{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,4,26]],"date-time":"2024-04-26T02:07:38Z","timestamp":1714097258698},"reference-count":26,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2006,4,20]],"date-time":"2006-04-20T00:00:00Z","timestamp":1145491200000},"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":[[2006,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>There are approximately 1200 known natural mutations of the human globin genes. In most clinical laboratories, the diagnosis of hemoglobin disorders is based on blood counts, hemoglobin electrophoresis, or column chromatography, which can identify common variant hemoglobins such as Hb S, C, and E, but are unable to definitively diagnose most other hemoglobin variants and thalassemia mutations. We report two unrelated cases, both thought initially to have Hb S\/\u03b2\u2010thalassemia. Subsequent mutational analyses revealed that one is Hb S\/S with compound heterozygosity for nondeletional \u03b1\u2010thalassemia mutations. The other is the first reported case of compound heterozygosity for Hb S and an unstable hemoglobin, Hb Volga. Correct diagnoses of these hereditary disorders are needed for prognosis and proper management and also for genetic counseling. These studies underscore the importance to correlate clinical course with laboratory diagnosis and to make DNA\u2010based diagnostics more widely available for patients with unusual or complicated hemoglobin disorders. Am. J. Hematol. 81:361\u2013365, 2006. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.20562","type":"journal-article","created":{"date-parts":[[2006,4,20]],"date-time":"2006-04-20T20:52:58Z","timestamp":1145566378000},"page":"361-365","source":"Crossref","is-referenced-by-count":9,"title":["Hemoglobinopathies mimicking Hb S\/\u03b2\u2010thalassemia: Hb S\/S with \u03b1\u2010thalassemia and Hb S\/Volga"],"prefix":"10.1002","volume":"81","author":[{"given":"Hong\u2010Yuan","family":"Luo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Heeney","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Winfred C.","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shawn H.","family":"Eung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Russell E.","family":"Ware","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin H.","family":"Steinberg","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":[[2006,4,20]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"crossref","first-page":"985","DOI":"10.1182\/blood.V68.5.985.985","article-title":"\u03b1\u2010thalassemia in blacks: genetic and clinical aspects and interactions with the sickle hemoglobin gene","volume":"68","author":"Steinberg MH","year":"1986","journal-title":"Blood"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1089\/109065701753145538"},{"key":"e_1_2_1_4_2","first-page":"252","volume-title":"Disorders of hemoglobin genetics, pathophysiology, and clinical management","author":"Forget BG","year":"2001"},{"key":"e_1_2_1_5_2","first-page":"786","volume-title":"Disorders of hemoglobin: genetics, pathophysiology, and clinical management","author":"Steinberg MH","year":"2001"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.20128"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.3109\/03630269308998886"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1097\/00043426-200411000-00019"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V66.4.783.783"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.8.5041"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/306398a0"},{"key":"e_1_2_1_12_2","first-page":"405","volume-title":"Disorders of hemoglobin genetics, pathophysiology, and clinical management","author":"Higgs DR","year":"2001"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.3109\/03630268008996212"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.5858\/2002-126-1494-EOADHA"},{"key":"e_1_2_1_15_2","first-page":"431","volume-title":"Disorders of hemoglobin; 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