TY - CHAP M1 - Book, Section TI - Clinical Practice: Molecular Pathology A1 - Gulley, Margaret L. A2 - Reisner, Howard M. PY - 2020 T2 - Pathology: A Modern Case Study, 2e AB - A 30-year-old man developed liver cirrhosis and diabetes. High serum ferritin and high transferrin saturation levels led to the hypothesis that iron toxicity to the liver and pancreas contributed to his cirrhosis and diabetes. A blood specimen was tested for mutation in the HFE gene that is responsible, at least in part, for hereditary hemochromatosis. Polymerase chain reaction (PCR) followed by melt curve analysis was performed, and a pathologist interpreted the findings as homozygous HFE C282Y mutation. The HFE gene mutation is predicted to cause an amino acid substitution in the encoded protein, predisposing the patient to iron overload via overabsorption of iron from the diet. A straightforward treatment is available to overcome iron overload in affected patients. This patient was treated with therapeutic phlebotomy until his serum iron levels returned to the normal range. He remains at risk for recurrence of iron overload, and he should be periodically monitored for evidence of high serum ferritin. This is a heritable disorder, and a genetic counselor educated the patient about the increased risk of iron overload faced by blood relatives who may also have inherited two mutant alleles of the HFE gene. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accessmedicine.mhmedical.com/content.aspx?aid=1173768182 ER -