{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,23]],"date-time":"2025-12-23T18:44:28Z","timestamp":1766515468817},"reference-count":23,"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":5305,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[1992,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this study we have correlated the severity of the hematological features to the type of the \u03b2\u2010thalassemia mutation [codon 39 (C\u2192T), IVS\u2010I nt 110 (G\u2192A), IVS\u2010I nt 1 (G\u2192A), IVS\u2010I nt 6 (T\u2192C), IVS\u2010II nt 745 (C\u2192G), \u221287 (C\u2192G) and \u03b26 (\u20101bp)], in a group of \u03b2\u2010thalassemia heterozygotes of Italian descent in whom we excluded the presence of iron deficiency or deletion \u03b1\u2010thalassemia. The \u03b2\u2010thalassemia mutation was defined by dot blot analysis on amplified DNA with allelic specific oligonucleotide probes. We found that (a) heterozygotes for \u03b2<jats:sup>+<\/jats:sup> IVS\u2010I nt 6 and \u03b2<jats:sup>+<\/jats:sup> \u2010 87 mutations produce larger and better hemoglobinized red blood cells, and )b) heterozygotes for \u03b2<jats:sup>+<\/jats:sup>IVS\u2010I nt 6 and \u03b2<jats:sup>+<\/jats:sup>IVS\u2010I nt 110 mutations have a less marked increase of Hb A<jats:sub>2<\/jats:sub> levels as compared to heterozygotes for the other mutations investigated. These findings indicate that milder \u03b2\u2010thalassemia mutations such as the \u03b2<jats:sup>+<\/jats:sup>IVS\u2010I nt 6 and \u03b2<jats:sup>+<\/jats:sup> \u2010 87, express also in the heterozygous state a milder phenotype as compared to \u03b2\u00b0<jats:sup>+<\/jats:sup>\u2010thalassemia or severe \u03b2<jats:sup>+<\/jats:sup> thalassemia (\u03b2<jats:sup>+<\/jats:sup>IVS\u2010I, nt 110. The Hb A<jats:sub>2<\/jats:sub> levels, on the other hand, were not related to the severity of the mutation because of less marked increase was found in a mild (\u03b2<jats:sup>+<\/jats:sup>IVS\u2010I nt 6) as well in a severe (\u03b2<jats:sup>+<\/jats:sup>IVS\u2010I nt 110) mutation. From the practical point of view these findings should be adequately considered in carrier screening and genetic counselling.<\/jats:p>","DOI":"10.1002\/ajh.2830390102","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T12:46:10Z","timestamp":1172061970000},"page":"1-4","source":"Crossref","is-referenced-by-count":29,"title":["Heterozygous \u03b2\u2010thalassemia: Relationship between the hematological phenotype and the type of \u03b2\u2010thalassemia mutation"],"prefix":"10.1002","volume":"39","author":[{"given":"C.","family":"Rosatelli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. B.","family":"Leoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Tuveri","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. T.","family":"Scalas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Mosca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Galanello","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D.","family":"Gasperini","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Cao","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","volume-title":"The Thalassemia Syndromes","author":"Weatherall DJ","year":"1981"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1982.tb03916.x"},{"key":"e_1_2_1_4_2","doi-asserted-by":"crossref","first-page":"226","DOI":"10.1182\/blood.V62.1.226.226","article-title":"Phenotypic effect of heterozygous \u03b1 and \u03b2\u2010Thalassemia interaction","volume":"62","author":"Melis MA","year":"1983","journal-title":"Blood"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.3109\/03630268408996958"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1985.tb01209.x"},{"key":"e_1_2_1_7_2","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1182\/blood.V73.2.601.601","article-title":"Thalassemia intermedia resulting from a mild \u03b2\u2010Thalassemia mutation","volume":"73","author":"Rosatelli C","year":"1989","journal-title":"Blood"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1983.00189.x"},{"key":"e_1_2_1_9_2","first-page":"159","article-title":"\u03b2\u2010Thalassemia intermedia with high Hb F is associated with specific haplotypes","volume":"70","author":"Gurgey A","year":"1987","journal-title":"Blood"},{"key":"e_1_2_1_10_2","first-page":"700","article-title":"Microchromatography of hemoglobins III. 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