Abstract
Hereditary hemochromatosis (HHC; HFE 1) is a common hereditary disorder of iron metabolism and the most common inherited autosomal recessive disorder in Caucasians with a prevalence of 1 in 300 to 1 in 500 individuals. It is characterized by inappropriately high iron absorption resulting in progressive iron overload.
Similar content being viewed by others
References
Andrews, N. C. (1999). Disorders of iron metabolism. The New England Journal of Medicine, 341, 1986–1995.
Assis, R. A., Kay, F. U., Conti, F. M., et al. (2015). The role of magnetic resonance imaging-T2* in the evaluation of iron overload early in hereditary hemochromatosis. A cross sectional study with 159 patients. American Journal of Hematology, 90, 1–7.
Bacon, B. R. (1997). Diagnosis and management of hemochromatosis. Gastroenterology, 113, 995–999.
Bardou-Jacquet, E., & Brissot, P. (2014). Diagnostic evaluation of hereditary hemochromatosis (HFE and non-HFE). Hematology/Oncology Clinics of North America, 28, 625–635.
Barton, J. C. (2013). Hemochromatosis and iron overload: From bench to clinic. American Journal of the Medical Sciences, 346, 403–412.
Bothwell, T. H., & MacPhail, A. P. (1998). Hereditary hemochromatosis: Etiologic, pathologic, and clinical aspects. Seminars in Hematology, 35, 55–71.
Brittenham, G. M., Weiss, G., Brissot, P., et al. (2000). Clinical consequences of new insights in the pathophysiology of disorders of iron and heme metabolism. Hematology American Society of Hematology Education Program, 2000 39–50.
Camaschella, C., & Piperno, A. (1997). Hereditary hemochromatosis: Recent advances in molecular genetics and clinical management. Haematologica, 82, 77–84.
Edwards, C. Q., Griffen, L. M., Goldgar, D., et al. (1988). Prevalence of hemochromatosis among 11,065 presumably healthy blood donors. New England Journal of Medicine, 318, 1355–1362.
Ekanayake, D., Roddick, C., & Powell, L. W. (2015). Recent advances in hemochromatosis: A 2015 update. A summary of proceedings of the 2014 conference held under the auspices of Hemochromatosis Australia. Hepatology International, 9, 174–182.
Farrell, C. P., Parker, C. J., & Phillips, J. D. (2015). Exome sequencing for molecular characterization of non-HFE hereditary hemochromatosis. Blood Cells, Molecules, and Diseases, 55, 101–103.
Feder, J. N., Gnirke, A., Thomas, W., et al. (1996). A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nature Genetics, 13, 399–408.
Feldman, A. G., & Whitington, P. F. (2013). Neonatal hemochromatosis. Journal of Clinical and Experimental Hepatology, 3, 313–320.
Fleming, R. E., & Sly, W. S. (2002). Mechanisms of iron accumulation in hereditary hemochromatosis. Annual Review of Physiology, 64, 663–680.
Hanson, E. H., Imperatore, G., & Burke, W. (2001). HFE gene and hereditary hemochromatosis: A HuGE review. Human genome epidemiology. American Journal of Epidemiology, 154, 193–206.
Harrison, S. A., & Bacon, B. R. (2003). Hereditary hemochromatosis: Update for 2003. Journal of Hepatology, 38(Suppl 1), S14–S23.
Heissat, S., Collardeau-Frachon, S., Baruteau, J., et al. (2015). Neonatal hemochromatosis: Diagnostic work-up based on a series of 56 cases of fetal death and neonatal liver failure. Journal of Pediatrics, 166, 66–73.
Husar-Memmer, E., Stadlmayr, A., Datz, C., et al. (2014). HFE-related hemochromatosis: an update for the rheumatologist. Current Rheumatoogy Reports, 16, 393–399.
Joshi, R., Shvartsman, M., Moran, E., et al. (2015). Functional consequences of transferrin receptor-2 mutations causing hereditary hemochromatosis type 3. Molecular Genetics & Genomic Medicine, 3, 221–232.
Lopriore, E., Mearin, M. L., Oepkesm, D., et al. (2013). Neonatal hemochromatosis: Management, outcome, and prevention. Prenatal Diagnosis, 33, 1221–1225.
Mclaren, G. D., & Gordeuk, V. R. (2009). Hereditary hemochromatosis: Insights from the hemochromatosis and iron overload screening (HEIRS) study. Hematology American Society of Hematology Education Program, 2009 195–206.
Morrison, E. D., Brandhagen, D. J., Phatak, P. D., et al. (2003). Serum ferritin level predicts advanced hepatic fibrosis among U.S. patients with phenotypic hemochromatosis. Annals of Internal Medicine, 138, 627–633.
Moyer, T. P., Highsmith, W. E., Smyrk, T. C., et al. (2011). Hereditary hemochromatosis: Laboratory evaluation. Clinica Chimica Acta, 412, 1485–1492.
Nichols, G. M., & Bacon, B. R. (1989). Hereditary hemochromatosis: Pathogenesis and clinical features of a common disease. American Journal of Gastroenterology, 84, 851–862.
Niederau, C., Fischer, R., Sonnenberg, A., et al. (1985). Survival and cause of death in cirrhotic and noncirrhotic patients with primary hemochromatosis. The New England Journal of Medicine, 313, 1256–1262.
Niederau, C., Fischer, R., Purschel, A., et al. (1996). Long-term survival in patients with hereditary hemochromatosis. Gastroenterology, 110, 1107–1119.
Pelusi, C., Gasparini, D. I., Bianchi, N., et al. (2016). Endocrine dysfunction in hereditary hemochromatosis. [Epub ahead of print].
Phatak, P. D., & Cappuccio, J. D. (1994). Management of hereditary hemochromatosis. Blood Reviews, 8, 193–198.
Phatak, P. D., Guzman, G., Woll, J. E., et al. (1994). Cost-effectiveness of screening for hereditary hemochromatosis. Archives of Internal Medicine, 154, 769–776.
Pietrangelo, A. (2006). Haemochromatosis. Biochimica et Biophysica Acta, 1763, 700–710.
Pietrangelo, A. (2010). Hereditary hemochromatosis: Pathogenesis, diagnosis, and treatment. Gastroenterology, 139, 393–408.
Ramrakhiani, S., & Bacon, B. R. (1998). Hemochromatosis: Advances in molecular genetics and clinical diagnosis. Journal of Clinical Gastroenterology, 27, 41–46.
Salgia, R. J., & Brown, K. (2015). Diagnosis and management of hereditary hemochromatosis. Clinical Liver Disease, 19, 187–198.
Seckington, R., & Powell, L. (2015). HFE-associated hereditary hemochromatosis. GeneReviews. Updated 17 Sept 2015. Available at: http://www.ncbi.nlm.nih.gov/books/NBK1440/
Tavill, A. S. (2001). Diagnosis and management of hemochromatosis. Hepatology, 33, 1321–1328.
Whitington, P. F., & Hibbard, J. U. (2004). High-dose immunoglobulin during pregnancy for recurrent neonatal haemochromatosis. Lancet, 364, 1690–1698.
Whitington, P. F., & Kelly, S. (2008). Outcome of pregnancies at risk for neonatal hemochromatosis is improved by treatment with high-dose intravenous immunoglobulin. Pediatrics, 121, e1615–e1621.
Whittington, C. A., & Kowdley, K. V. (2002). Review article: Haemochromatosis. Alimentary Pharmacology and Therapeutics, 16, 1963–1975.
Yun, S., & Vincelette, N. D. (2015). Update on iron metabolism and molecular perspective of common genetic and acquired disorder, hemochromatosis. Critical Reviews in Oncology/Hematology, 95, 12–25.
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
Copyright information
© 2016 Springer Science+Business Media New York
About this entry
Cite this entry
Chen, H. (2016). Hereditary Hemochromatosis. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_116-2
Download citation
DOI: https://doi.org/10.1007/978-1-4614-6430-3_116-2
Received:
Accepted:
Published:
Publisher Name: Springer, New York, NY
Online ISBN: 978-1-4614-6430-3
eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences