{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T15:05:45Z","timestamp":1767971145031,"version":"3.49.0"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2003,10,24]],"date-time":"2003-10-24T00:00:00Z","timestamp":1066953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2003,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a complicated genetic counseling and prenatal diagnostic case involving an East Indian couple that had lost two consecutive pregnancies. Hemoglobinopathy screening was conducted to investigate the possibility of Hb Bart's hydrops fetalis or Hb H hydrops fetalis. The initial work\u2010up indicated that \u03b1\u2010thalassemia was not a contributing factor, with both parents being carriers of single gene deletions (\u2212\u03b1<jats:sup>3.7<\/jats:sup>\/\u03b1\u03b1). However, the Hb electrophoresis results indicated that the couple might be at risk for having children with Hb E\/Hb Lepore disease. Subsequent DNA testing demonstrated that the father carried the Hb E mutation, but failed to confirm that the mother carries the Hb Lepore deletion. Sequence analysis revealed that the mother was heterozygous for a common East Indian \u03b2<jats:sup>0<\/jats:sup>\u2010thalassemia mutation, yet had a normal level of Hb A<jats:sub>2<\/jats:sub>. The mother also carried a previously unreported missense mutation of the \u03b4\u2010globin gene, in <jats:italic>cis<\/jats:italic> with the \u03b2<jats:sup>0<\/jats:sup>\u2010thalassemia mutation, which gave rise to the minor Hb variant originally misidentified as Hb Lepore. This case illustrates the importance of comprehensive molecular analyses for accurate assessment of genetic risks for hemoglobinopathy syndromes. Am. J. Hematol. 74:179\u2013181, 2003. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.10423","type":"journal-article","created":{"date-parts":[[2003,10,27]],"date-time":"2003-10-27T08:01:00Z","timestamp":1067241660000},"page":"179-181","source":"Crossref","is-referenced-by-count":7,"title":["\u03b2\u2010thalassemia in association with a new \u03b4\u2010chain hemoglobin variant [\u03b4116(g18)Arg\u2192Leu]: Implications for carrier screening and prenatal diagnosis"],"prefix":"10.1002","volume":"74","author":[{"given":"John S.","family":"Waye","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Margaret","family":"Patterson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lynda","family":"Walker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barry","family":"Eng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lisa M.","family":"Nakamura","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John D.","family":"Lafferty","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sui\u2010Li","family":"Yong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John K.","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H.K.","family":"Chui","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,10,24]]},"reference":[{"key":"e_1_2_1_2_2","volume-title":"Disorders of hemoglobin: genetics, pathophysiology, and clinical management","author":"Higgs DR","year":"2001"},{"key":"e_1_2_1_3_2","volume-title":"The thalassaemia syndromes","author":"Gibbons R","year":"2001"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.3109\/03630268709042850"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830470403"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1034\/j.1600-0609.2002.01637.x"},{"key":"e_1_2_1_7_2","volume-title":"Disorders of hemoglobin: genetics, pathophysiology, and clinical management","author":"Fucharoen S","year":"2001"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(98)70319-1"},{"key":"e_1_2_1_9_2","first-page":"217","article-title":"Concomitant inheritance of \u03b1\u2010thalassemia in \u03b20\u2010thalassemia\/Hb E disease","volume":"20","author":"Winichagoon P","year":"1985","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1993.tb04702.x"},{"key":"e_1_2_1_11_2","doi-asserted-by":"crossref","first-page":"1246","DOI":"10.1182\/blood.V76.6.1246.1246","article-title":"Observations on the levels of Hb A2 in patients with different \u03b2\u2010thalassemia mutations and a \u03b4 chain variant","volume":"76","author":"Codrington JF","year":"1990","journal-title":"Blood"},{"key":"e_1_2_1_12_2","unstructured":"Globin Gene Server:http:\/\/globin.cse.psu.edu."},{"key":"e_1_2_1_13_2","first-page":"842","article-title":"Incorrect genetic counseling of a couple with \u03b2\u2010thalassemia, due to incomplete testing","volume":"52","author":"Ribeiro MLS","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2795(75)90065-3"},{"key":"e_1_2_1_15_2","doi-asserted-by":"crossref","first-page":"3298","DOI":"10.1182\/blood.V78.12.3298.3298","article-title":"Identification of four novel \u03b4\u2010globin gene mutations in Greek Cypriots using polymerase reaction and automated fluorescence\u2010based DNA sequence analysis","volume":"78","author":"Trifillis P","year":"1991","journal-title":"Blood"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.10423","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.10423","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T00:13:46Z","timestamp":1700266426000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.10423"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,10,24]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2003,11]]}},"alternative-id":["10.1002\/ajh.10423"],"URL":"https:\/\/doi.org\/10.1002\/ajh.10423","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,10,24]]}}}