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

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