{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,10]],"date-time":"2026-02-10T05:41:43Z","timestamp":1770702103637,"version":"3.49.0"},"reference-count":24,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,3,15]],"date-time":"2014-03-15T00:00:00Z","timestamp":1394841600000},"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":[[2014,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Purpose<\/jats:title><jats:p>Over the past two decades, a wide range of available methods for <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> analysis have allowed us to identify defects in globin genes associated with haemoglobin disorders and to correlate specific mutations with phenotypic expression. The purpose of this study was to evaluate the nature of three new nucleotide changes, mutation or single nucleotide polymorphism, found in the beta\u2010globin gene, to conduct an appropriate genetic counselling.<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients and methods<\/jats:title><jats:p>We report the molecular study performed in three probands and their families, sampling during the screening programme conducted at the Laboratory for Molecular Prenatal Diagnosis of Hemoglobinopathies at Villa Sofia\u2010Cervello Hospital in Palermo, Italy.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>This work allowed us to report three new nucleotide substitutions of the <jats:italic>\u03b2\u2010<\/jats:italic>globin gene: a substitution of the nucleotide 16 in the <jats:styled-content style=\"fixed-case\">CAP<\/jats:styled-content> site area (<jats:styled-content style=\"fixed-case\">HBB<\/jats:styled-content>: c.\u201035 A&gt;G), a substitution of the nucleotide 478 in the second intron (<jats:styled-content style=\"fixed-case\">HBB<\/jats:styled-content>: c.316\u2010373) in association with <jats:italic>\u03b2<\/jats:italic>\u2010haemoglobin variant Hb G Copenhagen (<jats:styled-content style=\"fixed-case\">HBB<\/jats:styled-content>:c.142G&gt;A) and a substitution of the nucleotide 1656 within the 3\u2032 <jats:styled-content style=\"fixed-case\">UTR<\/jats:styled-content> (<jats:styled-content style=\"fixed-case\">HBB<\/jats:styled-content>: c.*+182\u00a0G&gt;A) in association with the 1393\u2010bp deletion (<jats:styled-content style=\"fixed-case\">NG<\/jats:styled-content>_000007.3:g.70060_71452del1393).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The present work emphasizes the importance of reporting the observed nucleotide changes to the Haemoglobin Variant Database, especially in the case of new or rare undefined mutations, to facilitate the determination of their phenotypic expression and the possible interactions with known molecular defects and to formulate an appropriate genetic counselling for couples at risk.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ejh.12267","type":"journal-article","created":{"date-parts":[[2014,1,9]],"date-time":"2014-01-09T08:42:57Z","timestamp":1389256977000},"page":"444-449","source":"Crossref","is-referenced-by-count":7,"title":["Identification of three new nucleotide substitutions in the <i><b>\u03b2<\/b><\/i>\u2010globin gene: laboratoristic approach and impact on genetic counselling for beta\u2010thalassaemia"],"prefix":"10.1111","volume":"92","author":[{"given":"Margherita","family":"Vinciguerra","sequence":"first","affiliation":[{"name":"Department of Haematology for Rare Diseases of Blood and Blood\u2010forming Organs Regional Reference Laboratory for Screening and Prenatal Diagnosis of Haemoglobinopathies Villa Sofia\u2010Cervello Hospital Palermo 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Screening and Prenatal Diagnosis of Haemoglobinopathies Villa Sofia\u2010Cervello Hospital Palermo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monica","family":"Cannata","sequence":"additional","affiliation":[{"name":"Department of Haematology for Rare Diseases of Blood and Blood\u2010forming Organs Regional Reference Laboratory for Screening and Prenatal Diagnosis of Haemoglobinopathies Villa Sofia\u2010Cervello Hospital Palermo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Aurelio","family":"Maggio","sequence":"additional","affiliation":[{"name":"Department of Haematology for Rare Diseases of Blood and Blood\u2010forming Organs Regional Reference Laboratory for Screening and Prenatal Diagnosis of Haemoglobinopathies Villa Sofia\u2010Cervello Hospital Palermo Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonino","family":"Giambona","sequence":"additional","affiliation":[{"name":"Department of Haematology 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