It is well documented that Hb S and iron affect blood cells, and trigger oxidative processes and generation of free radicals with potential for lipid peroxidation. We evaluated the frequency of polymorphisms in the HFE gene in Hb AS blood donors and how these polymorphisms influenced lipid peroxidation and antioxidant capacity. Blood samples were collected from 211 Hb AS blood donors, 119...

Background and Objectives. Hereditary hemochromatosis (HH) is an autosomal recessive disorder of iron metabolism. The HFE gene implicated in this disorder has been identified on chromosome 6 (6p21.3). The most prevalent mutation in HH patients changes the 282 cysteine residue to tyrosine (C282Y). The role of a second mutation which changes the 63 histidine to aspartic acid (H63D) in iron overlo...

Human hemochromatosis protein (HFE) is involved in iron metabolism. Two major HFE polymorphisms, H63D and C282Y, have been associated with an increased risk of cancers. Previously, we reported decreased gender effects in overall survival based on H63D or C282Y HFE polymorphisms patients with glioblastoma multiforme (GBM). However, the effect of other single nucleotide variation (SNV) in the HFE...

BACKGROUND Approximately one-half of Brazilian patients with hereditary hemochromatosis (HH) are neither homozygous for the C282Y mutation nor compound heterozygous for the H63D and C282Y mutations that are associated with HH in Caucasians. Other mutations have been described in the HFE gene as well as in genes involved in iron metabolism, such as transferrin receptor 2 (TfR2) and ferroportin 1...

BACKGROUND Two mutations in HFE, G845A (amino acid substitution C282Y) and C187G (H63D), are associated with hereditary hemochromatosis. We developed and validated a novel method, linked linear amplification (LLA), for detection of these two mutations. METHODS Two segments of HFE were amplified by a multiplex LLA reaction that generated biotinylated LLA products. Aliquots of the multiplex LLA...

The most important function of red blood cells (RBCs) is the carrying of oxygen, but they are also involved in inflammatory processes and during coagulation. RBCs are extremely deformable and elastic, as they are exposed to shear forces as they travel through the vascular system. In inflammatory conditions, and in the presence of hydroxyl radicals, RBCs loose their discoid shape. Here, ultrastr...

BACKGROUND AND OBJECTIVES In Italy, typical HFE mutations account for only 64% of the cases with overt hereditary hemochromatosis (HH), and a common HFE-unrelated disease was hypothesized. DESIGN AND METHODS One thousand and fifty potential blood donors were screened by iron tests, C282Y and H63D HFE mutation analysis in a region in North Italy. Subjects with repeated fasting transferrin satu...

BACKGROUND AND OBJECTIVES Hemochromatosis is a genetic disorder characterized by progressive iron overload which leads to early abnormalities of iron parameters (increased transferrin saturation =TS and serum ferritin=SF) and late clinical complications. The disease is prevalently due to C282Y and H63D mutations in the HFE gene, but additional molecular defects are present in a minority of pati...

Abstract HFE is the most frequently mutated gene in hereditary hemochromatosis, a disease which iron accumulates organs leading to toxicities. Worldwide, two main polymorphisms protein have been observed, namely C282Y and H63D. Even if associated milder accumulations, H63D polymorphism increases risk of cancer development aggressiveness. As observed pancreatic patients, great percentage those t...

Iron overload is frequently associated with hereditary or secondary alterations of iron metabolism.1,2 Hereditary hemochromatosis (HH), the most common genetic disease among northern European populations, is an autosomal recessive disorder characterized by an enhanced gastrointestinal absorption of iron that leads to progressive increase of iron stores and, eventually, to multiple organ dysfunc...