CORRELATION BETWEEN GENOTYPE AND PHENOTYPE IN HEREDITARY HEMOCHROMATOSIS :ANALYSIS OF 61 CASES

摘要: This report assesses the degree of iron overload in a cohort patients relationship to presence or absence recently described 845 G-->A (C282Y) and 187 C-->G (H63D) mutations HFE (HLA-H) gene. Sixty-one with hereditary hemochromatosis diagnosed either liver biopsy on clinical grounds were included this analysis. Forty-one homozygous for C282Y, genotype considered be characteristic hemochromatosis. At time analysis, 37 these 41 had achieved state depletion mobilizable was calculated: 19 less than 4 grams. Twenty-five biopsies; hepatic index 1.9. Of normal index, 3 quantitative greater 50 micromol/g dry weight, one an inadequate sample. These findings support our suspicion that individuals may have C282Y despite relatively low body stores. Five compound heterozygotes H63D. Four underwent biopsy; two third patient 1.3 but 90.6 weight. All phlebotomized only Three H63D; >1.9 grams iron. Patients H63D significant are not well described. Seven heterozygous three did not. no mutations; unequivocally has 4.4 We conclude that: (1) Identification will clinically useful identifying hemochromatosis, (2) Patient genotyping help confirm diagnosis some stores, (3) Significant loading can occur adding evidence genes other involved loading, (4) Homozygous associated overload.