A patient has a family history of hereditary hemochromatosis in her brother. She is otherwise healthy. How would you go about testing her? Answer: Ferritin and transferrin saturation.

“You diagnose hereditary hemochromatosis by getting a random measurement of serum ferritin and calculation of transferrin saturation. The transferrin saturation is calculated by dividing the serum iron level by the total iron binding capacity. If the serum ferritin level is elevated (>200 ng/mL in women) or the transferrin saturation is ³45% the HFE gene should be checked.” ABFM

 

  Reference

Hereditary hemochromatosis. Am Fam Physician 2013;87(3):183-190.

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