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Hemochromatosis is an iron overload disorder caused by excess iron being stored in the body and can be either inherited or acquired. Hereditary hemochromatosis (HH) is a genetic disorder resulting in excessive absorption and storage of dietary iron leading to progressive iron accumulation in tissues resulting in organ damage.
Tests generally appear in the order most useful for common clinical situations
| Test name: Iron & Iron Binding Capacity |
| ARUP #: 0020420 |
| Methodology: Quantitative Spectrophotometry/Calculation |
| Use: First-line screening for hemochromatosis Assay includes serum or plasma iron, transferrin saturation (STS), and total iron binding capacity (TIBC) STS is calculated as part of this assay -
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| Test name: Ferritin |
| ARUP #: 0070065 |
| Methodology: Quantitative Chemiluminescent Immunoassay |
| Use: First-line screening for hemochromatosis Monitor treatment for hemochromatosis |
| Test name: Hemochromatosis (HFE) 3 Mutations |
| ARUP #: 0055656 |
| Methodology: Polymerase Chain Reaction/Fluorescence Monitoring |
| Use: Determine presence of HFE gene mutations (C282Y, H63D and S65C) in patients with iron overload or a family history of HH If mutations are present, repeat STS and SF testing |
| Limitations: Only the 3 targeted HFE gene mutations will be detected Rare diagnostic errors may occur due to primer site mutations Not recommended for asymptomatic patients <18 |
| Test name: Iron, Liver |
| ARUP #: 0028250 |
| Methodology: Quantitative Inductively Coupled Plasma-Mass Spectrometry |
| Use: Quantify iron excess in the liver |
| Limitations: Hepatic iron distribution may be heterogenous; verification of biopsy quality or testing multiple biopsy cores is preferred |
| Test name: Aspartate Aminotransferase, Serum or Plasma |
| ARUP #: 0020007 |
| Methodology: Quantitative Enzymatic |
| Use: Monitor treatment of hemochromatosis |
| Test name: Hepatitis B Surface Antigen by Immunohistochemistry |
| ARUP #: 2003917 |
| Methodology: Immunohistochemistry |
| Use: Identify symptoms of iron overload Stained and returned to client pathologist; consultation available if needed |
| Test name: Alpha-1-Antitrypsin (AAT) by Immunohistochemistry |
| ARUP #: 2003424 |
| Methodology: Immunohistochemistry |
| Use: Identify fibrotic liver disease Stained and returned to client pathologist; consultation available if needed |
| Test name: Iron, Plasma or Serum |
| ARUP #: 0020037 |
| Methodology: Quantitative Spectrophotometry |
| Comments: Can be used to estimate STS Order with serum transferrin |
| Test name: Transferrin, Serum |
| ARUP #: 0050570 |
| Methodology: Quantitative Immunoturbidimetric |
| Comments: Can be used to estimate STS Order with iron (plasma or serum) To determine serum transferrin saturation when ordering both serum transferrin and plasma or serum iron tests, the following equation is necessary for interpreting test results:
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