BACKGROUND/AIM Diabetes mellitus is a risk factor for cardiovascular diseases (CVDs), which are among the major causes of deaths in type 2 diabetes (T2D). The purpose of the present study was to determine the association of C282Y and H63D mutations in the HFE gene with increased risk of coronary artery disease (CAD) in T2D patients. MATERIALS AND METHODS Two hundred and ninety individuals wer...

BACKGROUND The gene that causes most cases of hereditary hemochromatosis is designated HFE. Individuals with mutations in the HFE gene may have increased serum iron, transferrin saturation, and ferritin concentrations relative to individuals with the wild-type genotype. METHODS We generated reference centiles for percentage of transferrin saturation and serum ferritin concentrations in normal...

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...

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...

Here we report a 33-years-old woman with hereditary spherocytosis and hemochromatosis due to homozygosity for the C282Y mutation of the HFE gene. The coinheritance of both conditions led to severe iron overload and liver cirrhosis at young age. The patient was treated by repeated phlebotomy, and reversibility of cirrhosis was documented by transient elastography. This report discusses the patho...

BACKGROUND The U.S. Preventive Services Task Force (USPSTF) has not previously considered screening for hereditary hemochromatosis for a recommendation as a clinical preventive service for primary care clinicians. PURPOSE To conduct a focused systematic review of hereditary hemochromatosis screening relating to 2 USPSTF criteria, the burden of suffering and the potential effectiveness of a pr...

Classic hereditary hemochromatosis is an autosomal recessive disorder characterized by iron overload and sequence variants in the HFE gene. The HFE gene is located at 6p21.3 and contains 2 common single nucleotide polymorphisms (SNPs) C282Y and H63D, which are routinely tested for in the molecular diagnostics laboratory. In this study, we used DNA samples from 59 patients in which clinicians wa...

Hereditary hemochromatosis (HH) can cause cirrhosis and hepatocellular carcinoma (HCC), but the frequency of these complications is controversial. To address this question, we reviewed the experience with HH at an academic medical center that is the sole liver transplantation center in a state with a population that is >90% Caucasian. The records of all subjects with International Classificatio...