{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T12:53:20Z","timestamp":1761310400017},"reference-count":11,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"content-version":"vor","delay-in-days":4574,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[1994,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The term \u03b4\u03b2\u2010thalassemia with normal HbF has been recently proposed to define heterogenous \u03b4 and \u03b2 globin gene molecular defects involving the same chromosome in cis. Here, we describe a Sardinian family in which three members showing microcytosis, border\u2010line HbA<jats:sub>2<\/jats:sub> levels and normal HbF proved to be heterozygotes for \u03b4 <jats:sup>+<\/jats:sup>27 and \u03b2\u00b039 point mutations in cis by allele specific oligonucleotyde hybridization as well as by ECO 0 109 I endonuclease digestion and electrophoresis. As some of these \u03b2\u2010thalassemia carriers shows normal HbA<jats:sub>2<\/jats:sub> levels, knowledge of the molecular basis of this novel \u03b4\u03b2\u2010thalassemia silent phenotype would be useful in thalassemia screening and genetic counselling. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.2830450113","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T13:51:22Z","timestamp":1172065882000},"page":"81-84","source":"Crossref","is-referenced-by-count":11,"title":["A novel mediterranean \u201c\u03b4\u03b2\u2010thalassemia\u201d determinant containing the \u03b4<sup>+<\/sup>27 and \u03b2\u00b039 point mutations in cis"],"prefix":"10.1002","volume":"45","author":[{"given":"Lina","family":"Oggiano","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luciana","family":"Guiso","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Laura","family":"Frogheri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Georgios","family":"Loudianos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paola","family":"Pistidda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Rimini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Pirastu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio","family":"Cao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Longinotti","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,7,11]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"457","article-title":"The Corf\u00f9 \u03b4\u03b2\u00b0\u2010thalassemia: A small deletion acts at a distance to selectively abolish \u03b2\u2010globin gene expression","volume":"71","author":"Kulozik AE","year":"1988","journal-title":"Blood"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1991.tb04460.x"},{"key":"e_1_2_1_4_2","doi-asserted-by":"crossref","first-page":"2087","DOI":"10.1182\/blood.V77.9.2087.2087","article-title":"Molecular basis of the \u03b4\u03b2 thalassemia in cis to hemoglobin Knossos variant","volume":"77","author":"Loudianos G","year":"1991","journal-title":"Blood"},{"key":"e_1_2_1_5_2","doi-asserted-by":"crossref","first-page":"526","DOI":"10.1182\/blood.V75.2.526.526","article-title":"Molecular basis of \u03b4\u03b2\u2010thalassemia with normal fetal hemoglobin level","volume":"75","author":"Loudianos G","year":"1990","journal-title":"Blood"},{"key":"e_1_2_1_6_2","first-page":"1","article-title":"\u03b4\u2010Thalassemia due to a mutation in an erythroid\u2010specific binding protein sequence 3\u2032 to the \u03b4\u2010globin gene","volume":"79","author":"Moi P","year":"1992","journal-title":"Blood"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2257.1992.tb00104.x"},{"key":"e_1_2_1_8_2","doi-asserted-by":"crossref","first-page":"530","DOI":"10.1182\/blood.V72.2.530.530","article-title":"Delineation of the molecular basis of \u03b4\u2010 and normal HbA2 \u03b2\u2010thalassemia","volume":"72","author":"Moi P","year":"1988","journal-title":"Blood"},{"key":"e_1_2_1_9_2","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1182\/blood.V62.2.341.341","article-title":"\u03b4+\u2010thalassemia in Sardinia","volume":"62","author":"Pirastu M","year":"1983","journal-title":"Blood"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.84.9.2882"},{"key":"e_1_2_1_11_2","volume-title":"The Thalassemia Syndromes","author":"Weatherall DJ","year":"1981"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/296627a0"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.2830450113","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.2830450113","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,25]],"date-time":"2023-10-25T00:34:42Z","timestamp":1698194082000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.2830450113"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,1]]},"references-count":11,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1994,1]]}},"alternative-id":["10.1002\/ajh.2830450113"],"URL":"https:\/\/doi.org\/10.1002\/ajh.2830450113","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,1]]}}}