HFE gene mutations in patients with primary iron overload: Is there a significant improvement in molecular diagnosis yield with HFE sequencing?

Blood Cells, Molecules, and Diseases - Tập 45 - Trang 302-307 - 2010
Paulo C.J.L. Santos1, Alexandre C. Pereira2, Rodolfo D. Cançado3, Isolmar T. Schettert2,4, Tiago J.P. Sobreira2, Paulo S.L. Oliveira2, Rosario D.C. Hirata1, Mario H. Hirata1, Maria Stella Figueiredo5, Carlos S. Chiattone3, Jose E. Krieger2, Elvira M. Guerra-Shinohara1
1Department of Clinical Chemistry and Toxicology, School of Pharmaceutical Sciences, University of Sao Paulo, SP, Brazil
2Laboratory of Genetics and Molecular Cardiology, Heart Institute, University of Sao Paulo Medical School, SP, Brazil
3Santa Casa Medical School, Sao Paulo, SP, Brazil
4Novo Atibaia Hospital, SP, Brazil
5Hematology and Hemotherapy, EPM/UNIFESP, SP, Brazil

Tài liệu tham khảo

Adams, 2000, Nonexpressing homozygotes for C282Y hemochromatosis: minority or majority of cases?, Mol. Genet. Metab., 71, 81, 10.1006/mgme.2000.3037 Bacon, 2001, Hemochromatosis: diagnosis and management, Gastroenterology, 120, 718, 10.1053/gast.2001.21913 Agostinho, 1999, Mutation analysis of the HFE gene in Brazilian populations, Blood Cells Mol. Dis., 25, 324, 10.1006/bcmd.1999.0260 Allen, 2008, Iron-overload-related disease in HFE hereditary hemochromatosis, N Engl J. Med., 358, 221, 10.1056/NEJMoa073286 Alexander, 2009, HFE-associated hereditary hemochromatosis, Genet. Med., 11, 307, 10.1097/GIM.0b013e31819d30f2 Merryweather-Clarke, 1997, Global prevalence of putative haemochromatosis mutations, J. Med. Genet., 34, 275, 10.1136/jmg.34.4.275 Jackson, 2001, HFE mutations, iron deficiency and overload in 10, 500 blood donors, Br. J. Haematol., 114, 474, 10.1046/j.1365-2141.2001.02949.x Milman, 2005, Frequency of the hemochromatosis HFE mutations C282Y, H63D, and S65C in blood donors in the Faroe Islands, Ann. Hematol., 84, 146, 10.1007/s00277-004-0865-8 Beckman, 2001, Haemochromatosis gene mutations in Finns, Swedes and Swedish Saamis, Hum. Hered., 52, 110, 10.1159/000053362 Pereira, 2001, Hemochromatosis gene variants in three different ethnic populations: effects of admixture for screening programs, Hum. Biol., 73, 145, 10.1353/hub.2001.0009 Terada, 2009, Iron deficiency and frequency of HFE C282Y gene mutation in Brazilian blood donors, Transfus. Med., 19, 245, 10.1111/j.1365-3148.2009.00944.x Beutler, 2003, Iron deficiency and overload, Hematol. Am. Soc. Hematol. Educ. Program., 40, 10.1182/asheducation-2003.1.40 Carella, 1997, Mutation analysis of the HLA-H gene in Italian hemochromatosis patients, Am. J. Hum. Genet., 60, 828 Feder, 1996, A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis, Nat. Genet., 13, 399, 10.1038/ng0896-399 Lok, 2009, Iron overload in the Asian community, Blood, 114, 20, 10.1182/blood-2009-01-199109 Leone, 2005, Analysis of HFE gene mutations (C282Y, H63D, and S65C) in the Ecuadorian population, Ann. Hematol., 84, 103, 10.1007/s00277-004-0966-4 Thakur, 2004, Absence of hemochromatosis associated Cys282Tyr HFE gene mutation and low frequency of hemochromatosis phenotype in nonalcoholic chronic liver disease patients in India, J. Gastroenterol. Hepatol., 19, 86, 10.1111/j.1440-1746.2004.03262.x Potekhina, 2005, Unique genetic profile of hereditary hemochromatosis in Russians: high frequency of C282Y mutation in population, but not in patients, Blood Cells Mol. Dis., 35, 182, 10.1016/j.bcmd.2005.06.012 Cancado, 2006, Analysis of HFE gene mutations and HLA-A alleles in Brazilian patients with iron overload, São Paulo Med. J., 124, 55, 10.1590/S1516-31802006000200002 Bittencourt, 2009, Analysis of HFE and Non-HFE gene mutations in Brazilian patients with hemochromatosis, Clinics (Sao Paulo), 64, 837, 10.1590/S1807-59322009000900003 Pietrangelo, 2006, Molecular insights into the pathogenesis of hereditary haemochromatosis, Gut, 55, 564, 10.1136/gut.2005.078063 Piperno, 1998, Classification and diagnosis of iron overload, Haematologica, 83, 447 Barton, 1999, Two novel missense mutations of the HFE gene (I105T and G93R) and identification of the S65C mutation in Alabama hemochromatosis probands, Blood Cells Mol. Dis., 25, 147, 10.1006/bcmd.1999.0240 Mura, 1999, HFE mutations analysis in 711 hemochromatosis probands: evidence for S65C implication in mild form of hemochromatosis, Blood, 93, 2502, 10.1182/blood.V93.8.2502 Dupradeau, 2008, An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1, Hum. Mutat., 29, 206, 10.1002/humu.9517 Mendes, 2009, Non-classical hereditary hemochromatosis in Portugal: novel mutations identified in iron metabolism-related genes, Ann. Hematol., 88, 229, 10.1007/s00277-008-0572-y Swinkels, 2006, Hereditary hemochromatosis: genetic complexity and new diagnostic approaches, Clin. Chem., 52, 950, 10.1373/clinchem.2006.068684 Robson, 2004, Recent advances in understanding haemochromatosis: a transition state, J. Med. Genet., 41, 721, 10.1136/jmg.2004.020644 Aguilar-Martinez, 2005, The evaluation of hyperferritinemia: an updated strategy based on advances in detecting genetic abnormalities, Am. J. Gastroenterol., 100, 1185, 10.1111/j.1572-0241.2005.40998.x Brissot, 2008, Current approach to hemochromatosis, Blood Rev., 22, 195, 10.1016/j.blre.2008.03.001 Guigo, 2003, Comparison of mouse and human genomes followed by experimental verification yields an estimated 1, 019 additional genes, Proc. Natl Acad. Sci. USA, 100, 1140, 10.1073/pnas.0337561100 Salazar, 1998, Optimized procedure for DNA isolation from fresh and cryopreserved clotted human blood useful in clinical molecular testing, Clin. Chem., 44, 1748, 10.1093/clinchem/44.8.1748 Thompson, 1994, CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice, Nucleic Acids Res., 22, 4673, 10.1093/nar/22.22.4673 Wang, 2000, How well does a retrained electrostatic potential (RESP) model perform in calculating the conformational energies of organic and biological molecules?, J. Comput. Chem., 21, 1049, 10.1002/1096-987X(200009)21:12<1049::AID-JCC3>3.0.CO;2-F Vargens, 2008, Distribution of the GNB3 825C>T polymorphism among Brazilians: impact of population structure, Eur. J. Clin. Pharmacol., 64, 253, 10.1007/s00228-007-0413-2 P.C. Santos, R.D. Cancado, C.T. Terada, S. Rostelato, I. Gonzales, R.D. Hirata, M.H. Hirata, C.S. Chiattone, and E.M. Guerra-Shinohara, HFE gene mutations and iron status of Brazilian blood donors. Braz J Med Biol Res 43 107-14. Brandhagen, 2000, Prevalence and clinical significance of HFE gene mutations in patients with iron overload, Am. J. Gastroenterol., 95, 2910, 10.1111/j.1572-0241.2000.03203.x Brissot, 1999, A genotypic study of 217 unrelated probands diagnosed as “genetic hemochromatosis” on “classical” phenotypic criteria, J. Hepatol., 30, 588, 10.1016/S0168-8278(99)80188-3 Datz, 1997, Predominance of the HLA-H Cys282Tyr mutation in Austrian patients with genetic haemochromatosis, J. Hepatol., 27, 773, 10.1016/S0168-8278(97)80312-1