{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,21]],"date-time":"2025-10-21T14:55:53Z","timestamp":1761058553221},"reference-count":14,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,10,13]],"date-time":"2006-10-13T00:00:00Z","timestamp":1160697600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["European J of Haematology"],"published-print":{"date-parts":[[2007,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A young woman originally from Cape Verde islands presented with mild sickle cell disease. Her blood counts and hemoglobin analysis results initially suggested that she might be either homozygous for the sickle cell hemoglobin (Hb S) with concomitant \u03b1\u2010thalassemia, or compound heterozygous for Hb S and \u03b2<jats:sup>0<\/jats:sup>\u2010thalassemia, deletional <jats:italic>\u03b4<\/jats:italic>\u03b2\u2010thalassemia or hereditary persistence of fetal hemoglobin (HPFH). We utilized a novel polymerase chain reaction (PCR)\u2010based screening technique and found a hitherto unrecognized 7.7\u2010kb deletion, starting from the <jats:italic>HBB<\/jats:italic> IVSII to 3\u2032 downstream of the \u03b2\u2010globin gene. This diagnostic approach can be applied to decipher other similar deletional mutations. This is the second known deletion that removes the 3\u2032\u2010end but preserves the integrity of the 5\u2032\u2010end of the \u03b2\u2010globin gene. Furthermore, the identification of the deletion allows proper genetic counseling for affected families.<\/jats:p>","DOI":"10.1111\/j.1600-0609.2006.00771.x","type":"journal-article","created":{"date-parts":[[2006,10,13]],"date-time":"2006-10-13T20:59:17Z","timestamp":1160773157000},"page":"82-85","source":"Crossref","is-referenced-by-count":10,"title":["Sickle cell disease due to compound heterozygosity for Hb S and a novel 7.7\u2010kb \u03b2\u2010globin gene deletion"],"prefix":"10.1111","volume":"78","author":[{"given":"B. Anders R.","family":"Andersson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mikaela E. L.","family":"Wering","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong\u2010Yuan","family":"Luo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raveen K.","family":"Basran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin H.","family":"Steinberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hedy P.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David H. 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