Background: Hereditary hemochromatosis is the most frequent, identified, genetic disorder in Caucasians affecting\nabout 1 in 1000 people of Northern European ancestry, where the associated genetic defect (homozygosity for the\np.Cys282Tyr polymorphism in the HFE gene) has a prevalence of approximately 1:200. The disorder is characterized\nby excess iron stores in the body. Due to the incomplete disease penetrance of disease-associated genotype,\ngenetic testing and accurate quantification of hepatic iron content by histological grading of stainable iron,\nquantitative chemical determination of iron, or imaging procedures are important in the evaluation and staging of\nhereditary hemochromatosis.\nMethods: We here established novel laser ablation inductively coupled plasma mass spectrometry protocols for\nhepatic metal bio-imaging for diagnosis of iron overload.\nResults: We demonstrate that these protocols are a significant asset in the diagnosis of iron overload allowing iron\nmeasurements and simultaneous determination of various other metals and metalloids with high sensitivity, spatial\nresolution, and quantification ability.\nConclusions: The simultaneous measurement of various metals and metalloids offers unique opportunities for\ndeeper understanding of metal imbalances. Laser ablation inductively coupled plasma mass spectrometry (LA-ICPMS)\nis a highly powerful and sensitive technique for the analysis of a variety of solid samples with high spatial\nresolution. We conclude that this method is an important add-on to routine diagnosis of iron overload and\nassociated hepatic metal dysbalances resulting thereof.
Loading....