The genetic basis of asymptomatic codon 8 frameâ shift (HBB:c25_26delAA) β0â thalassaemia homozygotes
dc.contributor.author | Jiang, Zhihua | |
dc.contributor.author | Luo, Hong‐yuan | |
dc.contributor.author | Huang, Shengwen | |
dc.contributor.author | Farrell, John J. | |
dc.contributor.author | Davis, Lance | |
dc.contributor.author | Théberge, Roger | |
dc.contributor.author | Benson, Katherine A. | |
dc.contributor.author | Riolueang, Suchada | |
dc.contributor.author | Viprakasit, Vip | |
dc.contributor.author | Al‐allawi, Nasir A.s. | |
dc.contributor.author | Ünal, Sule | |
dc.contributor.author | Gümrük, Fatma | |
dc.contributor.author | Akar, Nejat | |
dc.contributor.author | Başak, A. Nazli | |
dc.contributor.author | Osorio, Leonor | |
dc.contributor.author | Badens, Catherine | |
dc.contributor.author | Pissard, Serge | |
dc.contributor.author | Joly, Philippe | |
dc.contributor.author | Campbell, Andrew D. | |
dc.contributor.author | Gallagher, Patrick G. | |
dc.contributor.author | Steinberg, Martin H. | |
dc.contributor.author | Forget, Bernard G. | |
dc.contributor.author | Chui, David H.K. | |
dc.date.accessioned | 2016-10-17T21:17:18Z | |
dc.date.available | 2017-05-02T15:09:13Z | en |
dc.date.issued | 2016-03 | |
dc.identifier.citation | Jiang, Zhihua; Luo, Hong‐yuan ; Huang, Shengwen; Farrell, John J.; Davis, Lance; Théberge, Roger ; Benson, Katherine A.; Riolueang, Suchada; Viprakasit, Vip; Al‐allawi, Nasir A.s. ; Ünal, Sule ; Gümrük, Fatma ; Akar, Nejat; Başak, A. Nazli ; Osorio, Leonor; Badens, Catherine; Pissard, Serge; Joly, Philippe; Campbell, Andrew D.; Gallagher, Patrick G.; Steinberg, Martin H.; Forget, Bernard G.; Chui, David H.K. (2016). "The genetic basis of asymptomatic codon 8 frameâ shift (HBB:c25_26delAA) β0â thalassaemia homozygotes." British Journal of Haematology 172(6): 958-965. | |
dc.identifier.issn | 0007-1048 | |
dc.identifier.issn | 1365-2141 | |
dc.identifier.uri | https://hdl.handle.net/2027.42/134107 | |
dc.publisher | Wiley Periodicals, Inc. | |
dc.publisher | Blackwell Science | |
dc.subject.other | fetal haemoglobin | |
dc.subject.other | β0â Thalassaemia | |
dc.subject.other | 뱉 Thalassaemia | |
dc.subject.other | HBS1Lâ MYB intergenic polymorphism | |
dc.subject.other | HbF quantitative trait loci | |
dc.title | The genetic basis of asymptomatic codon 8 frameâ shift (HBB:c25_26delAA) β0â thalassaemia homozygotes | |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | |
dc.subject.hlbsecondlevel | Oncology and Hematology | |
dc.subject.hlbtoplevel | Health Sciences | |
dc.description.peerreviewed | Peer Reviewed | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/134107/1/bjh13909_am.pdf | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/134107/2/bjh13909-sup-0001-Supinfo.pdf | |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/134107/3/bjh13909.pdf | |
dc.identifier.doi | 10.1111/bjh.13909 | |
dc.identifier.source | British Journal of Haematology | |
dc.identifier.citedreference | Bauer, D.E., Kamran, S.C., Lessard, S., Xu, J., Fujiwara, Y., Lin, C., Shao, Z., Canver, M.C., Smith, E.C., Pinello, L., Sabo, P.J., Vierstra, J., Voit, R.A., Yuan, G.C., Porteus, M.H., Stamatoyannopoulos, J.A., Lettre, G. & Orkin, S.H. ( 2013 ) An erythroid enhancer of BCL11A  subject to genetic variation determines fetal hemoglobin level. Science, 342, 253 â 257. | |
dc.identifier.citedreference | Akinsheye, I., Alsultan, A., Solovieff, N., Ngo, D., Baldwin, C.T., Sebastiani, P., Chui, D.H.K. & Steinberg, M.H. ( 2011 ) Fetal hemoglobin in sickle cell anemia. Blood, 118, 19 â 27. | |
dc.identifier.citedreference | Cürük, M.A., Yüregir, G.T., Asadov, C.D., Dadasova, T., Gu, L.H., Baysal, E., Gu, Y.C., Ribeiro, M.L. & Huisman, T.H.J. ( 1992 ) Molecular characterization of βâ thalassemia in Azerbaijan. Human Genetics, 90, 417 â 419. | |
dc.identifier.citedreference | Chakalova, L., Osborne, C.S., Dai, Y.F., Goyenechea, B., Metaxotouâ Mavromati, A., Kattamis, A., Kattamis, C. & Fraser, P. ( 2005 ) The Corfu δβ thalassemia deletion disrupts γ globin gene silencing and reveals postâ transcriptional regulation of HbF expression. Blood, 105, 2154 â 2160. | |
dc.identifier.citedreference | Bianchi, E., Zini, R., Salati, S., Tenedini, E., Norfo, R., Tagliafico, E., Manfredini, R. & Ferrari, S. ( 2010 ) câ MYB supports erythropoiesis through the transactivation of KLF1 and LMO2 expression. Blood, 116, e99 â e110. | |
dc.identifier.citedreference | Alâ Allawi, N.A.S., Hassan, K.M., Sheikha, A.K., Nerweiy, F.F., Dawood, R.S. & Jubrael, J. ( 2010 ) βâ Thalassemia mutations among transfusionâ dependent thalassemia major patients in Northern Iraq. Molecular Biology International, 2010, 479282. | |
dc.identifier.citedreference | Zoueva, O.P., Garrett, L.J., Bodine, D. & Rodgers, G.P. ( 2008 ) BP1 motif in the human βâ globin promoter affects βâ globin expression during embryonic/fetal erythropoiesis in transgenic mice bearing the human βâ globin gene. Blood Cells, Molecules, and Diseases, 41, 244 â 251. | |
dc.identifier.citedreference | Weatherall, D.J. & Clegg, J.B. ( 2001 ) The Thalassaemia Syndromes, 4th edn. Blackwell Science, Oxford. | |
dc.identifier.citedreference | Thein, S.L. & Menzel, S. ( 2009 ) Discovering the genetics underlying foetal haemoglobin production in adults. British Journal of Haematology, 145, 455 â 467. | |
dc.identifier.citedreference | Tan, A.S., Quah, T.C., Low, P.S. & Chong, S.S. ( 2001 ) A rapid and reliable 7â deletion multiplex polymerase chain reaction assay for αâ thalassemia. Blood, 98, 250 â 251. | |
dc.identifier.citedreference | Stadhouders, R., Aktuna, S., Thongjuea, S., Aghajanirefah, A., Pourfarzad, F., van Ijcken, W., Lenhard, B., Rooks, H., Best, S., Menzel, S., Grosveld, F., Thein, S.L. & Soler, E. ( 2014 ) HBS1Lâ MYB intergenic variants moderate fetal hemoglobin via longâ range MYB enhancers. Journal of Clinical Investigation, 124, 1699 â 1710. | |
dc.identifier.citedreference | Orkin, S.H., Kazazian, H.H. Jr, Antonarakis, S.E., Goff, S.C., Boehm, C.D., Sexton, J.P., Waber, P.G. & Giardina, P.J. ( 1982 ) Linkage of βâ thalassaemia mutations and βâ globin gene polymorphisms with DNA polymorphisms in human βâ globin gene cluster. Nature, 296, 627 â 631. | |
dc.identifier.citedreference | Orkin, S.H. & Goff, S.C. ( 1981 ) Nonsense and frameshift mutations in βâ thalassemia detected in cloned βâ globin genes. Journal of Biological Chemistry, 256, 9782 â 9784. | |
dc.identifier.citedreference | à ner, C., Dimovski, A.J., Altay, C., Gurgey, A., Gu, Y.C., Huisman, T.H.J. & Lanclos, K.D. ( 1992 ) Sequence variations in the 5â ² hypersensitive siteâ 2 of the locus control region of β S chromosomes are associated with different levels of fetal globin in hemoglobin S homozygotes. Blood, 79, 813 â 819. | |
dc.identifier.citedreference | Nuinoon, M., Makarasara, W., Mushiroda, T., Setianingsih, I., Wahidiyat, P.A., Sripichai, O., Kumasaka, N., Takahashi, A., Svasti, S., Munkongdee, T., Mahasirimongkol, S., Peerapittayamongkol, C., Viprakasit, V., Kamatani, N., Winichagoon, P., Kubo, M., Nakamura, Y. & Fucharoen, S. ( 2010 ) A genomeâ wide association identified the common genetic variants influence disease severity in à 0â thalassemia/hemoglobin E. Human Genetics 127, 303 â 314. | |
dc.identifier.citedreference | Miller, B.A., Salameh, M., Ahmed, M., Wainscoat, J., Antognetti, G., Orkin, S.H., Weatherall, D.J. & Nathan, D.G. ( 1986 ) High fetal hemoglobin production in sickle cell anemia in the eastern province of Saudi Arabia is genetically determined. Blood, 67, 1404 â 1410. | |
dc.identifier.citedreference | Menzel, S., Jiang, J., Silver, N., Gallagher, J., Cunningham, J., Surdulescu, G., Lathrop, M., Farrall, M., Spector, T.D. & Thein, S.L. ( 2007b ) The HBS1Lâ MYB intergenic region on chromosome 6q23.3 influences erythrocyte, platelet, and monocyte counts in humans. Blood, 110, 3624 â 3626. | |
dc.identifier.citedreference | Menzel, S., Garner, C., Gut, I., Matsuda, F., Yamaguchi, M., Heath, S., Foglio, M., Zelenika, D., Boland, A., Rooks, H., Best, S., Spector, T.D., Farrall, M., Lathrop, M. & Thein, S.L. ( 2007a ) A QTL influencing F cell production maps to a gene encoding a zincâ finger protein on chromosome 2p15. Nature Genetics, 39, 1197 â 1199. | |
dc.identifier.citedreference | Lemsaddek, W., Picanco, I., Seuanes, F., Nogueira, P., Mahmal, L., Benchekroun, S., Khattab, M. & Osórioâ Almeida, L. ( 2004 ) The βâ thalassemia mutation/haplotype distribution in the Moroccan population. Hemoglobin, 28, 25 â 37. | |
dc.identifier.citedreference | Lemsaddek, W., Picanco, I., Seuanes, F., Mahmal, L., Benchekroun, S., Khattab, M., Nogueira, P. & Osórioâ Almeida, L. ( 2003 ) Spectrum of βâ thalassemia mutations and HbF levels in the heterozygous Moroccan population. American Journal of Hematology, 73, 161 â 168. | |
dc.identifier.citedreference | Kuliev, A.M., Rasulov, I.M., Dadasheva, T., Schwarz, E.I., Rosatelli, C., Saba, L., Meloni, A., Gemidjioglu, E., Petrou, M. & Modell, B. ( 1994 ) Thalassemia in Azerbaijan. Journal of Medical Genetics, 31, 209 â 212. | |
dc.identifier.citedreference | Jiang, J., Best, S., Menzel, S., Silver, N., Lai, M.I., Surdulescu, G.L., Spector, T.D. & Thein, S.L. ( 2006 ) cMYB is involved in the regulation of fetal hemoglobin production in adults. Blood, 108, 1077 â 1083. | |
dc.identifier.citedreference | Hamamy, H.A. & Alâ Allawi, N.A.S. ( 2013 ) Epideminological profile of common haemoglobinopathies in Arab countries. Journal of Community Genetics, 4, 147 â 167. | |
dc.identifier.citedreference | Gurgey, A., Altay, C., Diazâ Chico, J.C., Kutlar, F., Kutlar, A. & Huisman, T.H.J. ( 1989 ) Molecular heterogeneity of βâ thalassemia intermedia in Turkey. Acta Haematologica, 81, 22 â 27. | |
dc.identifier.citedreference | Ganesh, S.K., Zakai, N.A., van Rooij, F.J., Soranzo, N., Smith, A.V., Nalls, M.A., Chen, M.H., Kottgen, A., Glazer, N.L., Dehghan, A., Kuhnel, B., Aspelund, T., Yang, Q., Tanaka, T., Jaffe, A., Bis, J.C., Verwoert, G.C., Teumer, A., Fox, C.S., Guralnik, J.M., Ehret, G.B., Rice, K., Felix, J.F., Rendon, A., Eiriksdottir, G., Levy, D., Patel, K.V., Boerwinkle, E., Rotter, J.I., Hofman, A., Sambrook, J.G., Hernandez, D.G., Zheng, G., Bandinelli, S., Singleton, A.B., Coresh, J., Lumley, T., Uitterlinden, A.G., Vangils, J.M., Launer, L.J., Cupples, L.A., Oostra, B.A., Zwaginga, J.J., Ouwehand, W.H., Thein, S.L., Meisinger, C., Deloukas, P., Nauck, M., Spector, T.D., Gieger, C., Gudnason, V., van Duijn, C.M., Psaty, B.M., Ferrucci, L., Chakravarti, A., Greinacher, A., O’Donnell, C.J., Witteman, J.C., Furth, S., Cushman, M., Harris, T.B. & Lin, J.P. ( 2009 ) Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium. Nature Genetics, 41, 1191 â 1198. | |
dc.identifier.citedreference | Galarneau, G., Palmer, C.D., Sankaran, V.G., Orkin, S.H., Hirschhorn, J.N. & Lettre, G. ( 2010 ) Fineâ mapping at three loci known to affect fetal hemoglobin levels explains additional genetic variation. Nature Genetics, 42, 1049 â 1051. | |
dc.identifier.citedreference | Filon, D., Faerman, M., Smith, P. & Oppenheim, A. ( 1995 ) Sequence analysis reveals a βâ thalassemia mutation in the DNA of skeletal remains from the archaeological site of Akhziv, Israel. Nature Genetics, 9, 365 â 368. | |
dc.identifier.citedreference | Farrell, J.J., Sherva, R.M., Chen, Z.Y., Luo, H.Y., Chu, B.F., Ha, S.Y., Li, C.K., Lee, A.C., Li, R.C., Li, C.K., Yuen, H.L., So, J.C.C., Ma, E.S.K., Chan, L.C., Chan, V., Sebastiani, P., Farrer, L.A., Baldwin, C.T., Steinberg, M.H. & Chui, D.H.K. ( 2011 ) A 3â bp deletion in the HBS1Lâ MYB intergenic region on chromosome 6q23 is associated with HbF expression. Blood, 117, 4935 â 4945. | |
dc.identifier.citedreference | Ekwattanakit, S., Monteerarat, Y., Riolueang, S., Tachavanich, K. & Viprakasit, V. ( 2012 ) Association of Xmn I polymorphism and hemoglobin E haplotypes on postnatal γ globin gene expression in homozygous hemoglobin E. Advances in Hematology, 2012, 528075. | |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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