{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T13:36:55Z","timestamp":1775050615245,"version":"3.50.1"},"reference-count":50,"publisher":"Elsevier BV","issue":"4-5","license":[{"start":{"date-parts":[[2013,3,1]],"date-time":"2013-03-01T00:00:00Z","timestamp":1362096000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2013,3,1]],"date-time":"2013-03-01T00:00:00Z","timestamp":1362096000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Biochemistry"],"published-print":{"date-parts":[[2013,3]]},"DOI":"10.1016\/j.clinbiochem.2012.08.018","type":"journal-article","created":{"date-parts":[[2012,9,17]],"date-time":"2012-09-17T12:19:02Z","timestamp":1347884342000},"page":"291-299","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":11,"title":["Pitfalls in the genetic diagnosis of Hb S"],"prefix":"10.1016","volume":"46","author":[{"given":"Kamran","family":"Moradkhani","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jean","family":"Riou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Henri","family":"Wajcman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0005","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1126\/science.110.2865.543","article-title":"Sickle cell anemia, a molecular disease","volume":"110","author":"Pauling","year":"1949","journal-title":"Science"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0010","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/0009-8981(57)90005-0","article-title":"A cellulose acetate supporting medium for zone electrophoresis","volume":"2","author":"Kohn","year":"1957","journal-title":"Clin Chim Acta"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0015","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1016\/j.chroma.2005.01.018","article-title":"Electrophoresis: the march of pennies, the march of dimes","volume":"1079","author":"Righetti","year":"2005","journal-title":"J Chromatogr A"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0020","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1182\/blood.V4.1.66.66","article-title":"A rapid diagnostic test for sickle cell anemia","volume":"4","author":"Itano","year":"1949","journal-title":"Blood"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0025","doi-asserted-by":"crossref","first-page":"148","DOI":"10.1016\/0003-9861(53)90444-5","article-title":"Solubilities of naturally occurring mixtures of human hemoglobin","volume":"47","author":"Itano","year":"1953","journal-title":"Arch Biochem Biophys"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0030","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1016\/0005-2795(71)90315-1","article-title":"The separation of human and animal hemoglobins by isoelectric focusing in polyacrylamide gel","volume":"229","author":"Drysdale","year":"1971","journal-title":"Biochim Biophys Acta"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0035","doi-asserted-by":"crossref","first-page":"527","DOI":"10.3109\/03630268008996234","article-title":"Chromatographic methods for the separation of normal and abnormal hemoglobins","volume":"4","author":"Huisman","year":"1980","journal-title":"Hemoglobin"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0040","doi-asserted-by":"crossref","first-page":"820","DOI":"10.1093\/clinchem\/39.5.820","article-title":"Rapid analysis of hemoglobin variants by cation-exchange HPLC","volume":"39","author":"Ou","year":"1993","journal-title":"Clin Chem"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0045","doi-asserted-by":"crossref","first-page":"484","DOI":"10.1111\/j.1751-553X.2009.01158.x","article-title":"Evaluating five dedicated automatic devices for haemoglobinopathy diagnostics in multi-ethnic populations","volume":"31","author":"Van Delft","year":"2009","journal-title":"Int J Lab Hematol"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0050","doi-asserted-by":"crossref","first-page":"237","DOI":"10.1515\/CCLM.2005.040","article-title":"Evaluation of the Bio-Rad VARIANT II HbA2\/HbA1C dual program for measurement of hemoglobin concentrations and detection of variants","volume":"43","author":"Riou","year":"2005","journal-title":"Clin Chem Lab Med"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0055","doi-asserted-by":"crossref","first-page":"1736","DOI":"10.1373\/clinchem.2004.034991","article-title":"HPLC retention time as a diagnostic tool for hemoglobin variants and hemoglobinopathies: a study of 60000 samples in a clinical diagnostic laboratory","volume":"50","author":"Joutovsky","year":"2004","journal-title":"Clin Chem"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0060","doi-asserted-by":"crossref","first-page":"824","DOI":"10.1309\/AJCPQY80HZWHHGZF","article-title":"Comparison of Sebia Capillarys capillary electrophoresis with the Primus high-pressure liquid chromatography in the evaluation of hemoglobinopathies","volume":"130","author":"Keren","year":"2008","journal-title":"Am J Clin Pathol"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0065","first-page":"1232","article-title":"Carolyn Hoke C","volume":"413","author":"Greene","year":"2012","journal-title":"Lorey T, Comparison of Sebia Capillarys Flex capillary electrophoresis with the BioRad Variant II high pressure liquid chromatography in the evaluation of hemoglobinopathies, Clin Chim Acta"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0070","doi-asserted-by":"crossref","first-page":"1802","DOI":"10.1016\/j.clinbiochem.2009.05.014","article-title":"Globin chain analysis: an important tool in phenotype study of hemoglobin disorders","volume":"42","author":"Wajcman","year":"2009","journal-title":"Clin Biochem"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0075","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1006\/bcmd.2001.0430","article-title":"Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry","volume":"27","author":"Wild","year":"2001","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0080","first-page":"273","article-title":"Analysis of sickle cell gene using polymerase chain reaction & restriction enzyme Bsu361","volume":"101","author":"Husain","year":"1995","journal-title":"Indian J Med Res"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0085","first-page":"668","article-title":"Determination of density distribution of red cell population","volume":"64","author":"Danon","year":"1964","journal-title":"J Lab Clin Med"},{"issue":"Database issue","key":"10.1016\/j.clinbiochem.2012.08.018_bb0090","doi-asserted-by":"crossref","first-page":"D537","DOI":"10.1093\/nar\/gkh006","article-title":"Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies","volume":"32","author":"Patrinos","year":"2004","journal-title":"Nucleic Acids Res"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0095","doi-asserted-by":"crossref","DOI":"10.1111\/j.1751-553X.2012.01440.x","article-title":"A comprehensive analysis of hemoglobin variants by high-performance liquid chromatography (HPLC)","author":"Szuberski","year":"2012","journal-title":"Int J Lab Hematol"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0100","doi-asserted-by":"crossref","DOI":"10.1111\/j.1751-553X.2012.01424.x","article-title":"Hb Haaglanden: a new nonsickling \u03b27 Glu>Val variant. Consequences for basic diagnostics, screening, and risk assessment when dealing with HbS-like variants","author":"Harteveld","year":"2012","journal-title":"Int J Lab Hematol"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0105","doi-asserted-by":"crossref","first-page":"161","DOI":"10.3109\/03630261003679631","article-title":"Hb Tak and Hb Q-Thailand in Thai patients are S-window hemoglobin variants revealed by high performance liquid chromatography","volume":"34","author":"Jindadamrongwech","year":"2010","journal-title":"Hemoglobin"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0110","doi-asserted-by":"crossref","first-page":"908","DOI":"10.1139\/o70-141","article-title":"Hemoglobin Broussais: alpha-90 lys changed to asn","volume":"48","author":"Vella","year":"1970","journal-title":"Can J Biochem"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0115","doi-asserted-by":"crossref","first-page":"9363","DOI":"10.1073\/pnas.83.24.9363","article-title":"Hemoglobin S Antilles: a variant with lower solubility than hemoglobin S and producing sickle cell disease in heterozygotes","volume":"83","author":"Monplaisir","year":"1986","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0120","doi-asserted-by":"crossref","first-page":"4375","DOI":"10.1182\/blood.V92.11.4375","article-title":"HbS-Oman heterozygote: a new dominant sickle syndrome","volume":"92","author":"Nagel","year":"1998","journal-title":"Blood"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0125","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1097\/00043426-200411000-00019","article-title":"A novel sickle hemoglobin: hemoglobin S-South End","volume":"26","author":"Luo","year":"2004","journal-title":"J Pediatr Hematol Oncol"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0130","doi-asserted-by":"crossref","first-page":"149","DOI":"10.1016\/0014-5793(75)80246-8","article-title":"Hemoglobin C Ziguinchor alphaA2 beta62 (A3) Glu leads to Val beta58 (E2) Pro leads to Arg: the second sickling variant with amino acid substitutions in 2 residues of the beta polypeptide chain","volume":"58","author":"Goossens","year":"1975","journal-title":"FEBS Lett"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0135","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1080\/03630260903061184","article-title":"Strategy for identification by mass spectrometry of a new human hemoglobin variant with two mutations in Cis in the beta-globin chain: Hb S-Clichy [beta6(A3)Glu\u2013>Val; beta8(A5)Lys\u2013>Thr]","volume":"33","author":"Zanella-Cleon","year":"2009","journal-title":"Hemoglobin"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0140","doi-asserted-by":"crossref","first-page":"500","DOI":"10.3109\/03630269.2010.513646","article-title":"Hb S-San Martin: a new sickling hemoglobin with two amino acid substitutions [\u03b26(A3)Glu\u2192Val;\u03b2105(G7)Leu\u2192Pro] in an Argentinean family","volume":"34","author":"Feliu-Torres","year":"2010","journal-title":"Hemoglobin"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0145","doi-asserted-by":"crossref","first-page":"1817","DOI":"10.1182\/blood.V74.5.1817.1817","article-title":"Beta+-thalassemia in cis of a sickle cell gene: occurrence of a promoter mutation on a beta s chromosome","volume":"74","author":"Baklouti","year":"1989","journal-title":"Blood"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0150","doi-asserted-by":"crossref","first-page":"251","DOI":"10.1111\/j.1365-2141.1988.tb02472.x","article-title":"Hb A-like sickle haemoglobin: Hb S-Providence","volume":"70","author":"Gale","year":"1988","journal-title":"Br J Haematol"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0155","doi-asserted-by":"crossref","first-page":"248","DOI":"10.1016\/S0021-9258(19)81457-6","article-title":"Structure and properties of hemoglobin C-Harlem, a human hemoglobin variant with amino acid substitutions in 2 residues of the beta-polypeptide chain","volume":"242","author":"Bookchin","year":"1967","journal-title":"J Biol Chem"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0160","series-title":"Congr\u00e8s Soci\u00e9te Fran\u00e7aise d'H\u00e9matologie, Paris","first-page":"33","article-title":"Un nouveau syndrome drepanocytaire majeur: HbS(beta6val)\/HbC Ndjamena (beta6val-beta37gly)","volume":"special issue","author":"Ducrocq","year":"2006"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0165","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1081\/HEM-120035918","article-title":"A new variant with two amino acid substitutions: Hb S-Cameroon [beta6(A3)Glu\u2013>Val;beta90(F6)Glu\u2013>Lys]","volume":"28","author":"Bundgaard","year":"2004","journal-title":"Hemoglobin"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0170","doi-asserted-by":"crossref","first-page":"120","DOI":"10.1159\/000318737","article-title":"A new sickling variant 'Hb S-Wake (\u03b2 Glu6Val-Asn139 Ser) found in a compound heterozygote with Hb S \u03b2(Glu6Val) coinherited with homozygous \u03b1-thalassemia-2: phenotype and molecular characteristics","volume":"124","author":"Kutlar","year":"2010","journal-title":"Acta Haematol"},{"issue":"1","key":"10.1016\/j.clinbiochem.2012.08.018_bb0175","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/j.abb.2012.01.001","article-title":"Hb S-S\u00e3o Paulo: a new sickling hemoglobin with stable polymers and decreased oxygen affinity","volume":"519","author":"Jorge","year":"2012","journal-title":"Arch Biochem Biophys"},{"issue":"15","key":"10.1016\/j.clinbiochem.2012.08.018_bb0180","doi-asserted-by":"crossref","first-page":"1532","DOI":"10.1056\/NEJMoa040771","article-title":"Hemoglobin Jamaica plain\u2014a sickling hemoglobin with reduced oxygen affinity","volume":"351","author":"Geva","year":"2004","journal-title":"N Engl J Med"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0185","doi-asserted-by":"crossref","first-page":"561","DOI":"10.1111\/j.1432-1033.1977.tb11699.x","article-title":"Hemoglobin S Travis: a sickling hemoglobin with two amino acid substitutions [beta6(A3)glutamic acid leads to valine and beta142 (H20) alanine leads to valine)","volume":"77","author":"Moo-Penn","year":"1977","journal-title":"Eur J Biochem"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0190","doi-asserted-by":"crossref","first-page":"419","DOI":"10.3109\/03630267709027860","article-title":"Hemoglobin Arlington Park. A new hemoglobin variant with two amino acid substitutions in the beta chain","volume":"1","author":"Adams","year":"1977","journal-title":"Hemoglobin"},{"issue":"3","key":"10.1016\/j.clinbiochem.2012.08.018_bb0195","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1006\/bcmd.2001.0430","article-title":"Rapid identification of hemoglobin variants by electrospray ionization mass spectrometry","volume":"27","author":"Wild","year":"2001","journal-title":"Blood Cells Mol Dis"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0200","series-title":"Proceedings of the 5th International Conference on the Thalassaemias and the Haemoglobinopathies, Nicosia, Cyprus","first-page":"215","author":"Kaeda","year":"1993"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0205","doi-asserted-by":"crossref","first-page":"317","DOI":"10.1081\/HEM-100105225","article-title":"Hb D-Agri [beta9(A6)Ser \u2013> Tyr;beta121(GH4)Glu \u2013> Gln]: a new Indian hemoglobin variant with two amino acid substitutions in the same beta chain","volume":"25","author":"Colah","year":"2001","journal-title":"Hemoglobin"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0210","doi-asserted-by":"crossref","first-page":"205","DOI":"10.3109\/03630269708997381","article-title":"Hb T-Cambodia, a beta chain variant with the mutations of Hb E and Hb D-Punjab, confirmed by DNA analysis","volume":"21","author":"Hutt","year":"1997","journal-title":"Hemoglobin"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0215","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1081\/HEM-120002936","article-title":"Hb O-Tibesti [beta121(GH4)Glu\u2013>Lys; beta11(A8)Val\u2013>Ile], a hemoglobin variant carrying in the same beta chain the substitutions of Hb O-Arab and Hb Hamilton, found in combination with Hb S [beta6(A3)Glu\u2013>Val]","volume":"26","author":"Pr\u00e9hu","year":"2002","journal-title":"Hemoglobin"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0220","doi-asserted-by":"crossref","first-page":"774","DOI":"10.1093\/clinchem\/42.5.774","article-title":"Liquid chromatography in diagnosis of rare hemoglobin variant (Hb Chicago) and its combination with HB S: Hb Chicago\/S trait and Hb Chicago\/sickle cell disease","volume":"42","author":"Ou","year":"1996","journal-title":"Clin Chem"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0225","doi-asserted-by":"crossref","first-page":"1150","DOI":"10.1056\/NEJM199110173251607","article-title":"Sickle cell disease in a patient with sickle cell trait and compound heterozygosity for hemoglobin S and hemoglobin Quebec-Chori","volume":"325","author":"Witkowska","year":"1991","journal-title":"N Engl J Med"},{"issue":"6","key":"10.1016\/j.clinbiochem.2012.08.018_bb0230","doi-asserted-by":"crossref","first-page":"593","DOI":"10.3109\/03630268609036564","article-title":"Hemoglobin La Desirade alpha A2 beta 2 129 (H7) Ala\u2010Val: a new unstable hemoglobin","volume":"10","author":"Merault","year":"1986","journal-title":"Hemoglobin"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0235","series-title":"Poster TIF meeting","article-title":"Compound heterozygosity between HbS and \u03b2-thalassemia. Implication for the neonatal diagnostic of hemoglobinopathies","author":"Pissard","year":"2008"},{"issue":"1","key":"10.1016\/j.clinbiochem.2012.08.018_bb0240","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1111\/j.1751-553X.2011.01368.x","article-title":"ICSH recommendations for the measurement of haemoglobin A2","volume":"34","author":"Stephens","year":"2012","journal-title":"Int J Lab Hematol"},{"issue":"4","key":"10.1016\/j.clinbiochem.2012.08.018_bb0245","doi-asserted-by":"crossref","first-page":"950","DOI":"10.1046\/j.1365-2141.1998.01094.x","article-title":"A new sickle cell disease phenotype associating Hb S trait, severe pyruvate kinase deficiency (PK Conakry), and an alpha2 globin gene variant (Hb Conakry)","volume":"103","author":"Cohen-Solal","year":"1998","journal-title":"Br J Haematol"},{"key":"10.1016\/j.clinbiochem.2012.08.018_bb0250","doi-asserted-by":"crossref","first-page":"1845","DOI":"10.1073\/pnas.87.5.1845","article-title":"Enhanced polymerization of recombinant human deoxyhemoglobin beta 6 Glu>Ile","volume":"87","author":"Baudin-Chich","year":"1990","journal-title":"Proc Natl Acad Sci U S A"}],"container-title":["Clinical Biochemistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009912012004985?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0009912012004985?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,14]],"date-time":"2025-09-14T15:39:01Z","timestamp":1757864341000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0009912012004985"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,3]]},"references-count":50,"journal-issue":{"issue":"4-5","published-print":{"date-parts":[[2013,3]]}},"alternative-id":["S0009912012004985"],"URL":"https:\/\/doi.org\/10.1016\/j.clinbiochem.2012.08.018","relation":{},"ISSN":["0009-9120"],"issn-type":[{"value":"0009-9120","type":"print"}],"subject":[],"published":{"date-parts":[[2013,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Pitfalls in the genetic diagnosis of Hb S","name":"articletitle","label":"Article Title"},{"value":"Clinical Biochemistry","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clinbiochem.2012.08.018","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2012 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.","name":"copyright","label":"Copyright"}]}}