Compound Heterozygous Hemochromatosis Genotype Predicts Increased Iron and Erythrocyte Indices in Women

作者: Enrico Rossi , John K Olynyk , Digby J Cullen , George Papadopoulos , Max Bulsara

DOI: 10.1093/CLINCHEM/46.2.162

关键词:

摘要: Background: Women who inherit heterozygosity for the C282Y mutation of HFE gene may have increased serum iron indices and hemoglobin are less likely to develop deficiency compared with women wild-type genotype. Methods: We performed a cross-sectional analysis 497 20–44 years age 830 >51 drawn from Busselton (Australia) population study assess effects genotype on hematology indices. Results: Heterozygosity occurred in 13.8% population, comprising 11.8% heterozygotes 2.0% C282Y/H63D compound heterozygotes. In younger group, did not significantly iron, transferrin saturation, or values, were protected developing deficiency, same genotype. Young heterozygous had higher means (25.0 vs 16.9 μmol/L; P 51 group. Conclusions: C282Y/H63D, but genotype, values group also values. conclude that beneficial effect protecting deficiency.

参考文章(19)
R Raha-Chowdhury, AT Merryweather-Clarke, A Bomford, JD Shearman, S Lawless, DJ Bowen, AK Burnett, DF Wallace, HA Jackson, Kjh Robson, M Worwood, R Williams, J Partridge, JJ Pointon, Wmc Rosenberg, JS Dooley, A Walker, A simple genetic test identifies 90% of UK patients with haemochromatosis Gut. ,vol. 41, pp. 841- 844 ,(1997)
Lara M. Cullen, Lesa Summerville, Tina V. Glassick, Darrell H.G. Crawford, Lawrie W. Powell, Elizabeth C. Jazwinska, Neonatal screening for the hemochromatosis defect. Blood. ,vol. 90, pp. 4236- 4237 ,(1997) , 10.1182/BLOOD.V90.10.4236
Jia-Horng Kao, Michael Wood, Pei-Jer Chen, Ming-Yang Lai, Ding-Shinn Chen, Comparison of two methods for quantification of hepatitis B viral DNA. Journal of Gastroenterology and Hepatology. ,vol. 14, pp. 423- 426 ,(2002) , 10.1046/J.1440-1746.1999.01885.X
Enrico Rossi, Sandra Henderson, Christine Chin, John Olynyk, John Beilby, William Reed, Gary Jeffrey, Genotyping as a diagnostic aid in genetic haemochromatosis Journal of Gastroenterology and Hepatology. ,vol. 14, pp. 427- 430 ,(2002) , 10.1046/J.1440-1746.1999.01884.X
B A Leggett, N N Brown, S J Bryant, L Duplock, L W Powell, J W Halliday, Factors affecting the concentrations of ferritin in serum in a healthy Australian population. Clinical Chemistry. ,vol. 36, pp. 1350- 1355 ,(1990) , 10.1093/CLINCHEM/36.7.1350
J Hastka, J J Lasserre, A Schwarzbeck, R Hehlmann, Central role of zinc protoporphyrin in staging iron deficiency. Clinical Chemistry. ,vol. 40, pp. 768- 773 ,(1994) , 10.1093/CLINCHEM/40.5.768
John K. Olynyk, Digby J. Cullen, Sina Aquilia, Enrico Rossi, Lesa Summerville, Lawrie W. Powell, A Population-Based Study of the Clinical Expression of the Hemochromatosis Gene The New England Journal of Medicine. ,vol. 341, pp. 718- 724 ,(1999) , 10.1056/NEJM199909023411002
V.K. Lee, D.B. Loeb, F.A. Mapa, E. McClelland, N.C. Meyer, G.A. Mintier, N. Moeller, T. Moore, E. Morikang, C.E. Prass, L. Quintana, S.M. Starnes, R.C. Schatzman, K.J. Brunke, D.T. Drayna, N.J. Risch, B.R. Bacon, R.K. Wolff, J.N. Feder, A. Gnirke, W. Thomas, Z. Tsuchihashi, D.A. Ruddy, A. Basava, F. Dormishian, R. Domingo, M.C. Ellis, A. Fullan, L.M. Hinton, N.L. Jones, B.E. Kimmel, G.S. Kronmal, P. Lauer, A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis Nature Genetics. ,vol. 13, pp. 399- 408 ,(1996) , 10.1038/NG0896-399
Alison T. Merryweather‐Clarke, Mark Worwood, Lisa Parkinson, Chris Mattock, Jennifer J. Pointon, Jeremy D. Shearman, Kathryn J. H. Robson, The effect of HFE mutations on serum ferritin and transferrin saturation in the Jersey population. British Journal of Haematology. ,vol. 101, pp. 369- 373 ,(1998) , 10.1046/J.1365-2141.1998.00736.X
Anne Marie Jouanolle, Gwenola Gandon, Pascal Jézéquel, Martine Blayau, Marie Laure Campion, Jacqueline Yaouanq, Jean Mosser, Patricia Fergelot, Bruno Chauvel, Pascale Bouric, Gwenaelle Carn, Nancy Andrieux, Isabelle Gicquel, Jean-Yves Le Gall, Véronique David, Haemochromatosis and HLA–H Nature Genetics. ,vol. 14, pp. 251- 252 ,(1996) , 10.1038/NG1196-251