on TS and genotyping of selected cases may represent a viable screening procedure.

Authors+Show Affiliations

Transfusional Centre of Ospedale Civile di Sondrio, Sondrio, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Meta-Analysis
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

14671617

Citation

Velati, Claudio, et al. "Mutations of the Hemochromatosis Gene in Italian Candidate Blood Donors With Increased Transferrin Saturation." The Hematology Journal : the Official Journal of the European Haematology Association, vol. 4, no. 6, 2003, pp. 436-40.
Velati C, Marlianici E, Rigamonti D, et al. Mutations of the hemochromatosis gene in Italian candidate blood donors with increased transferrin saturation. Hematol J. 2003;4(6):436-40.
Velati, C., Marlianici, E., Rigamonti, D., Barillari, G., Chiavilli, F., Fugiani, P., Garozzo, G., Lancieri, M., Rinaldi, S., Testa, D., Sampietro, M., Tavazzi, D., Delbini, P., Fargion, S., & Fiorelli, G. (2003). Mutations of the hemochromatosis gene in Italian candidate blood donors with increased transferrin saturation. The Hematology Journal : the Official Journal of the European Haematology Association, 4(6), 436-40.
Velati C, et al. Mutations of the Hemochromatosis Gene in Italian Candidate Blood Donors With Increased Transferrin Saturation. Hematol J. 2003;4(6):436-40. PubMed PMID: 14671617.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutations of the hemochromatosis gene in Italian candidate blood donors with increased transferrin saturation. AU - Velati,Claudio, AU - Marlianici,Eugenia, AU - Rigamonti,Danila, AU - Barillari,Giovanni, AU - Chiavilli,Francesco, AU - Fugiani,Paolo, AU - Garozzo,Giovanni, AU - Lancieri,Mario, AU - Rinaldi,Sandro, AU - Testa,Domenico, AU - Sampietro,Maurizio, AU - Tavazzi,Dario, AU - Delbini,Paola, AU - Fargion,Silvia, AU - Fiorelli,Gemino, PY - 2003/12/13/pubmed PY - 2004/2/27/medline PY - 2003/12/13/entrez SP - 436 EP - 40 JF - The hematology journal : the official journal of the European Haematology Association JO - Hematol J VL - 4 IS - 6 N2 - The aim of this study was to analyze the role of HFE mutations in blood donors with iron parameters suggesting iron overload, taking into account the regional distribution of HFE mutations in Italy. We studied 5880 subjects undergoing evaluation for blood donation eligibility, from different areas of Italy. Abnormal iron parameters were defined as transferrin saturation (TS) >50% or >45% and serum ferritin (SF) >300 or >250 microg/ml in males and females, respectively. Subjects with increased TS and/or SF were re-tested and typed for HFE mutations C282Y and H63D. A total of 548 individuals had increased iron parameters at first testing. In total, 179/548 were available for retesting, and in 109 increased TS and/or SF were confirmed. Increased TS was confirmed in 25 individuals, among whom three were C282Y homozygotes and six were compound heterozygotes for C282Y and H63D. Increased TS was more frequent in northern Italy than in southern regions. In individuals with increased TS and/or SF, the frequency of C282Y and H63D was 0.13 and 0.21 in northern-Italy versus 0.05 and 0.45 in southern Italy (P=0.004 for H63D). Nine out of 10 individuals carrying hemochromatosis-associated genotypes (including compound heterozygosity for C282Y and H63D) originated from northern regions. Among controls, the allelic frequencies of C282Y and H63D were 0.037 and 0.16 in the northern regions and 0.015 and 0.16 in the southern regions. In conclusion, over one-third of individuals with persistently altered TS carried hemochromatosis-associated genotypes, confirming that a diagnostic approach based on TS and genotyping of selected cases may represent a viable screening procedure. SN - 1466-4860 UR - https://www.unboundmedicine.com/medline/citation/14671617/Mutations_of_the_hemochromatosis_gene_in_Italian_candidate_blood_donors_with_increased_transferrin_saturation_ L2 - http://www.diseaseinfosearch.org/result/3288 DB - PRIME DP - Unbound Medicine ER -