{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,11]],"date-time":"2026-11-11T07:56:17Z","timestamp":1794383777304,"version":"4.9.0"},"publisher-location":"Totowa, NJ","reference-count":84,"publisher":"Humana Press","isbn-type":[{"value":"9781617379536","type":"print"},{"value":"9781617379543","type":"electronic"}],"license":[{"start":{"date-parts":[[2010,11,7]],"date-time":"2010-11-07T00:00:00Z","timestamp":1289088000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2010,11,7]],"date-time":"2010-11-07T00:00:00Z","timestamp":1289088000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2011]]},"DOI":"10.1007\/978-1-61737-954-3_19","type":"book-chapter","created":{"date-parts":[[2011,1,3]],"date-time":"2011-01-03T13:34:13Z","timestamp":1294061653000},"page":"291-307","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Genetic Predisposition to \u03b2-Thalassemia and Sickle Cell Anemia in Turkey: A Molecular Diagnostic Approach"],"prefix":"10.1007","author":[{"given":"A. Nazli","family":"Basak","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sukru","family":"Tuzmen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2010,11,7]]},"reference":[{"key":"19_CR1_19","volume-title":"The thalassemias","author":"D Weatherall","year":"1994","unstructured":"Weatherall D (1994) The thalassemias. WB Saunders, Philadelphia"},{"key":"19_CR2_19","doi-asserted-by":"publisher","first-page":"19","DOI":"10.1054\/blre.2001.0147","volume":"15","author":"S Tuzmen","year":"2001","unstructured":"Tuzmen S, Schechter AN (2001) Genetic \u00addiseases of hemoglobin: diagnostic methods for elucidating beta-thalassemia mutations. Blood Rev 15:19\u201329","journal-title":"Blood Rev"},{"key":"19_CR3_19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/S0950-3536(98)80069-3","volume":"11","author":"J Flint","year":"1998","unstructured":"Flint J, Harding RM, Boyce AJ, Clegg JB (1998) The population genetics of the haemoglobinopathies. Bailli\u00e8res Clin Haematol 11:1\u201351","journal-title":"Bailli\u00e8res Clin Haematol"},{"issue":"1","key":"19_CR4_19","doi-asserted-by":"publisher","first-page":"35","DOI":"10.1182\/asheducation-2002.1.35","volume":"2002","author":"DJ Weatherall","year":"2002","unstructured":"Weatherall DJ, Miller LH, Baruch DI, Marsh K, Doumbo OK, Casals-Pascual C, Roberts DJ (2002) Malaria and the red cell. Hematology Am Soc Hematol Educ Program 2002(1):35\u201357","journal-title":"Hematology Am Soc Hematol Educ Program"},{"key":"19_CR5_19","doi-asserted-by":"publisher","first-page":"233","DOI":"10.1080\/03630260701296735","volume":"31","author":"AN Basak","year":"2007","unstructured":"Basak AN (2007) The molecular pathology of beta-thalassemia in Turkey: the Bogazici \u00aduniversity experience. Hemoglobin 31:233\u2013241","journal-title":"Hemoglobin"},{"issue":"8","key":"19_CR6_19","first-page":"704","volume":"79","author":"DJ Weatherall","year":"2001","unstructured":"Weatherall, DJ, Clegg JB (2001) Inherited haemoglobin disorders: an increasing global health problem. Bull. World Health Organ. [online] 79(8):704\u2013712. ISSN 0042-9686.","journal-title":"Bull. World Health Organ. [online]"},{"key":"19_CR7_19","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1136\/bmj.1.4857.290","volume":"1","author":"AC Allison","year":"1954","unstructured":"Allison AC (1954) Protection afforded by sickle-cell trait against subtertian malareal infection. Br Med J 1:290\u2013294","journal-title":"Br Med J"},{"key":"19_CR8_19","doi-asserted-by":"publisher","first-page":"1295","DOI":"10.1100\/tsw.2008.157","volume":"8","author":"MH Steinberg","year":"2008","unstructured":"Steinberg MH (2008) Sickle cell anemia, the first molecular disease: overview of molecular etio\u00adlogy, pathophysiology, and therapeutic approaches. Scientific World Journal 8:1295\u20131324","journal-title":"ScientificWorldJournal"},{"key":"19_CR9_19","doi-asserted-by":"publisher","first-page":"543","DOI":"10.1126\/science.110.2865.543","volume":"110","author":"L Pauling","year":"1949","unstructured":"Pauling L, Itano HA, Singer SJ, Wells IC (1949) Sickle cell anemia a molecular disease. Science 110:543\u2013548","journal-title":"Science"},{"key":"19_CR10_19","doi-asserted-by":"publisher","first-page":"326","DOI":"10.1038\/180326a0","volume":"180","author":"VM Ingram","year":"1957","unstructured":"Ingram VM (1957) Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglobin. Nature 180:326\u2013328","journal-title":"Nature"},{"key":"19_CR11_19","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1038\/178792a0","volume":"178","author":"VM Ingram","year":"1956","unstructured":"Ingram VM (1956) A specific chemical difference between the globins of normal human and sickle-cell anaemia haemoglobin. Nature 178:792\u2013794","journal-title":"Nature"},{"key":"19_CR12_19","doi-asserted-by":"publisher","first-page":"179","DOI":"10.1016\/S0022-2836(75)80108-2","volume":"98","author":"BC Wishner","year":"1975","unstructured":"Wishner BC, Ward KB, Lattman EE, Love WE (1975) Crystal structure of sickle-cell deoxyhemoglobin at 5 A resolution. J Mol Biol 98:179\u2013194","journal-title":"J Mol Biol"},{"key":"19_CR13_19","doi-asserted-by":"crossref","first-page":"8280","DOI":"10.1016\/S0021-9258(17)39467-X","volume":"260","author":"EA Padlan","year":"1985","unstructured":"Padlan EA, Love WE (1985) Refined crystal structure of deoxyhemoglobin S. II. Molecular interactions in the crystal. J Biol Chem 260:8280\u20138291","journal-title":"J Biol Chem"},{"key":"19_CR14_19","doi-asserted-by":"publisher","first-page":"3927","DOI":"10.1182\/blood-2008-04-078188","volume":"112","author":"AN Schechter","year":"2008","unstructured":"Schechter AN (2008) Hemoglobin research and the origins of molecular medicine. Blood 112:3927\u20133938","journal-title":"Blood"},{"key":"19_CR15_19","doi-asserted-by":"crossref","first-page":"1057","DOI":"10.1182\/blood.V58.6.1057.1057","volume":"58","author":"CT Noguchi","year":"1981","unstructured":"Noguchi CT, Schechter AN (1981) The intracellular polymerization of sickle hemoglobin and its relevance to sickle cell disease. Blood 58:1057\u20131068","journal-title":"Blood"},{"key":"19_CR16_19","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1182\/blood.V70.5.1245.1245","volume":"70","author":"WA Eaton","year":"1987","unstructured":"Eaton WA, Hofrichter J (1987) Hemoglobin S gelation and sickle cell disease. Blood 70:1245\u20131266","journal-title":"Blood"},{"key":"19_CR17_19","doi-asserted-by":"publisher","first-page":"506","DOI":"10.1038\/272506a0","volume":"272","author":"G Dykes","year":"1978","unstructured":"Dykes G, Crepeau RH, Edelstein SJ (1978) Three-dimensional reconstruction of the fibres of sickle cell haemoglobin. Nature 272:506\u2013510","journal-title":"Nature"},{"key":"19_CR18_19","doi-asserted-by":"publisher","first-page":"616","DOI":"10.1038\/274616a0","volume":"274","author":"RH Crepeau","year":"1978","unstructured":"Crepeau RH, Dykes G, Garrell R, Edelstein SJ (1978) Diameter of haemoglobin S fibres in sickled cells. Nature 274:616\u2013617","journal-title":"Nature"},{"key":"19_CR19_19","doi-asserted-by":"publisher","first-page":"189","DOI":"10.1002\/ajh.21048","volume":"83","author":"P Sebastiani","year":"2008","unstructured":"Sebastiani P, Wang L, Nolan VG, Melista E, Ma Q, Baldwin CT, Steinberg MH (2008) Fetal hemoglobin in sickle cell anemia: Bayesian modeling of genetic associations. Am J Hematol 83:189\u2013195","journal-title":"Am J Hematol"},{"key":"19_CR20_19","doi-asserted-by":"publisher","first-page":"419","DOI":"10.1097\/00000441-194804000-00008","volume":"215","author":"J Watson","year":"1948","unstructured":"Watson J (1948) The significance of the paucity of sickle cells in newborn Negro infants. Am J Med Sci 215:419\u2013423","journal-title":"Am J Med Sci"},{"key":"19_CR21_19","doi-asserted-by":"publisher","first-page":"487","DOI":"10.1126\/science.2448875","volume":"239","author":"RK Saiki","year":"1988","unstructured":"Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487\u2013491","journal-title":"Science"},{"key":"19_CR22_19","doi-asserted-by":"publisher","first-page":"153","DOI":"10.1007\/978-1-59745-298-4_13","volume":"132","author":"C Salvado","year":"2007","unstructured":"Salvado C, Cram D (2007) Microarray technology for mutation analysis of low-template DNA samples. Methods Mol Med 132:153\u2013173","journal-title":"Methods Mol Med"},{"key":"19_CR23_19","doi-asserted-by":"publisher","first-page":"933","DOI":"10.1016\/j.bios.2004.10.033","volume":"21","author":"S Eaker","year":"2005","unstructured":"Eaker S, Johnson M, Jenkins J, Bauer M, Little S (2005) Detection of CFTR mutations using ARMS and low-density microarrays. Biosens Bioelectron 21:933\u2013939","journal-title":"Biosens Bioelectron"},{"key":"19_CR24_19","doi-asserted-by":"publisher","first-page":"386","DOI":"10.3343\/kjlm.2008.28.5.386","volume":"28","author":"Y Park","year":"2008","unstructured":"Park Y, Kim J, Choi JR, Song J, Chung JS, Lee KA (2008) Evaluation of multiplex PCR assay using dual priming oligonucleotide system for detection mutation in the Duchenne muscular dystrophy gene. Korean J Lab Med 28:386\u2013391","journal-title":"Korean J Lab Med"},{"key":"19_CR25_19","doi-asserted-by":"publisher","first-page":"1100","DOI":"10.1002\/humu.20841","volume":"29","author":"D del Gaudio","year":"2008","unstructured":"del Gaudio D, Yang Y, Boggs BA, Schmitt ES, Lee JA, Sahoo T, Pham HT, Wiszniewska J, Chinault AC, Beaudet AL, Eng CM (2008) Molecular diagnosis of Duchenne\/Becker muscular dystrophy: enhanced detection of dystrophin gene rearrangements by oligonucleotide array-comparative genomic hybridization. Hum Mutat 29:1100\u20131107","journal-title":"Hum Mutat"},{"key":"19_CR26_19","doi-asserted-by":"publisher","first-page":"1083","DOI":"10.1002\/humu.20829","volume":"29","author":"Y Saillour","year":"2008","unstructured":"Saillour Y, Cossee M, Leturcq F, Vasson A, Beugnet C, Poirier K, Commere V, Sublemontier S, Viel M, Letourneur F, Barbot JC, Deburgrave N, Chelly J, Bienvenu T (2008) Detection of exonic copy-number changes using a highly efficient oligonucleotide-based comparative genomic hybridization-array method. Hum Mutat 29:1083\u20131090","journal-title":"Hum Mutat"},{"key":"19_CR27_19","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1373\/clinchem.2007.097881","volume":"54","author":"A Trimarco","year":"2008","unstructured":"Trimarco A, Torella A, Piluso G, Maria Ventriglia V, Politano L, Nigro V (2008) \u00adLog-PCR: a new tool for immediate and cost-effective diagnosis of up to 85% of dystrophin gene mutations. Clin Chem 54:973\u2013981","journal-title":"Clin Chem"},{"key":"19_CR28_19","doi-asserted-by":"publisher","first-page":"1091","DOI":"10.1002\/humu.20831","volume":"29","author":"MR Hegde","year":"2008","unstructured":"Hegde MR, Chin EL, Mulle JG, Okou DT, Warren ST, Zwick ME (2008) Microarray-based mutation detection in the dystrophin gene. Hum Mutat 29:1091\u20131099","journal-title":"Hum Mutat"},{"key":"19_CR29_19","doi-asserted-by":"publisher","first-page":"268","DOI":"10.1101\/gr.3.5.268","volume":"3","author":"II Haris","year":"1994","unstructured":"Haris II, Green PM, Bentley DR, Giannelli F (1994) Mutation detection by fluorescent chemical cleavage: application to hemophilia B. PCR Methods Appl 3:268\u2013271","journal-title":"PCR Methods Appl"},{"key":"19_CR30_19","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/0049-3848(91)90138-M","volume":"63","author":"T Matsushita","year":"1991","unstructured":"Matsushita T, Tanimoto M, Yamamoto K, Sugiura I, Takamatsu J, Kamiya T, Saito H (1991) Direct carrier detection in hemophilia B kindreds: use of modified primers (mutagenic primers) for enzymatic amplification of the factor IX gene. Thromb Res 63:355\u2013361","journal-title":"Thromb Res"},{"key":"19_CR31_19","doi-asserted-by":"publisher","first-page":"27","DOI":"10.1016\/j.mrgentox.2009.05.003","volume":"677","author":"Y Hu","year":"2009","unstructured":"Hu Y, Le Leu RK, Young GP (2009) Detection of K-ras mutations in azoxymethane-induced aberrant crypt foci in mice using LNA-mediated real-time PCR clamping and mutant-specific probes. Mutat Res 677:27\u201332","journal-title":"Mutat Res"},{"key":"19_CR32_19","doi-asserted-by":"publisher","first-page":"93","DOI":"10.2353\/jmoldx.2009.080094","volume":"11","author":"E Lyon","year":"2009","unstructured":"Lyon E, Wittwer CT (2009) LightCycler technology in molecular diagnostics. J Mol Diagn 11:93\u2013101","journal-title":"J Mol Diagn"},{"key":"19_CR33_19","first-page":"217","volume":"19","author":"C Willmore-Payne","year":"2008","unstructured":"Willmore-Payne C, Holden JA, Wittwer CT, Layfield LJ (2008) The use of EGFR exon 19 and 21 unlabeled DNA probes to screen for activating mutations in non-small cell lung cancer. J Biomol Tech 19:217\u2013224","journal-title":"J Biomol Tech"},{"key":"19_CR34_19","doi-asserted-by":"crossref","first-page":"1673","DOI":"10.1182\/blood.V83.6.1673.1673","volume":"83","author":"JE Craig","year":"1994","unstructured":"Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL (1994) Rapid detection of deletions causing delta beta thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood 83:1673\u20131682","journal-title":"Blood"},{"key":"19_CR35_19","volume-title":"Hemoglobin switching","author":"G Stamatoyannopoulos","year":"1994","unstructured":"Stamatoyannopoulos G, Nienhuis AW (1994) Hemoglobin switching. WB Saunders, Philadelphia"},{"key":"19_CR36_19","doi-asserted-by":"publisher","first-page":"99","DOI":"10.3109\/03630269809092135","volume":"22","author":"TH Huisman","year":"1998","unstructured":"Huisman TH, Carver MF (1998) Recombinant hemoglobin variants. Hemoglobin 22:99\u2013112","journal-title":"Hemoglobin"},{"key":"19_CR37_19","doi-asserted-by":"publisher","first-page":"2503","DOI":"10.1093\/nar\/17.7.2503","volume":"17","author":"CR Newton","year":"1989","unstructured":"Newton CR, Graham A, Heptinstall LE, Powell SJ, Summers C, Kalsheker N, Smith JC, Markham AF (1989) Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17:2503\u20132516","journal-title":"Nucleic Acids Res"},{"key":"19_CR38_19","doi-asserted-by":"publisher","first-page":"834","DOI":"10.1016\/0140-6736(90)92338-I","volume":"336","author":"JM Old","year":"1990","unstructured":"Old JM, Varawalla NY, Weatherall DJ (1990) Rapid detection and prenatal diagnosis of beta-thalassaemia: studies in Indian and Cypriot populations in the UK. Lancet 336:834\u2013837","journal-title":"Lancet"},{"key":"19_CR39_19","doi-asserted-by":"publisher","first-page":"627","DOI":"10.1007\/BF00420951","volume":"92","author":"MC Romey","year":"1993","unstructured":"Romey MC, Aguilar-Martinez P, Demaille J, Claustres M (1993) Rapid detection of single nucleotide deletions: application to the beta 6 (-A) mutation of the beta-globin gene and to cystic fibrosis. Hum Genet 92:627\u2013628","journal-title":"Hum Genet"},{"key":"19_CR40_19","doi-asserted-by":"publisher","first-page":"363","DOI":"10.1136\/jmg.26.6.363","volume":"26","author":"M Pirastu","year":"1989","unstructured":"Pirastu M, Ristaldi MS, Cao A (1989) Prenatal diagnosis of beta thalassaemia based on restriction endonuclease analysis of amplified fetal DNA. J Med Genet 26:363\u2013367","journal-title":"J Med Genet"},{"key":"19_CR41_19","doi-asserted-by":"publisher","first-page":"629","DOI":"10.1002\/pd.1970090906","volume":"9","author":"MS Ristaldi","year":"1989","unstructured":"Ristaldi MS, Pirastu M, Rosatelli C, Monni G, Erlich H, Saiki R, Cao A (1989) Prenatal diagnosis of beta-thalassaemia in Mediterranean populations by dot blot analysis with DNA amplification and allele specific oligonucleotide probes. Prenat Diagn 9:629\u2013638","journal-title":"Prenat Diagn"},{"key":"19_CR42_19","doi-asserted-by":"crossref","first-page":"239","DOI":"10.1182\/blood.V81.1.239.239","volume":"81","author":"A Maggio","year":"1993","unstructured":"Maggio A, Giambona A, Cai SP, Wall J, Kan YW, Chehab FF (1993) Rapid and simultaneous typing of hemoglobin S, hemoglobin C, and seven Mediterranean beta-thalassemia mutations by covalent reverse dot-blot analysis: application to prenatal diagnosis in Sicily. Blood 81:239\u2013242","journal-title":"Blood"},{"key":"19_CR43_19","doi-asserted-by":"crossref","first-page":"1580","DOI":"10.1182\/blood.V86.4.1580.bloodjournal8641580","volume":"86","author":"P Sutcharitchan","year":"1995","unstructured":"Sutcharitchan P, Saiki R, Huisman TH, Kutlar A, McKie V, Erlich H, Embury SH (1995) Reverse dot-blot detection of the African-American beta-thalassemia mutations. Blood 86:1580\u20131585","journal-title":"Blood"},{"key":"19_CR44_19","doi-asserted-by":"publisher","first-page":"269","DOI":"10.1111\/j.1365-2141.1990.tb07883.x","volume":"76","author":"M Losekoot","year":"1990","unstructured":"Losekoot M, Fodde R, Harteveld CL, van Heeren H, Giordano PC, Bernini LF (1990) Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: a rapid and reliable diagnostic approach to beta thalassaemia. Br J Haematol 76:269\u2013274","journal-title":"Br J Haematol"},{"key":"19_CR45_19","doi-asserted-by":"publisher","first-page":"232","DOI":"10.1073\/pnas.86.1.232","volume":"86","author":"VC Sheffield","year":"1989","unstructured":"Sheffield VC, Cox DR, Lerman LS, Myers RM (1989) Attachment of a 40-base-pair G + C-rich sequence (GC-clamp) to genomic DNA fragments by the polymerase chain reaction results in improved detection of single-base changes. Proc Natl Acad Sci USA 86:232\u2013236","journal-title":"Proc Natl Acad Sci USA"},{"key":"19_CR46_19","doi-asserted-by":"publisher","first-page":"5463","DOI":"10.1073\/pnas.74.12.5463","volume":"74","author":"F Sanger","year":"1977","unstructured":"Sanger F, Nicklen S, Coulson AR (1977) DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463\u20135467","journal-title":"Proc Natl Acad Sci USA"},{"key":"19_CR47_19","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1038\/4469","volume":"21","author":"JG Hacia","year":"1999","unstructured":"Hacia JG (1999) Resequencing and mutational analysis using oligonucleotide microarrays. Nat Genet 21:42\u201347","journal-title":"Nat Genet"},{"key":"19_CR48_19","doi-asserted-by":"publisher","first-page":"20","DOI":"10.1038\/4447","volume":"21","author":"RJ Lipshutz","year":"1999","unstructured":"Lipshutz RJ, Fodor SP, Gingeras TR, Lockhart DJ (1999) High density synthetic oligonucleotide arrays. Nat Genet 21:20\u201324","journal-title":"Nat Genet"},{"key":"19_CR49_19","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1002\/(SICI)1097-0223(199603)16:3<252::AID-PD839>3.0.CO;2-W","volume":"16","author":"S Tuzmen","year":"1996","unstructured":"Tuzmen S, Tadmouri GO, Ozer A, Baig SM, Ozcelik H, Basaran S, Basak AN (1996) Prenatal diagnosis of beta-thalassaemia and sickle cell anaemia in Turkey. Prenat Diagn 16:252\u2013258","journal-title":"Prenat Diagn"},{"key":"19_CR50_19","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1002\/ajh.21033","volume":"83","author":"MH Steinberg","year":"2008","unstructured":"Steinberg MH (2008) Clinical trials in sickle cell disease: adopting the combination chemotherapy paradigm. Am J Hematol 83:1\u20133","journal-title":"Am J Hematol"},{"key":"19_CR51_19","doi-asserted-by":"crossref","first-page":"3198","DOI":"10.1182\/blood.V84.9.3198.3198","volume":"84","author":"G Stamatoyannopoulos","year":"1994","unstructured":"Stamatoyannopoulos G, Blau CA, Nakamoto B, Josephson B, Li Q, Liakopoulou E, Pace B, Papayannopoulou T, Brusilow SW, Dover G (1994) Fetal hemoglobin induction by acetate, a product of butyrate catabolism. Blood 84:3198\u20133204","journal-title":"Blood"},{"key":"19_CR52_19","doi-asserted-by":"publisher","first-page":"925","DOI":"10.1517\/13543784.10.5.925","volume":"10","author":"GP Rodgers","year":"2001","unstructured":"Rodgers GP, Saunthararajah Y (2001) Advances in experimental treatment of beta-thalassaemia. Expert Opin Investig Drugs 10:925\u2013934","journal-title":"Expert Opin Investig Drugs"},{"key":"19_CR53_19","first-page":"281","volume":"316B","author":"GP Rodgers","year":"1989","unstructured":"Rodgers GP, Dover GJ, Noguchi CT, Schechter AN, Nienhuis AW (1989) Induction of fetal hemoglobin in sickle cell patients by hydroxyurea: the N.I.H. experience. Prog Clin Biol Res 316B:281\u2013293","journal-title":"Prog Clin Biol Res"},{"key":"19_CR54_19","first-page":"713","volume":"2","author":"GP Rodgers","year":"2004","unstructured":"Rodgers GP (2004) Hydroxyurea and new agents for the treatment of sickle cell disease. Clin Adv Hematol Oncol 2:713\u2013715","journal-title":"Clin Adv Hematol Oncol"},{"key":"19_CR55_19","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1016\/S0950-3536(98)80077-2","volume":"11","author":"GP Rodgers","year":"1998","unstructured":"Rodgers GP (1998) Pharmacological therapy. Bailli\u00e8res Clin Haematol 11:239\u2013255","journal-title":"Bailli\u00e8res Clin Haematol"},{"key":"19_CR56_19","doi-asserted-by":"publisher","first-page":"1727","DOI":"10.1002\/dvdy.20802","volume":"235","author":"BS Pace","year":"2006","unstructured":"Pace BS, Zein S (2006) Understanding mechanisms of gamma-globin gene regulation to develop strategies for pharmacological fetal hemoglobin induction. Dev Dyn 235:1727\u20131737","journal-title":"Dev Dyn"},{"key":"19_CR57_19","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1182\/blood.V96.1.321","volume":"96","author":"E Skarpidi","year":"2000","unstructured":"Skarpidi E, Vassilopoulos G, Li Q, Stamatoyannopoulos G (2000) Novel in vitro assay for the detection of pharmacologic inducers of fetal hemoglobin. Blood 96:321\u2013326","journal-title":"Blood"},{"key":"19_CR58_19","doi-asserted-by":"crossref","first-page":"1963","DOI":"10.1182\/blood.V74.6.1963.1963","volume":"74","author":"P Constantoulakis","year":"1989","unstructured":"Constantoulakis P, Knitter G, Stamatoyannopoulos G (1989) On the induction of fetal hemoglobin by butyrates: in vivo and in vitro studies with sodium butyrate and comparison of combination treatments with 5-AzaC and AraC. Blood 74:1963\u20131971","journal-title":"Blood"},{"key":"19_CR59_19","doi-asserted-by":"publisher","first-page":"701","DOI":"10.1182\/blood-2003-02-0478","volume":"103","author":"H Cao","year":"2004","unstructured":"Cao H, Stamatoyannopoulos G, Jung M (2004) Induction of human gamma globin gene expression by histone deacetylase inhibitors. Blood 103:701\u2013709","journal-title":"Blood"},{"key":"19_CR60_19","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1182\/blood.V95.3.863.003k12_863_869","volume":"95","author":"RD Smith","year":"2000","unstructured":"Smith RD, Li J, Noguchi CT, Schechter AN (2000) Quantitative PCR analysis of HbF inducers in primary human adult erythroid cells. Blood 95:863\u2013869","journal-title":"Blood"},{"key":"19_CR61_19","volume-title":"Hemoglobinapati ve talasemi","author":"A Arcasoy","year":"2003","unstructured":"Arcasoy A, Canatan D, K\u00f6se MR, \u00dcst\u00fcndag M (2003) Hemoglobinapati ve talasemi. National Hemoglobinopathy Council of Turkey, Ankara"},{"key":"19_CR62_19","volume-title":"Molecular investigation of rare \u03b2-thalassemia mutations in Turkey: application of non-isotopic diagnostic approaches and genomic sequencing","author":"S Tuzmen","year":"1995","unstructured":"Tuzmen S (1995) Molecular investigation of rare \u03b2-thalassemia mutations in Turkey: application of non-isotopic diagnostic approaches and genomic sequencing. Molecular Biology and Genetics Department, Bogazici University, Istanbul"},{"key":"19_CR63_19","doi-asserted-by":"publisher","first-page":"227","DOI":"10.1081\/HEM-100104031","volume":"25","author":"GO Tadmouri","year":"2001","unstructured":"Tadmouri GO, Basak AN (2001) Beta-thalassemia in Turkey: a review of the clinical, epidemiological, molecular, and evolutionary aspects. Hemoglobin 25:227\u2013239","journal-title":"Hemoglobin"},{"key":"19_CR64_19","doi-asserted-by":"publisher","first-page":"215","DOI":"10.1002\/(SICI)1096-8652(199803)57:3<215::AID-AJH6>3.0.CO;2-Y","volume":"57","author":"GO Tadmouri","year":"1998","unstructured":"Tadmouri GO, Tuzmen S, Ozcelik H, Ozer A, Baig SM, Senga EB, Basak AN (1998) Molecular and population genetic analyses of beta-thalassemia in Turkey. Am J Hematol 57:215\u2013220","journal-title":"Am J Hematol"},{"key":"19_CR65_19","doi-asserted-by":"publisher","first-page":"661","DOI":"10.1353\/hub.2001.0075","volume":"73","author":"GO Tadmouri","year":"2001","unstructured":"Tadmouri GO, Garguier N, Demont J, Perrin P, Basak AN (2001) History and origin of beta-thalassemia in Turkey: sequence haplotype diversity of beta-globin genes. Hum Biol 73:661\u2013674","journal-title":"Hum Biol"},{"key":"19_CR66_19","volume-title":"\u03b2-Thalassemia in Turkey: distribution, diversity, evolution, and phenotypegenotype correlation","author":"GO Tadmouri","year":"1999","unstructured":"Tadmouri GO (1999) \u03b2-Thalassemia in Turkey: distribution, diversity, evolution, and phenotypegenotype correlation. Molecular Biology and Genetics Department, Bogazici University, Istanbul"},{"key":"19_CR67_19","volume-title":"\u03b2-Thalassemia in Turkey: molecular analysis of the \u03b2-globin gene and the effect of the \u03b2\u2212\u039413 mutation on gene expression","author":"O Bilenoglu","year":"2002","unstructured":"Bilenoglu O (2002) \u03b2-Thalassemia in Turkey: molecular analysis of the \u03b2-globin gene and the effect of the \u03b2\u2212\u039413 mutation on gene expression. Molecular Biology and Genetics Department, Bogazici University, Istanbul"},{"key":"19_CR68_19","volume-title":"NeHIR, DoTBAr, Deniz: three biological databases","author":"RI Gulen","year":"2003","unstructured":"Gulen RI (2003) NeHIR, DoTBAr, Deniz: three biological databases. Fatih University, Istanbul"},{"key":"19_CR69_19","volume-title":"Molecular analysis of hemoglobinopathies and construction of a database; identification of a novel IVS-II-2 (T\u2192A) mutation","author":"A Latif","year":"2006","unstructured":"Latif A (2006) Molecular analysis of \u00adhemoglobinopathies and construction of a database; identification of a novel IVS-II-2 (T\u2192A) mutation. Molecular Biology and Genetics Department, Bogazici University, Istanbul"},{"key":"19_CR70_19","doi-asserted-by":"publisher","first-page":"2341","DOI":"10.1016\/j.biocel.2008.04.024","volume":"40","author":"AR Migliaccio","year":"2008","unstructured":"Migliaccio AR, Rotili D, Nebbioso A, Atweh G, Mai A (2008) Histone deacetylase inhibitors and hemoglobin F induction in beta-thalassemia. Int J Biochem Cell Biol 40:2341\u20132347","journal-title":"Int J Biochem Cell Biol"},{"key":"19_CR71_19","doi-asserted-by":"publisher","first-page":"3391","DOI":"10.1182\/blood-2007-02-076091","volume":"110","author":"H Fathallah","year":"2007","unstructured":"Fathallah H, Weinberg RS, Galperin Y, Sutton M, Atweh GF (2007) Role of epigenetic modifications in normal globin gene regulation and butyrate-mediated induction of fetal hemoglobin. Blood 110:3391\u20133397","journal-title":"Blood"},{"key":"19_CR72_19","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/S0037-1963(01)90031-9","volume":"38","author":"GF Atweh","year":"2001","unstructured":"Atweh GF, Loukopoulos D (2001) Pharmacological induction of fetal hemoglobin in sickle cell disease and beta-thalassemia. Semin Hematol 38:367\u2013373","journal-title":"Semin Hematol"},{"key":"19_CR73_19","doi-asserted-by":"publisher","first-page":"4431","DOI":"10.1182\/blood-2007-11-078121","volume":"111","author":"AW Nienhuis","year":"2008","unstructured":"Nienhuis AW (2008) Development of gene therapy for blood disorders. Blood 111:4431\u20134444","journal-title":"Blood"},{"key":"19_CR74_19","doi-asserted-by":"publisher","first-page":"335","DOI":"10.1111\/j.1365-2141.2008.07098.x","volume":"141","author":"L Lisowski","year":"2008","unstructured":"Lisowski L, Sadelain M (2008) Current status of globin gene therapy for the treatment of beta-thalassaemia. Br J Haematol 141:335\u2013345","journal-title":"Br J Haematol"},{"key":"19_CR75_19","doi-asserted-by":"publisher","first-page":"129","DOI":"10.1097\/01.moh.0000152631.63469.07","volume":"12","author":"MJ Cunningham","year":"2005","unstructured":"Cunningham MJ, Nathan DG (2005) New developments in iron chelators. Curr Opin Hematol 12:129\u2013134","journal-title":"Curr Opin Hematol"},{"key":"19_CR76_19","doi-asserted-by":"publisher","first-page":"53","DOI":"10.1016\/j.blre.2007.10.001","volume":"22","author":"G Lucarelli","year":"2008","unstructured":"Lucarelli G, Gaziev J (2008) Advances in the allogeneic transplantation for thalassemia. Blood Rev 22:53\u201363","journal-title":"Blood Rev"},{"key":"19_CR77_19","doi-asserted-by":"publisher","first-page":"1920","DOI":"10.1126\/science.1152092","volume":"318","author":"J Hanna","year":"2007","unstructured":"Hanna J, Wernig M, Markoulaki S, Sun CW, Meissner A, Cassady JP, Beard C, Brambrink T, Wu LC, Townes TM, Jaenisch R (2007) Treatment of sickle cell anemia mouse model with iPS cells generated from autologous skin. Science 318:1920\u20131923","journal-title":"Science"},{"key":"19_CR78_19","doi-asserted-by":"publisher","first-page":"e46","DOI":"10.1371\/journal.pone.0000046","volume":"1","author":"A Goren","year":"2006","unstructured":"Goren A, Simchen G, Fibach E, Szabo PE, Tanimoto K, Chakalova L, Pfeifer GP, Fraser PJ, Engel JD, Cedar H (2006) Fine tuning of globin gene expression by DNA methylation. PLoS One 1:e46","journal-title":"PLoS One"},{"key":"19_CR79_19","doi-asserted-by":"publisher","first-page":"166","DOI":"10.1016\/j.bcmd.2007.08.001","volume":"40","author":"H Fathallah","year":"2008","unstructured":"Fathallah H, Portnoy G, Atweh GF (2008) Epigenetic analysis of the human alpha- and beta-globin gene clusters. Blood Cells Mol Dis 40:166\u2013173","journal-title":"Blood Cells Mol Dis"},{"key":"19_CR80_19","doi-asserted-by":"publisher","first-page":"1620","DOI":"10.1073\/pnas.0711566105","volume":"105","author":"M Uda","year":"2008","unstructured":"Uda M, Galanello R, Sanna S, Lettre G, Sankaran VG, Chen W, Usala G, Busonero F, Maschio A, Albai G, Piras MG, Sestu N, Lai S, Dei M, Mulas A, Crisponi L, Naitza S, Asunis I, Deiana M, Nagaraja R, Perseu L, Satta S, Cipollina MD, Sollaino C, Moi P, Hirschhorn JN, Orkin SH, Abecasis GR, Schlessinger D, Cao A (2008) Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci USA 105:1620\u20131625","journal-title":"Proc Natl Acad Sci USA"},{"key":"19_CR81_19","doi-asserted-by":"publisher","first-page":"11869","DOI":"10.1073\/pnas.0804799105","volume":"105","author":"G Lettre","year":"2008","unstructured":"Lettre G, Sankaran VG, Bezerra MA, Araujo AS, Uda M, Sanna S, Cao A, Schlessinger D, Costa FF, Hirschhorn JN, Orkin SH (2008) DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proc Natl Acad Sci USA 105:11869\u201311874","journal-title":"Proc Natl Acad Sci USA"},{"key":"19_CR82_19","doi-asserted-by":"publisher","first-page":"1015","DOI":"10.1016\/j.exphem.2007.03.014","volume":"35","author":"M Zhan","year":"2007","unstructured":"Zhan M, Miller CP, Papayannopoulou T, Stamatoyannopoulos G, Song CZ (2007) MicroRNA expression dynamics during murine and human erythroid differentiation. Exp Hematol 35:1015\u20131025","journal-title":"Exp Hematol"},{"key":"19_CR83_19","doi-asserted-by":"publisher","first-page":"3333","DOI":"10.1073\/pnas.0712312105","volume":"105","author":"LC Dore","year":"2008","unstructured":"Dore LC, Amigo JD, Dos Santos CO, Zhang Z, Gai X, Tobias JW, Yu D, Klein AM, Dorman C, Wu W, Hardison RC, Paw BH, Weiss MJ (2008) A GATA-1-regulated microRNA locus essential for erythropoiesis. Proc Natl Acad Sci USA 105:3333\u20133338","journal-title":"Proc Natl Acad Sci USA"},{"key":"19_CR84_19","doi-asserted-by":"publisher","first-page":"209","DOI":"10.1080\/03630260701290233","volume":"31","author":"A Kutlar","year":"2007","unstructured":"Kutlar A (2007) Sickle cell disease: a multigenic perspective of a single gene disorder. Hemoglobin 31:209\u2013224","journal-title":"Hemoglobin"}],"updated-by":[{"DOI":"10.1007\/978-1-61737-954-3_20","type":"erratum","label":"Erratum","source":"publisher","updated":{"date-parts":[[2010,11,7]],"date-time":"2010-11-07T00:00:00Z","timestamp":1289088000000}}],"container-title":["Methods in Molecular Biology","Disease Gene Identification"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/978-1-61737-954-3_19","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,19]],"date-time":"2023-02-19T08:32:46Z","timestamp":1676795566000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/978-1-61737-954-3_19"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,7]]},"ISBN":["9781617379536","9781617379543"],"references-count":84,"URL":"https:\/\/doi.org\/10.1007\/978-1-61737-954-3_19","relation":{"is-part-of":[{"id-type":"doi","id":"https:\/\/doi.org\/10.1007\/978-1-61737-954-3","asserted-by":"object"}]},"ISSN":["1064-3745","1940-6029"],"issn-type":[{"value":"1064-3745","type":"print"},{"value":"1940-6029","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,7]]},"assertion":[{"value":"7 November 2010","order":1,"name":"first_online","label":"First Online","group":{"name":"ChapterHistory","label":"Chapter History"}}]}}