Hemochromatosis diagnostic study of choice
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Shyam Patel [2]
Overview
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
References
- ↑ 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.
- ↑ 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.