{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,11,19]],"date-time":"2023-11-19T10:16:40Z","timestamp":1700389000239},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2002,6,27]],"date-time":"2002-06-27T00:00:00Z","timestamp":1025136000000},"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":[[2002,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Homozygosity or compound heterozygosity for \u03b2<jats:sup>0<\/jats:sup>\u2010thalassemia mutations most commonly results in a transfusion\u2010dependent thalassemia major phenotype. In this report, we describe a 55\u2010year\u2010old male, from Guinea\u2010Bissau, that had been asymptomatic and never transfused until being admitted to hospital with anemia, fever, splenomegaly, and asthenia. Following hospital admission, HIV\u20102 and <jats:italic>Mycobacterium tuberculosis<\/jats:italic> infections were diagnosed, and biochemical and molecular studies revealed homozygosity for \u03b2<jats:sup>0<\/jats:sup>\u2010thalassemia. At the molecular level, this is the first description of homozygosity for the \u03b2<jats:sup>0<\/jats:sup>\u2010Black 1,393\u2010bp deletion. In this case, the complete absence of \u03b2\u2010globin gene expression seems to be compensated by an unusually high fetal globin gene expression (Hb F 96%). \u03b2\u2010Globin haplotyping results were compatible with the propositus being homozygous for the Black 2 haplotype and for the absence of the <jats:italic>Xmn<\/jats:italic>I polymorphism at \u2212158 of <jats:sup>G<\/jats:sup>\u03b3\u2010globin gene (\u2212\/\u2212). Co\u2010inheritance of genetic factors usually associated with high Hb F levels was not detected. Otherwise, the propositus is a heterozygote for the \u03b1\u2010globin gene 3.7\u2010kb deletion that is a beneficial modulating factor but not sufficient to explain this extremely mild phenotype. This unusual genotype\/phenotype association is discussed in terms of the mechanisms underlying hemoglobin switching during development. Am. J. Hematol. 70:232\u2013236, 2002. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.10118","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:34:39Z","timestamp":1033904079000},"page":"232-236","source":"Crossref","is-referenced-by-count":3,"title":["Asymptomatic homozygous deletional \u03b2<sup>0<\/sup>\u2010thalassemia in an African individual"],"prefix":"10.1002","volume":"70","author":[{"given":"Paula","family":"Faustino","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana 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