Abstract
ABSTRACT Introduction: Hereditary hemochromatosis (HH) is an inherited condition associated with excessive iron storage. Its strong presence is underestimated because patients are asymptomatic. In the city of Caxias do Sul (RS), due to the higher frequency of the disease, it is necessary to perform a study that relates the HH genotypes to laboratory analyses. Objective: The objective of this study was to evaluate the association of the C282Y, H63D and S65C polymorphisms and laboratory markers in the study cases. Methods: The study was carried out based on the analysis of medical records from 283 patients assisted from January 2010 to January 2013, older than 18 years of age, who performed the genotyping protocol for HH and laboratory exams. The analysis of markers between genotype and laboratory exams was performed by the SPSS20.0 software. Results: The most frequent genetic alterations were in H63D/WT 84 (31%) and C282Y/WT 17 (6.2%). The most compatible genotype for HH was C282Y/C282Y, even though it did not show significant results. The elevated serum ferritin level was slightly higher (p < 0.05) in the study groups, and all of them were above the reference value. We observed in C282Y/C282Y and H63D/C282Y genotypes an insignificant increase in mean corpuscular volume (MCV) and in mean corpuscular hemoglobin (MCH). Conclusion: According to the study, it was possible to observe a significant elevated serum ferritin level in all HH genotypes.
Highlights
Hereditary hemochromatosis (HH) is an inherited condition associated with excessive iron storage
We observed in C282Y/C282Y and H63D/C282Y genotypes an insignificant increase in mean corpuscular volume (MCV) and in mean corpuscular hemoglobin (MCH)
The S65C mutation implies disease usually when compound with C282Y (C282Y/S65C)(6, 22), and, likewise the mutations above mentioned, has a low rate of phenotypic expression, which corroborates the results found in the present study
Summary
Hereditary hemochromatosis (HH) is an inherited condition associated with excessive iron storage. Methods: The study was carried out based on the analysis of medical records from 283 patients assisted from January 2010 to January 2013, older than 18 years of age, who performed the genotyping protocol for HH and laboratory exams. Conclusion: According to the study, it was possible to observe a significant elevated serum ferritin level in all HH genotypes. The HH classification is performed according to the genetic alteration found and the gene associated with iron overload[5]. Classical HH is associated with HFE gene mutations (homozygosis for C282Y or compound heterozygosis for C282Y/H63D)(6). Mutations in this gene, for example, have an inadequate mechanism of hepcidin production (systemic ironregulatory hormone) in response to iron overload[4, 6]
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