Quantification of hepatic liver iron overload with laser ablation inductively coupled plasma mass spectrometry (LA-ICP-MS)

Iron is the most abundant trace element within the body. In humans, genetic alterations provoking elevated hepatic iron concentrations are very frequent. Genetic screening programs for hereditary hemochromatosis (HH) performed in subjects of different ethnicities revealed a prevalence of homozygotes for the p.Cys282Tyr polymorphism in the HFE gene of up to 0.44% [1]. This disease provokes excess body iron stores, especially within the liver. Due to the incomplete disease penetrance of disease-associated genotype, genetic testing and accurate quantification of hepatic iron content by histological grading of stainable iron, quantitative chemical determination of iron, or imaging procedures are important in the evaluation and staging of HH.