Hemochromatosis is a genetically heterogeneous autosomal recessive disorder of iron metabolism characterized by systemic iron overload and deposition in tissue parenchymal cells. The most common form is linked to mutations to HFE gene and constitutes the most frequent genetic disorder in Caucasians. The iron overload can cause dilated or restrictive cardiomyopathy and can manifest with conduction abnormalities and tachyarrhythmia.
Why to perform genetic testing in cases with Hemochromatosis?
- To confirm the diagnosis
- To provide specific treatment and prognosis
- To detect family members at risk who can be treated before symptoms appear
Our Hemochromatosis test panel
Important: All our panels can be modified based on the phenotype. Please contact us if you have questions
What to expect from the Hemochromatosis genetic test panel: The general yield of the test is close to 70%
- Haemochromatosis: a clinical update for the practising physician.Radford-Smith et al., Intern Med J. 2018 May;48(5):509-516. doi: 10.1111/imj.13784.
- Identification Of Genes for Hereditary Hemochromatosis 2018: Gerhard GS, et al. Methods Mol Biol. 2018;1706:353-365. doi: 10.1007/978-1-4939-7471-9_19.
- The mechanisms of systemic iron homeostasis and etiology, diagnosis, and treatment of hereditary hemochromatosis. Kawavata, H. Int J Hematol. 2018 Jan;107(1):31-43. doi: 10.1007/s12185-017-2365-3. Epub 2017 Nov 13.
Download here interesting open access manuscripts on genetics of Hemochromatosis