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Significance of H63D homozygosity in a Basque population with hemochromatosis.
J Gastroenterol Hepatol. 2010 Jul; 25(7):1295-8.JG

Abstract

BACKGROUND

The significance of H63D homozygosity remains uncertain, although it is associated with a tendency for patients to develop iron overload.

AIMS

To study the prevalence of homozygotic H63D mutation in patients with phenotypic hemochromatosis (PH) and to compare the results with those of the general population and with patients with porphyria cutanea tarda (PCT) in the Basque Country, Spain. A secondary aim was to evaluate the differences in phenotypic expression and liver injury according to different genotypes in the PH cohort.

METHODS

Mutations of the HFE gene were obtained by polymerase chain reaction (PCR). Forty consecutive patients diagnosed with PH, 116 controls and 54 patients with PCT were included in the study. We performed liver biopsies, measured liver iron concentration (LIC), by atomic spectrophotometry, serum ferritin and transferrin saturation, and compared the histology according to the genotype.

RESULTS

The H63D homozygote mutation was identified in 7.76% of the control group, in 7.50% of the PH group, and in 11.11% of patients with PCT (P > 0.05). The C282Y/C282Y mutation was present in 50% of patients with PH, and LIC was identified in 15/20. The LIC in C282Y/C282Y patients was higher than in H63D/H63D patients (P = 0.26), while H63D homozygosis caused greater iron overload in PH patients than other genotypes. All the C282Y/C282Y genotype patients had elevated serum ferritin and transferrin saturation. The H63D homozygotes had high ferritin, but two out of three had normal transferrin saturation. Six of the eight patients with high-grade fibrosis and genetic study results were found to be C282Y/C282Y.

CONCLUSIONS

The prevalence of H63D mutation in patients with PH in our region does not differ from that of the general Basque population.

Authors+Show Affiliations

Gastroenterology Service, Mendaro Hospital, Barrio Mendarozabal, Basque Country, Spain. agustincastiella@yahoo.esNo 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

Language

eng

PubMed ID

20594259

Citation

Castiella, Agustin, et al. "Significance of H63D Homozygosity in a Basque Population With Hemochromatosis." Journal of Gastroenterology and Hepatology, vol. 25, no. 7, 2010, pp. 1295-8.
Castiella A, Zapata E, de Juan MD, et al. Significance of H63D homozygosity in a Basque population with hemochromatosis. J Gastroenterol Hepatol. 2010;25(7):1295-8.
Castiella, A., Zapata, E., de Juan, M. D., Otazua, P., Fernandez, J., Zubiaurre, L., & Arriola, J. A. (2010). Significance of H63D homozygosity in a Basque population with hemochromatosis. Journal of Gastroenterology and Hepatology, 25(7), 1295-8. https://doi.org/10.1111/j.1440-1746.2010.06247.x
Castiella A, et al. Significance of H63D Homozygosity in a Basque Population With Hemochromatosis. J Gastroenterol Hepatol. 2010;25(7):1295-8. PubMed PMID: 20594259.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Significance of H63D homozygosity in a Basque population with hemochromatosis. AU - Castiella,Agustin, AU - Zapata,Eva, AU - de Juan,Maria Dolores, AU - Otazua,Pedro, AU - Fernandez,Javier, AU - Zubiaurre,Leire, AU - Arriola,Jose A, AU - ,, PY - 2010/7/3/entrez PY - 2010/7/3/pubmed PY - 2010/10/19/medline SP - 1295 EP - 8 JF - Journal of gastroenterology and hepatology JO - J Gastroenterol Hepatol VL - 25 IS - 7 N2 - BACKGROUND: The significance of H63D homozygosity remains uncertain, although it is associated with a tendency for patients to develop iron overload. AIMS: To study the prevalence of homozygotic H63D mutation in patients with phenotypic hemochromatosis (PH) and to compare the results with those of the general population and with patients with porphyria cutanea tarda (PCT) in the Basque Country, Spain. A secondary aim was to evaluate the differences in phenotypic expression and liver injury according to different genotypes in the PH cohort. METHODS: Mutations of the HFE gene were obtained by polymerase chain reaction (PCR). Forty consecutive patients diagnosed with PH, 116 controls and 54 patients with PCT were included in the study. We performed liver biopsies, measured liver iron concentration (LIC), by atomic spectrophotometry, serum ferritin and transferrin saturation, and compared the histology according to the genotype. RESULTS: The H63D homozygote mutation was identified in 7.76% of the control group, in 7.50% of the PH group, and in 11.11% of patients with PCT (P > 0.05). The C282Y/C282Y mutation was present in 50% of patients with PH, and LIC was identified in 15/20. The LIC in C282Y/C282Y patients was higher than in H63D/H63D patients (P = 0.26), while H63D homozygosis caused greater iron overload in PH patients than other genotypes. All the C282Y/C282Y genotype patients had elevated serum ferritin and transferrin saturation. The H63D homozygotes had high ferritin, but two out of three had normal transferrin saturation. Six of the eight patients with high-grade fibrosis and genetic study results were found to be C282Y/C282Y. CONCLUSIONS: The prevalence of H63D mutation in patients with PH in our region does not differ from that of the general Basque population. SN - 1440-1746 UR - https://www.unboundmedicine.com/medline/citation/20594259/Significance_of_H63D_homozygosity_in_a_Basque_population_with_hemochromatosis_ L2 - https://doi.org/10.1111/j.1440-1746.2010.06247.x DB - PRIME DP - Unbound Medicine ER -