Tags

Type your tag names separated by a space and hit enter

Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy.
J Hepatol. 2001 Apr; 34(4):523-8.JH

Abstract

BACKGROUND/AIMS

The actual prevalence of the main hemochromatosis (HFE) mutations in the Italian adult population and their phenotypic expression have not yet been established. This information is key to advocate a mass-screening program.

METHODS

Two thousand one hundred adults were tested for the C282Y/H63D HFE gene mutations by an automated genotyping assay as well as transferrin saturation (TS) and serum ferritin levels.

RESULTS

No homozygotes for the C282Y mutation were found. Heterozygosity for the C282Y mutation was 3.1%, while heterozygosity and homozygosity for the H63D mutation were 21.5% and 2.5%, respectively. TS was significantly higher in C282Y heterozygotes and H63D homozygotes as compared to wild-type individuals (P < 0.01). Interestingly, of the HFE wild-type subjects 5.9% had a TS value above the 45% threshold.

CONCLUSIONS

This study shows that (i) the predicted prevalence for C282Y homozygosity in Italy is 1:3900; (ii) the C282Y/H63D wild-type population has an increased baseline of iron parameters possibly due to genetic factors not linked to the C282Y/H63D mutations; (iii) since in the latter population the actual tissue iron burden cannot be assessed, phenotypic (TS) screening in Italy is not recommended until the true prevalence of all mutations in the HFE gene and in other hemochromatosis genes will be established.

Authors+Show Affiliations

Department of Internal Medicine, University of Modena and Reggio Emilia, Policlinico, 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 available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

11394651

Citation

Cassanelli, S, et al. "Frequency and Biochemical Expression of C282Y/H63D Hemochromatosis (HFE) Gene Mutations in the Healthy Adult Population in Italy." Journal of Hepatology, vol. 34, no. 4, 2001, pp. 523-8.
Cassanelli S, Pignatti E, Montosi G, et al. Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy. J Hepatol. 2001;34(4):523-8.
Cassanelli, S., Pignatti, E., Montosi, G., Garuti, C., Mariano, M., Campioli, D., Carbonieri, A., Baldini, E., & Pietrangelo, A. (2001). Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy. Journal of Hepatology, 34(4), 523-8.
Cassanelli S, et al. Frequency and Biochemical Expression of C282Y/H63D Hemochromatosis (HFE) Gene Mutations in the Healthy Adult Population in Italy. J Hepatol. 2001;34(4):523-8. PubMed PMID: 11394651.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Frequency and biochemical expression of C282Y/H63D hemochromatosis (HFE) gene mutations in the healthy adult population in Italy. AU - Cassanelli,S, AU - Pignatti,E, AU - Montosi,G, AU - Garuti,C, AU - Mariano,M, AU - Campioli,D, AU - Carbonieri,A, AU - Baldini,E, AU - Pietrangelo,A, PY - 2001/6/8/pubmed PY - 2001/10/12/medline PY - 2001/6/8/entrez SP - 523 EP - 8 JF - Journal of hepatology JO - J Hepatol VL - 34 IS - 4 N2 - BACKGROUND/AIMS: The actual prevalence of the main hemochromatosis (HFE) mutations in the Italian adult population and their phenotypic expression have not yet been established. This information is key to advocate a mass-screening program. METHODS: Two thousand one hundred adults were tested for the C282Y/H63D HFE gene mutations by an automated genotyping assay as well as transferrin saturation (TS) and serum ferritin levels. RESULTS: No homozygotes for the C282Y mutation were found. Heterozygosity for the C282Y mutation was 3.1%, while heterozygosity and homozygosity for the H63D mutation were 21.5% and 2.5%, respectively. TS was significantly higher in C282Y heterozygotes and H63D homozygotes as compared to wild-type individuals (P < 0.01). Interestingly, of the HFE wild-type subjects 5.9% had a TS value above the 45% threshold. CONCLUSIONS: This study shows that (i) the predicted prevalence for C282Y homozygosity in Italy is 1:3900; (ii) the C282Y/H63D wild-type population has an increased baseline of iron parameters possibly due to genetic factors not linked to the C282Y/H63D mutations; (iii) since in the latter population the actual tissue iron burden cannot be assessed, phenotypic (TS) screening in Italy is not recommended until the true prevalence of all mutations in the HFE gene and in other hemochromatosis genes will be established. SN - 0168-8278 UR - https://www.unboundmedicine.com/medline/citation/11394651/Frequency_and_biochemical_expression_of_C282Y/H63D_hemochromatosis__HFE__gene_mutations_in_the_healthy_adult_population_in_Italy_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0168827801000356 DB - PRIME DP - Unbound Medicine ER -