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Frequency and clinical expression of HFE gene mutations in a Spanish population of subjects with abnormal iron metabolism

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Abstract

Three HFE gene mutations (HFE 845 G→A, 187 C→G and 193 A→T) are the most common mutations related to hereditary haemochromatosis (HH). The genotype for these mutations was analysed in 359 Spanish individuals with altered iron metabolism and iron overload. Various biochemical parameters were measured in serum samples from 96 of these individuals, and the effect of the genotype on these parameters was studied. Allele frequencies were 12.95% for the HFE C282Y variant, 28.97% for the HFE H63D variant and 0.69% for the HFE S65C variant, calculated in a total of 718 chromosomes. Multiple comparisons analysis showed very significant differences (p=0.001) in transferrin saturation index (TSI) between the HFE C282Y variant homozygous and control (ten healthy volunteers) groups. Highly significant (p=0.0001) and significant (p=0.005) differences in serum ferritin values were found between the HFE C282Y variant homozygous and control groups and between compound (HFE C282Y/H63D variant) heterozygous and control groups, respectively. Very significant differences (p=0.001) in serum iron values were observed between the HFE C282Y variant homozygous and control groups. TSI and serum ferritin values detected most HFE C282Y variant homozygotes and are recommended to facilitate the clinical diagnosis of HH.

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Acknowledgements

This study was supported by a grant from the Spanish Fondo de Investigación Sanitaria (FIS) del Instituto de Salud Carlos III (to M-EFV).

CGLL is recipient of a Predoctoral FIS fellowship. SB is recipient of a Predoctoral Fellowship Plan Propio Universidad de Granada. The authors are grateful to Richard Davies for his assistance with the English version.

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Authors and Affiliations

  1. Departamento de Bioquímica y Biología Molecular, Universidad de Granada, Granada, Spain

    Carolina Gómez-Llorente, Sonia Blanco & Jose Antonio Gómez-Capilla

  2. Departamento de Estadística, Universidad de Granada, Granada, Spain

    M. Teresa Miranda-León

  3. Servicio de Bioquímica, Hospital Universitario San Cecilio, Avda. Dr. Oloriz s/n, 18012, Granada, Spain

    Sandra Gandia-Pla, Jose Antonio Gómez-Capilla & M. Esther Fárez-Vidal

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  1. Carolina Gómez-Llorente
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  2. M. Teresa Miranda-León
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  6. M. Esther Fárez-Vidal
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Correspondence to M. Esther Fárez-Vidal.

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Gómez-Llorente, C., Miranda-León, M.T., Blanco, S. et al. Frequency and clinical expression of HFE gene mutations in a Spanish population of subjects with abnormal iron metabolism. Ann Hematol 84, 650–655 (2005). https://doi.org/10.1007/s00277-005-1069-6

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  • DOI: https://doi.org/10.1007/s00277-005-1069-6

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