INDICATORS OF IRON METABOLISM IN DIAGNOSIS OF HEMOCHROMATOSIS GENE MUTATIONS IN PATIENTS WITH CHRONIC CRYPTOGENIC HEPATITIS

Abstract

Goal: to analyze iron metabolism in patients with chronic cryptogenic hepatitis with HFE gene mutations and assess the most significant indicators of iron metabolism in diagnosis of mutations. Material and methods. We examined 81 patients diagnosed with chronic cryptogenic hepatitis. The indicators of iron metabolism in patients with various HFE gene mutations were assessed. Results. 47 (58 %) patients detected normal genotype (N/N). Simple heterozygous mutations were revealed in 23 patients, of them 19 (23,5 %) - H63D/N, 4 (4,9 %) - C282Y/N. The complex heterozygotes C282Y/H63D were found in 4 (4,9 %) patients. 7 homozygous mutations were detected, 3 (3,7 %) - C282Y C282Y/C282Y, 4 (4,9 %) - H63D/H63D. The transferrin saturation index showed the highest prognostic value in the diagnosis of significant HFE gene mutations. AUC for this indicator was 0,916 ± 0,073, at the separation point at a level of 45,8 % the sensitivity was 85,7 %, specificity - 90,5 %. Conclusion. The patients with chronic cryptogenic hepatitis revealed high prevalence of significant HFE gene mutations (8,6 %). It was revealed that the transferrin saturation index had the greatest diagnostic value the most important mutations of hemochromatosis gene (C282Y/C282Y and H63D/C282Y)