{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T15:01:19Z","timestamp":1761058879402},"reference-count":26,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2008,11,6]],"date-time":"2008-11-06T00:00:00Z","timestamp":1225929600000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["BMC Med Genet"],"published-print":{"date-parts":[[2008,12]]},"DOI":"10.1186\/1471-2350-9-97","type":"journal-article","created":{"date-parts":[[2008,11,6]],"date-time":"2008-11-06T14:14:07Z","timestamp":1225980847000},"source":"Crossref","is-referenced-by-count":19,"title":["A new 500 kb haplotype associated with high CD8+ T-lymphocyte numbers predicts a less severe expression of hereditary hemochromatosis"],"prefix":"10.1186","volume":"9","author":[{"given":"Eug\u00e9nia","family":"Cruz","sequence":"first","affiliation":[]},{"given":"Chris","family":"Whittington","sequence":"additional","affiliation":[]},{"given":"Samuel H","family":"Krikler","sequence":"additional","affiliation":[]},{"given":"Cl\u00e1udia","family":"Mascarenhas","sequence":"additional","affiliation":[]},{"given":"Rosa","family":"Lacerda","sequence":"additional","affiliation":[]},{"given":"Jorge","family":"Vieira","sequence":"additional","affiliation":[]},{"given":"Gra\u00e7a","family":"Porto","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2008,11,6]]},"reference":[{"key":"391_CR1","doi-asserted-by":"publisher","first-page":"2383","DOI":"10.1056\/NEJMra031573","volume":"350","author":"A Pietrangelo","year":"2004","unstructured":"Pietrangelo A: Hereditary hemochromatosis\u2013a new look at an old disease. N Engl J Med. 2004, 350: 2383-97. 10.1056\/NEJMra031573.","journal-title":"N Engl J Med"},{"key":"391_CR2","doi-asserted-by":"publisher","first-page":"399","DOI":"10.1038\/ng0896-399","volume":"13","author":"JN Feder","year":"1996","unstructured":"Feder JN, Gnirke A, Thomas W, Tsuchihashi Z, Ruddy DA, Basava A, Dormishian F, Domingo R, Ellis MC, Fullan A, Hinton LM, Jones NL, Kimmel BE, Kronmal GS, Lauer P, Lee VK, Loeb DB, Mapa FA, McClelland E, Meyer NC, Mintier GA, Moeller N, Moore T, Morikang E, Wolff RK: A novel MHC class I-like gene is mutated in patients with hereditary haemochromatosis. Nat Genet. 1996, 13: 399-408. 10.1038\/ng0896-399.","journal-title":"Nat Genet"},{"key":"391_CR3","doi-asserted-by":"publisher","first-page":"108","DOI":"10.1136\/gut.51.1.108","volume":"51","author":"E Ryan","year":"2002","unstructured":"Ryan E, Byrnes V, Coughlan B, Flanagan AM, Barrett S, O'Keane JC, Crowe J: Underdiagnosis of hereditary haemochromatosis: lack of presentation or penetration?. Gut. 2002, 51: 108-12. 10.1136\/gut.51.1.108.","journal-title":"Gut"},{"key":"391_CR4","doi-asserted-by":"publisher","first-page":"319","DOI":"10.1016\/S0016-5085(98)70483-4","volume":"114","author":"PC Adams","year":"1998","unstructured":"Adams PC, Chakrabarti S: Genotypic\/phenotypic correlations in genetic hemochromatosis: evolution of diagnostic criteria. Gastroenterology. 1998, 114: 319-323. 10.1016\/S0016-5085(98)70483-4.","journal-title":"Gastroenterology"},{"key":"391_CR5","doi-asserted-by":"publisher","first-page":"96","DOI":"10.1016\/S0016-5085(98)70319-1","volume":"114","author":"A Piperno","year":"1998","unstructured":"Piperno A, Sampietro M, Pietrangelo A, Arosio C, Lupica L, Montosi G, Vergani A, Fraquelli M, Girelli D, Pasquero P, Roetto A, Gasparini P, Fargion S, Conte D, Camaschella C: Heterogeneity of Hemochromatosis in Italy. Gastroenterology. 1998, 114: 96-1002. 10.1016\/S0016-5085(98)70319-1.","journal-title":"Gastroenterology"},{"key":"391_CR6","doi-asserted-by":"publisher","first-page":"761","DOI":"10.1136\/jmg.34.9.761","volume":"34","author":"DA Rhodes","year":"1997","unstructured":"Rhodes DA, Raha-Chowdhury R, Cox TM, Trowsdale J: Homozygosity for the predominant Cys282Tyr mutation and absence of disease expression in hereditary haemochromatosis. J Med Genet. 1997, 34: 761-4. 10.1136\/jmg.34.9.761.","journal-title":"J Med Genet"},{"key":"391_CR7","doi-asserted-by":"publisher","first-page":"309","DOI":"10.4065\/79.3.309","volume":"79","author":"JK Olynyk","year":"2004","unstructured":"Olynyk JK, Hagan SE, Cullen DJ, Beilby J, Whittall DE: Evolution of untreated hereditary hemochromatosis in the Busselton population: a 17-year study. Mayo Clin Proc. 2004, 79: 309-13.","journal-title":"Mayo Clin Proc"},{"key":"391_CR8","doi-asserted-by":"publisher","first-page":"2914","DOI":"10.1182\/blood-2003-10-3564","volume":"103","author":"RV Andersen","year":"2004","unstructured":"Andersen RV, Tybjaerg-Hansen A, Appleyard M, Birgens H, Nordestgaard BG: Hemochromatosis mutations in the general population: iron overload progression rate. Blood. 2004, 103: 2914-9. 10.1182\/blood-2003-10-3564.","journal-title":"Blood"},{"key":"391_CR9","doi-asserted-by":"publisher","first-page":"221","DOI":"10.1056\/NEJMoa073286","volume":"358","author":"KJ Allen","year":"2008","unstructured":"Allen KJ, Gurrin LC, Constantine CC, Osborne NJ, Delatycki MB, Nicoll AJ, McLaren CE, Bahlo M, Nisselle AE, Vulpe CD, Anderson GJ, Southey MC, Giles GG, English DR, Hopper JL, Olynyk JK, Powell LW, Gertig DM: Iron-overload-related disease in HFE hereditary hemochromatosis. N Engl J Med. 2008, 358: 221-30. 10.1056\/NEJMoa073286.","journal-title":"N Engl J Med"},{"key":"391_CR10","doi-asserted-by":"publisher","first-page":"1769","DOI":"10.1056\/NEJMoa041534","volume":"352","author":"PC Adams","year":"2005","unstructured":"Adams PC, Reboussin DM, Barton JC, McLaren CE, Eckfeld JH, McLaren GD, Dawkins FW, Acton RT, Harris EL, Gordeuk VR, Leiendecker-Foster C, Speechley M, Snively BM, Holup JL, Thomson E, Sholinsky P: Hemochromatosis and iron-overload screening in a racially diverse population. N Engl J Med. 2005, 352: 1769-78. 10.1056\/NEJMoa041534.","journal-title":"N Engl J Med"},{"key":"391_CR11","doi-asserted-by":"publisher","first-page":"211","DOI":"10.1016\/S0140-6736(02)07447-0","volume":"359","author":"E Beutler","year":"2002","unstructured":"Beutler E, Felitti VJ, Koziol JA, Ho NJ, Gelbart T: Penetrance of 845G--> A (C282Y) HFE hereditary haemochromatosis mutation in the USA. Lancet. 2002, 359: 211-8. 10.1016\/S0140-6736(02)07447-0.","journal-title":"Lancet"},{"key":"391_CR12","doi-asserted-by":"publisher","first-page":"314","DOI":"10.1016\/S0140-6736(05)63012-7","volume":"366","author":"MB Delatycki","year":"2005","unstructured":"Delatycki MB, Allen KJ, Nisselle AE, Collins V, Metcalfe S, du Sart D, Halliday J, Aitken MA, Macciocca I, Hill V, Wakefield A, Ritchie A, Gason AA, Nicoll AJ, Powell LW, Williamson R: Use of community genetic screening to prevent HFE-associated hereditary haemochromatosis. Lancet. 2005, 366: 314-6. 10.1016\/S0140-6736(05)63012-7.","journal-title":"Lancet"},{"key":"391_CR13","doi-asserted-by":"publisher","first-page":"1170","DOI":"10.1046\/j.1365-2141.2002.03718.x","volume":"118","author":"Y Deugnier","year":"2002","unstructured":"Deugnier Y, Jouanolle AM, Chaperon J, Moirand R, Pithois C, Meyer JF, Pouchard M, Lafraise B, Brigand A, Caserio-Schoenemann C, Mosser J, Adams P, Le Gall JY, David V: Gender-specific phenotypic expression and screening strategies in C282Y-linked haemochromatosis: a study of 9396 French people. Br J Haematol. 2002, 118: 1170-8. 10.1046\/j.1365-2141.2002.03718.x.","journal-title":"Br J Haematol"},{"key":"391_CR14","doi-asserted-by":"publisher","first-page":"718","DOI":"10.1056\/NEJM199909023411002","volume":"341","author":"JK Olynyk","year":"1999","unstructured":"Olynyk JK, Cullen DJ, Aquilia S, Rossi E, Summerville L, Powell LW: A population-based study of the clinical expression of the hemochromatosis gene. N Engl J Med. 1999, 341: 718-24. 10.1056\/NEJM199909023411002.","journal-title":"N Engl J Med"},{"key":"391_CR15","first-page":"481","volume":"313","author":"R Reim\u00e3o","year":"1991","unstructured":"Reim\u00e3o R, Porto G, De Sousa M: Stability of CD4\/CD8 ratios in man: new correlation between CD4\/CD8 profiles and iron overload in idiopathic hemochromatosis patients. C R Acad Sci Paris. 1991, 313: 481-483.","journal-title":"C R Acad Sci Paris"},{"key":"391_CR16","doi-asserted-by":"publisher","first-page":"283","DOI":"10.1111\/j.1600-0609.1994.tb00097.x","volume":"52","author":"G Porto","year":"1994","unstructured":"Porto G, Reim\u00e3o R, Gon\u00e7alves C, Vicente C, Justi\u00e7a B, de Sousa M: Haemochromatosis as a window into the study of the immunological system: a novel correlation between CD8+ lymphocytes and iron overload. Eur J Haematol. 1994, 52: 283-290.","journal-title":"Eur J Haematol"},{"key":"391_CR17","doi-asserted-by":"publisher","first-page":"397","DOI":"10.1002\/hep.510250223","volume":"25","author":"G Porto","year":"1997","unstructured":"Porto G, Vicente C, Teixeira MA, Martins O, Cabeda JM, Lacerda R, Goncalves C, Fraga J, Macedo G, Silva BM, Alves H, Justica B, de Sousa M: Relative impact of HLA phenotype and CD4\/CD8 ratios on the clinical expression of hemochromatosis. Hepatology. 1997, 25: 397-402. 10.1002\/hep.510250223.","journal-title":"Hepatology"},{"key":"391_CR18","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0168-8278(98)80367-X","volume":"28","author":"M De Sousa","year":"1998","unstructured":"De Sousa M, Porto G: The immunological system in hemochromatosis. J Hepatol. 1998, 28: 1-7. 10.1016\/S0168-8278(98)80367-X.","journal-title":"J Hepatol"},{"key":"391_CR19","doi-asserted-by":"publisher","first-page":"110","DOI":"10.1034\/j.1600-0609.2001.t01-1-00481.x","volume":"67","author":"G Porto","year":"2001","unstructured":"Porto G, Cardoso CS, Gordeu , Cruz E, Fraga J, Areias J, Oliveira JC, Bravo F, Gangaidzo IT, MacPhail AP, Gomo ZA, Moyo VM, Melo G, Silva C, Justica B, de Sousa M: Clinical and genetic heterogeneity in hereditary haemochromatosis: association between lymphocyte counts and expression of iron overload. Eur J Haematol. 2001, 67: 110-8. 10.1034\/j.1600-0609.2001.t01-1-00481.x.","journal-title":"Eur J Haematol"},{"key":"391_CR20","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/1471-2326-5-5","volume":"5","author":"JC Barton","year":"2005","unstructured":"Barton JC, Wiener HW, Acton R, Go RC: Total blood lymphocyte counts in hemochromatosis probands with HFE C282Y homozygosity: relationship to severity of iron overload and HLA-A and -B alleles and haplotypes. BMC Blood Disord. 2005, 5: 5-10.1186\/1471-2326-5-5.","journal-title":"BMC Blood Disord"},{"key":"391_CR21","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1111\/j.1399-0039.2004.00245.x","volume":"64","author":"E Cruz","year":"2004","unstructured":"Cruz E, Vieira J, Goncalves R, Alves H, Almeida S, Rodrigues P, Lacerda R, Porto G: Involvement of the major histocompatibility complex region in the genetic regulation of circulating CD8 T-cell numbers in humans. Tissue Antigens. 2004, 64: 25-34. 10.1111\/j.1399-0039.2004.00245.x.","journal-title":"Tissue Antigens"},{"key":"391_CR22","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1186\/1471-2350-7-16","volume":"7","author":"E Cruz","year":"2006","unstructured":"Cruz E, Vieira J, Almeida S, Lacerda R, Gartner A, Cardoso CS, Alves H, Porto G: A study of 82 extended HLA haplotypes in HFE-C282Y homozygous hemochromatosis subjects: relationship to the genetic control of CD8+ T-lymphocyte numbers and severity of iron overload. BMC Med Genet. 2006, 7: 16-10.1186\/1471-2350-7-16.","journal-title":"BMC Med Genet"},{"key":"391_CR23","doi-asserted-by":"publisher","first-page":"359","DOI":"10.1111\/j.1744-313X.2007.00700.x","volume":"34","author":"J Vieira","year":"2007","unstructured":"Vieira J, Cardoso CS, Pinto J, Patil K, Brazdil P, Cruz E, Mascarenhas C, Lacerda R, Gartner A, Almeida S, Alves H, Porto G: A putative gene located at the MHC class I region around the D6S105 marker contributes to the setting of CD8+ T-lymphocyte numbers in humans. Int J Immunogenet. 2007, 34: 359-67. 10.1111\/j.1744-313X.2007.00700.x.","journal-title":"Int J Immunogenet"},{"key":"391_CR24","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1016\/S0168-8278(99)80161-5","volume":"31","author":"R Pratiwi","year":"1999","unstructured":"Pratiwi R, Fletcher LM, Pyper W, Do KA, Crawford DH, Powell LW, Jazwinska EC: Linkage disequilibrium analysis in Australian haemochromatosis patients indicates bipartite association with clinical expression. J Hepatol. 1999, 31: 39-46. 10.1016\/S0168-8278(99)80161-5.","journal-title":"J Hepatol"},{"key":"391_CR25","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1172\/JCI102639","volume":"31","author":"D Haskins","year":"1952","unstructured":"Haskins D, Stevens AR, Finch S, Finch CA: Iron metabolism; iron stores in man as measured by phlebotomy. J Clin Invest. 1952, 31: 543-7. 10.1172\/JCI102639.","journal-title":"J Clin Invest"},{"key":"391_CR26","doi-asserted-by":"publisher","first-page":"33","DOI":"10.1016\/j.bcmd.2006.04.004","volume":"37","author":"E Cruz","year":"2006","unstructured":"Cruz E, Melo G, Lacerda R, Almeida S, Porto G: The CD8+ T-lymphocyte profile as a modifier of iron overload in HFE hemochromatosis: an update of clinical and immunological data from 70 C282Y homozygous subjects. Blood Cells Mol Dis. 2006, 37: 33-9. 10.1016\/j.bcmd.2006.04.004.","journal-title":"Blood Cells Mol Dis"}],"container-title":["BMC Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-9-97.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/article\/10.1186\/1471-2350-9-97\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/link.springer.com\/content\/pdf\/10.1186\/1471-2350-9-97","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2016,7,9]],"date-time":"2016-07-09T18:21:10Z","timestamp":1468088470000},"score":1,"resource":{"primary":{"URL":"http:\/\/bmcmedgenet.biomedcentral.com\/articles\/10.1186\/1471-2350-9-97"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,11,6]]},"references-count":26,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["391"],"URL":"https:\/\/doi.org\/10.1186\/1471-2350-9-97","relation":{},"ISSN":["1471-2350"],"issn-type":[{"value":"1471-2350","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,11,6]]},"article-number":"97"}}