Hemochromatosis diagnostic study of choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Shyam Patel [2]


The diagnostic studies of choice include complete blood count, iron panel, and mutational analysis of the HFE gene.

Diagnostic study of choice

The diagnostic studies of choice for hemochromatosis include:

  • Complete blood count: This includes white blood cells, red blood cells, and platelets.
  • Iron panel: This includes serum iron, transferrin saturation, total iron binding capacity, and ferritin. In hemochromatosis, patients have elevated levels of serum iron, transferrin saturation, and ferritin.[1]
  • Mutational analysis: This assesses for point mutations in the HFE gene (located on chromosome 6), which include C282Y and H63D mutations. Patients with the C282Y/C282Y genotype (homozygous) have a confirmed diagnosis of hereditary hemochromatosis.[1]

Other diagnostic tests that can be useful, but are not necessary, include:

  • Echocardiography: This is commonly done to assess for iron infiltration in the cardiac tissue.
  • MRI with T2 STAR sequences: This can be done to image the cardiac or hepatic organs to assess for iron infiltration in detail.[2]
  • Reticulocyte count: Elevated reticulocyte count may suggest another primary hematologic condition rather than hemochromatosis.
  • Erythropoietin level: The erythropoietin level should not be elevated in hemochromatosis.
  • Bone marrow biopsy: This might be important for ruling out other hematologic processes such as polycythemia vera.
  • Liver ultrasound: Liver ultrasound can more accurately assess for iron infiltration than physical examination alone


  1. 1.0 1.1 Adams P, Altes A, Brissot P, Butzeck B, Cabantchik I, Cançado R; et al. (2018). "Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype". Hepatol Int. 12 (2): 83–86. doi:10.1007/s12072-018-9855-0. PMC 5904234. PMID 29589198.
  2. Hernando D, Levin YS, Sirlin CB, Reeder SB (2014). "Quantification of liver iron with MRI: state of the art and remaining challenges". J Magn Reson Imaging. 40 (5): 1003–21. doi:10.1002/jmri.24584. PMC 4308740. PMID 24585403.

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