{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T13:24:03Z","timestamp":1791033843591,"version":"4.1.0"},"reference-count":46,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,1,18]],"date-time":"2002-01-18T00:00:00Z","timestamp":1011312000000},"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":[[2002,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We have analysed, at the hematological and molecular level, 51 Hb lepore heterozygotes and three compound heterozygotes for Hb Lepore and HbS (HbLep\/HbS) in 26 unselected Portuguese families. The Lepore Boston variant was present in one family, in association with classical haplotype V. All of the other Lepore alleles present haplotype III in association with <jats:italic>Xmn<\/jats:italic>I (+)5\u2032 of <jats:sup>G<\/jats:sup>\u03b3 gene, in tight linkage disequilibrium to the major mutation found in the Portuguese population, the Lepore Baltimore variant ( \u03b4<jats:sup>68Leu<\/jats:sup>\u2010\u03b2<jats:sup>84Thr<\/jats:sup>). The three compound heterozygotes are the first HbLep\/HbS individuals reported in the literature, with the Lepore Baltimore mutation linked to haplotype III. In agreement with other studies, these Lepore Baltimore heterozygotes have higher HbF (1.4\u201314.1% of total hemoglobin) than published cases of Lepore Boston (0.8\u20135.4%), which is associated with <jats:italic>Xmn<\/jats:italic>I(\u2013). Among the Lepore Baltimore heterozygotes, the (AT)<jats:sub><jats:italic>x<\/jats:italic><\/jats:sub>T<jats:sub><jats:italic>y<\/jats:italic><\/jats:sub> repeat region at \u2013540 bp of the \u03b2 globin gene <jats:italic>in<\/jats:italic> <jats:italic>trans <\/jats:italic>to the Lepore chromosome, can account for much of the variability in HbF level. The allele (AT)<jats:sub>7<\/jats:sub>T<jats:sub>7<\/jats:sub> is associated with lower HbF, and (AT)<jats:sub>9<\/jats:sub>T<jats:sub>5<\/jats:sub> is associated with higher HbF. As we previously reported for \u03b2 thalassemic carriers, we observe in Lepore Baltimore carriers an effector&lt;?tklgp&gt; <jats:italic>in<\/jats:italic> <jats:italic>trans<\/jats:italic>, linked to the (AT)<jats:sub><jats:italic>x<\/jats:italic><\/jats:sub>T<jats:sub><jats:italic>y<\/jats:italic><\/jats:sub> sequence, acting as an HPFH (Hereditary Persistence of Fetal Hemoglobin) determinant. Am. J. Hematol. 69:95\u2013102, 2002. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.10019","type":"journal-article","created":{"date-parts":[[2002,8,25]],"date-time":"2002-08-25T23:45:33Z","timestamp":1030319133000},"page":"95-102","source":"Crossref","is-referenced-by-count":19,"title":["Fetal hemoglobin elevation in Hb lepore heterozygotes and its correlation with \u03b2 globin cluster linked determinants"],"prefix":"10.1002","volume":"69","author":[{"given":"Isabel","family":"Gon\u00e7alves","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Henriques","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Raimundo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Pican\u00e7o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Reis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Esmeraldina","family":"Correia 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