Hereditary hemochromatosis is a condition that results from the body storing an excess of iron. The excess iron is stored in different body organs causing iron overload. This is harmful because the body can only excrete a certain amount of iron, the iron that is not excreted remains in the body and becomes toxic.
- The organs involved are the liver, heart, pancreas, pituitary, joints, and the skin. There are different types of hemochromatosis that can affect individuals of different ages, all types are inherited in an autosomal recessive manner.
The Igenomix Hereditary Hemochromatosis Precision Panel can be used to make a directed and accurate differential diagnosis of iron overload, ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient.
- Early initiation of treatment with a multidisciplinary team for early chelation therapy, phlebotomy, surgical intervention and/or dietary considerations and preventive measures.
- Risk assessment of asymptomatic family members according to the mode of inheritance.
Genes & Diseases
|GENE||OMIM DISEASES||INHERITANCE*||% GENE COVERAGE (20X)||HGMD**|
|BMP2||20p12.3 Microdeletion Syndrome, Brachydactyly Type A2, Hemochromatosis, Short Stature, Facial Dysmorphism and Skeletal Anomalies With or Without Cardiac Anomalies||AD,AR||99.48%||12 of 12|
|FTH1||Hemochromatosis Type 5||AD||100%||2 of 2|
|HAMP||Hemochromatosis Type 2B||AR||100%||16 of 17|
|HFE||Alzheimer Disease, Hemochromatosis Type 1, Pophyria Cutanea Tarda, Porphyria||AD,AR||100%||55 of 57|
|HJV||Hemochromatosis Type 2A||AR||100%||NA of NA|
|SLC40A1||Hemochromatosis Type 4||AD||99.80%||62 of 64|
|TFR2||Hemochromatosis Type 3||AR||99.79%||54 of 54|
*Inheritance: AD: Autosomal Dominant; AR: Autosomal Recessive; X: X linked; XLR: X linked Recessive; Mi: Mitochondrial; Mu: Multifactorial.
**Number of clinically relevant mutations according to HGMD
Katsarou, M. S., Papasavva, M., Latsi, R., & Drakoulis, N. (2019). Hemochromatosis: Hereditary hemochromatosis and HFE gene. Vitamins and hormones, 110, 201–222. https://doi.org/10.1016/bs.vh.2019.01.010
Pietrangelo A (2006). Hereditary hemochromatosis. Biochimica et biophysica acta, 1763(7), 700–710. https://doi.org/10.1016/j.bbamcr.2006.05.013
Gerhard, G. S., Paynton, B. V., & DiStefano, J. K. (2018). Identification of Genes for Hereditary Hemochromatosis. Methods in molecular biology (Clifton, N.J.), 1706, 353–365. https://doi.org/10.1007/978-1-4939-7471-9_19