{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T18:12:28Z","timestamp":1763057548278,"version":"3.40.4"},"reference-count":11,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2010,1,1]],"date-time":"2010-01-01T00:00:00Z","timestamp":1262304000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acta Haematol"],"published-print":{"date-parts":[[2010]]},"abstract":"<jats:p>We report the case of a 14-year-old African-American boy who was diagnosed with sickle cell disease. Laboratory tests showed that the patient was a compound heterozygote for a novel Hb variant with a double mutation detected on \u03b2&lt;sup&gt;S&lt;\/sup&gt; allele, Hb S \u03b2Glu6Val, and \u03b2Asn139Ser substitution, i.e. a \u03b2-chain variant named \u2018Hb S-Wake\u2019. The patient also carried a single Hb S mutation in &lt;i&gt;trans&lt;\/i&gt; allele, leading to Hb SS-Wake disease. He had coinherited homozygous \u03b1&lt;sup&gt;+&lt;\/sup&gt;-thalassemia (\u2013\u03b1&lt;sup&gt;3.7&lt;\/sup&gt;\/\u2013\u03b1&lt;sup&gt;3.7&lt;\/sup&gt;) simultaneously which resulted in multiple globin gene abnormalities.<\/jats:p>","DOI":"10.1159\/000318737","type":"journal-article","created":{"date-parts":[[2010,9,23]],"date-time":"2010-09-23T06:29:09Z","timestamp":1285223349000},"page":"120-124","source":"Crossref","is-referenced-by-count":6,"title":["A New Sickling Variant \u2018Hb S-Wake \u03b2[(Glu6Val-Asn139 Ser)]\u2019 Found in a Compound Heterozygote with Hb S \u03b2(Glu6Val) Coinherited with Homozygous \u03b1-Thalassemia-2: Phenotype and Molecular Characteristics"],"prefix":"10.1159","volume":"124","author":[{"given":"F.","family":"Kutlar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Redding-Lallinger","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.E.","family":"Meiler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.M.","family":"Bakanay","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"L.","family":"Borders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Kutlar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2010,9,23]]},"reference":[{"doi-asserted-by":"publisher","key":"ref1","DOI":"10.1080%2F03630260903061184"},{"doi-asserted-by":"publisher","key":"ref2","DOI":"10.1080%2F03630260701297071"},{"doi-asserted-by":"publisher","key":"ref3","DOI":"10.1081%2FHEM-120005450"},{"doi-asserted-by":"publisher","key":"ref4","DOI":"10.1002%2Fajh.2830460309"},{"doi-asserted-by":"publisher","key":"ref5","DOI":"10.1006%2Fjmbi.1994.1394"},{"doi-asserted-by":"publisher","key":"ref6","DOI":"10.3109%2F03630269509005825"},{"doi-asserted-by":"publisher","key":"ref7","DOI":"10.3109%2F03630268908998084"},{"doi-asserted-by":"publisher","key":"ref8","DOI":"10.3109%2F03630269109072487"},{"doi-asserted-by":"publisher","key":"ref9","DOI":"10.1073%2Fpnas.83.24.9363"},{"doi-asserted-by":"publisher","key":"ref10","DOI":"10.1056%2FNEJMoa040771"},{"doi-asserted-by":"publisher","key":"ref11","DOI":"10.1111%2Fj.1365-2141.1989.tb04304.x"}],"container-title":["Acta Haematologica"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/318737","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/318737","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T19:36:53Z","timestamp":1745437013000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000318737"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010]]},"references-count":11,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2010,10,1]]},"published-print":{"date-parts":[[2010,10,7]]}},"URL":"https:\/\/doi.org\/10.1159\/000318737","archive":["Portico"],"relation":{},"ISSN":["0001-5792","1421-9662"],"issn-type":[{"type":"print","value":"0001-5792"},{"type":"electronic","value":"1421-9662"}],"subject":[],"published":{"date-parts":[[2010]]}}}