Abstract Objective : Hereditary hemochromatosis, or primary is a recessive genetic liver disorder caused by iron accumulation in tissues. This study evaluates patients with hereditary hemochromatosis to determine correlations between clinical and laboratory data. Methods The data analyzed this was gathered from the discharge records 2019 2021 of Gastroenterology Department Mures Country Emergen...

A 66-year-old male patient presented with a 4-month history of progressive muscle weakness. Twelve years prior to presentation he was evaluated for fatigue, weight loss, new-onset diabetes and elevated liver enzymes and was diagnosed with hereditary hemochromatosis, homozygous for the C282Y mutation in the HFE gene. His total iron at diagnosis was 137 mcg/dL; iron binding capacity, 149 mcg/dL; ...

A positive iron balance inevitably leads to iron overload. 1 Excluding red blood cell transfusion, iron loading usually reflects an altered mucosal regulation of iron absorption, observed both in genetic conditions not associated with anemia and in iron-loading anemias. 2,3 The best characterized form of genetic iron overload is a common recessive HLA-linked disorder, initially called idiopathi...

We report the case of a 7 years old girl with Juvenile Hemochromatosis, due to homozygous mutation of HJV, which had increased serum iron indices and liver iron overload in the absence of any clinical sign of disease. Oral iron chelation with low dose deferasirox showed good efficacy and no side effects. The oral iron chelator deferasirox could be a valid option for removing excess iron in earl...

A patient with coexistent hemochromatosis and alpha-1-antitrypsin deficiency which led to cirrhosis and death despite adequate therapy for hemochromatosis is reported. Evaluation of the family revealed first degree relatives with iron overload and others with alpha-1-antitrypsin deficiency but none with both conditions. The role of family studies in the early recognition and possible prevention...

Three main non-invasive imaging methods are routinely used for the assessment of liver fibrosis and steatosis in patients with nonalcoholic fatty disease (NAFLD): vibration-controlled transient elastography (VCTE) using FibroScan device, magnetic resonance (MRI) based on proton density fat fraction (PDFF), (MRE). The purpose our study is to evaluate efficiency VCTE findings compared two others ...

Evaluation of: Gannon PO, Medelci S, Le Page C et al. Impact of hemochromatosis gene (HFE) mutations on epithelial ovarian cancer risk and prognosis. Int. J. Cancer 128(10), 2326-2334 (2011). The frequency of two mutations (C282Y and D62H) of the hemochromatosis gene were investigated in women with ovarian cancer. A single allele mutation of the C282Y but not the H63D gene product was detected ...

During a screening program we identified a 5-year old girl with elevated iron parameters. The child was found to have a combination of a novel R176C mutation together with the G320V mutation in the juvenile hemochromatosis gene (HJV). The girl was also homozygous for the H63D mutation in HFE. The possibility of detecting juvenile hemochromatosis before the onset of clinical manifestations raise...

Hereditary hemochromatosis is a genetic disease that progresses silently. This disease is often diagnosed late when complications appear. Hypogonadotropic hypogonadism (HH) is one of the classical complications of hemochromatosis. Its frequency is declining probably because of earlier diagnosis and better informed physicians. Certain symptoms linked to HH can have an impact on a patient's sexua...

The effect of five different transferrin variants (TFv1, TFv2, TFv3, TFv4, and TFv5) on the hemoglobin level, mean corpuscular volume (MCV), ferritin level, percent transferrin saturation (%TS), and the unsaturated iron binding capacity (UIBC) was investigated in subjects with defined HFE haplotypes, 919 persons undergoing health screening and 113 patients with clinical hemochromatosis. The mos...