Abstract
Hereditary hemochromatosis (HHC) is an autosomal recessive disorder of iron metabolism resulting from excess iron storage in the liver, skin, pancreas, heart, joints, testes, and pituitary gland. If left untreated, life-threatening complications such as cirrhosis, diabetes, liver cancer, and cardiomyopathy may result. Iron overload and the resulting clinical complications can be avoided by early diagnosis and periodic phlebotomy to reduce the body’s iron stores.
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References
Feder JN, Gnirke A, Thomas W, et al. A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996;13:399–408.
Hanson EH, Imperatore G, Burke W. HFE gene and hereditary hemochromatosis: a HuGE review. Human Genome Epidemiology. Am J Epidemiol. 2001;154:193–206.
Lyon E, Frank EL. Hereditary hemochromatosis since discovery of the HFE gene. Clin Chem. 2001;47:1147–1156.
Imperatore G, Pinsky LE, Motulsky A, Reyes M, Bradley LA, Burke W. Hereditary hemochromatosis: perspectives of public health, medical genetics, and primary care. Genet Med. 2003;5:1–8.
Camaschella C, Roetto A, Cali A, et al. The gene TFR2 is mutated in a new type of haemochromatosis mapping to 7q22. Nat Genet. 2000;25:14–15.
Njajou OT, Vaessen N, Joosse M, et al. A mutation in SLC11A3 is associated with autosomal dominant hemochromatosis. Nat Genet. 2001;28:213–214.
Burke W, Imperatore G, McDonnell SM, Baron RC, Khoury MJ. Contribution of different HFE genotypes to iron overload disease: a pooled analysis. Genet Med. 2000;2:271–277.
Somerville MJ, Sprysak KA, Hicks M, Elyas BG, Vicen-Wyhony L. An HFE intronic variant promotes misdiagnosis of hereditary hemochromatosis. Am J Hum Genet. 1999;65:924–926.
Beutler E, Gelbart T. A common intron 3 mutation (IVS3-48c→g) leads to misdiagnosis of the c.845G→A (C282Y) HFE gene mutation. Blood Cells Mol Dis. 2000;26:229–233.
Pointon JJ, Merryweather-Clarke AT, Carella M, Robson KJ. Detection of C282Y and H63D in the HFE gene. Genet Test. 2000;4:115–120.
Weatherall DJ, Clegg JB, Higgs DR, Wood WG. The hemoglobinopathies. In: Scriver CR, Beaudet AL, Sly W, Valle D, eds.The Metabolic and Molecular Basis of Inherited Disease. 8th ed. New York: McGraw-Hill; 2001:4571–4636.
Gay JC, Phillips JA III, Kazazian HH. Hematoglobinopathies and thalassemias. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Emery and Rimoin’s Principles and Practices of Medical Genetics. New York: Churchill Livingstone; 1997:1599–1626.
Cao A, Galanello R. Beta-thalassemia. GeneReviews [database online]. Seattle, WA: University of Washington. Updated March 18, 2003.
Hatcher SL, Trang QT, Robb KM, Teplitz RL, Carlson JR. Prenatal diagnosis by enzymatic amplification and restriction endonuclease digestion for detection of haemoglobins A, S and C. Mol Cell Probes. 1992;6:343–348.
Hermann MG. Genotyping β-globin mutations (HbS, HbC, HbE) by multiplexing probe color and melting temperature. In: Meuer S, Wittwer CT, Nakagawara K, eds. Rapid Cycle Real-Time PCR: Methods and Applications. Heidelberg: Springer-Verlag; 2001:119–125.
Kattamis AC, Camaschella C, Sivera P, Surrey S, Fortina P. Human alpha-thalassemia syndromes: detection of molecular defects. Am J Hematol. 1996;53:81–91.
Tan AS, Quah TC, Low PS, Chong SS. A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia. Blood. 2001;98:250–251.
Tuzmen S, Schechter AN. Genetic diseases of hemoglobin: diagnostic methods for elucidating beta-thalassemia mutations. Blood Rev. 2001;15:19–29.
Moreno I, Bolufer P, Perez ML, Barragan E, Sanz MA. Rapid detection of the major Mediterranean beta-thalassaemia mutations by real-time polymerase chain reaction using fluorophorelabelled hybridization probes. Br J Haematol. 2002;119:554–557.
Avent ND, Reid ME. The Rh blood group system: a review. Blood. 2000;95:375–387.
Bowman JM. Immune hemolytic disease. In: Nathan DG, Oski FA, eds. Hematology of Infancy and Childhood. Philadelphia: W. b. Saunders; 1998:53–78.
van der Schoot CE, Tax GH, Rijnders RJ, de Haas M, Christiaens GC. Prenatal typing of Rh and Kell blood group system antigens: the edge of a watershed. Transfus Med Rev. 2003;17:31–44.
Singleton BK, Green CA, Avent ND, et al. The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in Africans with the Rh D-negative blood group phenotype. Blood. 2000;95:12–18.
Wagner FF, Flegel WA. RHD gene deletion occurred in the Rhesus box. Blood. 2000;95:3662–3668.
Wagner FF, Frohmajer A, Flegel WA. RHD positive haplotypes in D negative Europeans. BMC Genet. 2001;2:10.
Finning KM, Martin PG, Soothill PW, Avent ND. Prediction of fetal D status from maternal plasma: introduction of a new noninvasive fetal RHD genotyping service. Transfusion. 2002;42:1079–1085.
Stamatoyannopoulos G, Nienhuis AW. Hemoglobin switching. In: Stamatoyannopoulos G, Nienhuis AW, Majerus PW, Varmus H, eds. The Molecular Basis of Blood Diseases. Philadelphia: W. b. Saunders; 1994:107–155.
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Bellissimo, D.B. (2007). Hematologic Disorders: Hemochromatosis, Hemoglobinopathies, and Rh Incompatibility. In: Leonard, D.G.B., Bagg, A., Caliendo, A.M., Kaul, K.L., Van Deerlin, V.M. (eds) Molecular Pathology in Clinical Practice. Springer, New York, NY. https://doi.org/10.1007/978-0-387-33227-7_13
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DOI: https://doi.org/10.1007/978-0-387-33227-7_13
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