{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T10:56:46Z","timestamp":1792061806327,"version":"4.4.0"},"reference-count":23,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2007,7,30]],"date-time":"2007-07-30T00:00:00Z","timestamp":1185753600000},"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":[[2007,11]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The phenotype of increased Hb A2 typical of \u03b2\u2010thalassaemia (\u03b2\u2010thal) carriers can be reduced to normal or borderline values because of the co\u2010inheritance of a \u03b4\u2010globin gene (HBD, MIM #142000) mutation, which may lead to misinterpretation of diagnostic results. To know the spectrum of \u03b4\u2010globin mutations in the Portuguese population we performed a mutational analysis of the \u03b4\u2010globin gene in a group of 51 Portuguese \u03b2\u2010thal carriers presenting microcytosis, hypochromia and a normal\/borderline Hb A2 level and in another group of 15 individuals suspected to have \u03b4\u2010globin structural abnormalities. The heterozygosity for the \u03b2<jats:sup>+<\/jats:sup>IVS\u2010I\u20106T\u2192C (HBB:c. 92+6T&gt;C) mutation was the main cause for the mentioned atypical \u03b2\u2010thal carrier phenotype. Furthermore, eight individuals were double heterozygous for one common \u03b2\u2010thal mutation and the \u03b4<jats:sup>+<\/jats:sup>Cd27G\u2192T mutation (Hb A2\u2013Yialousa; HBD:c.82G&gt;T). One of them also presented a novel \u03b4\u2010globin gene promoter mutation,\u221280G\u2192A (HBD:c.\u2212130G&gt;A), responsible for about 25% decrease of the promoter activity in transient expression assays. One the other hand, in the other group of 15 individuals suspected to have \u03b4\u2010globin structural abnormalities observed by biochemical methods, some known Hb A2 variants were identified \u2013 Hb A2\u2032 (HBD:c.49G&gt;C), Hb A2\u2010Babinga (HBD:c.410G&gt;A), and Hb A2\u2010Wrens (HBD:c.295G&gt;A), and the novel Hb A2\u2010Fogo [\u03b464(E8)(Gly\u2192Ser); (HBD:c.193G&gt;A)]. This novel Hb A2 variant was observed segregating in linkage with Hb E (HBB:c.79G&gt;A) in a three generation family. In conclusion, six different \u03b4\u2010globin mutations were found, being two of them new molecular defects. All \u03b4\u2010alleles identified were found linked to the expected \u03b2\u2010globin cluster haplotype. All mutations caused a low Hb A2 level and through this could lead to misdiagnosis when inherited together with a \u03b2\u2010thal allele.<\/jats:p>","DOI":"10.1111\/j.1600-0609.2007.00949.x","type":"journal-article","created":{"date-parts":[[2007,10,4]],"date-time":"2007-10-04T13:24:39Z","timestamp":1191504279000},"page":"422-428","source":"Crossref","is-referenced-by-count":30,"title":["Mutational spectrum of delta\u2010globin gene in the Portuguese population"],"prefix":"10.1111","volume":"79","author":[{"given":"Ana","family":"Morgado","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabel","family":"Pican\u00e7o","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susana","family":"Gomes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armandina","family":"Miranda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarida","family":"Coucelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filomena","family":"Seuanes","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria 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