Hemochromatosis diagnostic study of choice
|
Hemochromatosis Microchapters |
|
Diagnosis |
|---|
|
Treatment |
|
Case Studies |
|
Hemochromatosis diagnostic study of choice On the Web |
|
American Roentgen Ray Society Images of Hemochromatosis diagnostic study of choice |
|
Risk calculators and risk factors for Hemochromatosis diagnostic study of choice |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Shyam Patel [2]
Overview
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.
- Mutational analysis: This assesses for point mutations in the HFE gene, which include C282Y and H63D mutations. Patients with the C282Y/C282Y genotype (homozygous) have a confirmed diagnosis of hereditary hemochromatosis.
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.
- 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