{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,10,22]],"date-time":"2023-10-22T18:17:24Z","timestamp":1697998644479},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"content-version":"vor","delay-in-days":7802,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[1985,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Restriction enzyme analysis of the \u03b1 and \u03b6 globin genes was carried out in four cases of Hb Bart's hydrops fetalis, in three patients with Hb H disease without Hb CoSp, in three patients with Hb H disease with Hb CoSp, in 47 individuals with \u03b1 thalassemia trait, and in 47 normal individuals. All four cases of Hb Bart's hydrops fetalis resulted from deletions of \u03b11 and \u03b12 globin genes which did not extend to the \u03c8\u03b61 and \u03b62 globin genes. The same type of deletion was observed in \u03b1 thal<jats:sub>1<\/jats:sub> carriers, but two newborns (one Malay and one of Chinese extraction) had a nondeletion type of \u03b1 thal<jats:sub>1<\/jats:sub> which was confirmed by quantitative \u03b1globin gene analysis. In addition, two other newborns diagnosed as \u03b1 thal<jats:sub>1<\/jats:sub> trait carriers (one Malay, one Chinese) were shown to have a deletion of both \u03b1 globin genes by quantitative \u03b1 globin gene analysis, but further testing with \u03b6 globin gene probe failed to reveal an abnormal fragment length characteristic of an \u03b1 globin gene deletion. We believe that this last condition is due to a large deletion which includes all \u03b1 globin genes and all \u03b6 globin genes on the same chromosome. On another front, Bgl II restriction analysis of all four Hb Bart's hydrops fetalis cases and the \u03b1 thal<jats:sub>1<\/jats:sub> trait carriers showed a 10.5\u2010kb Bgl II restriction fragment, in the hydrops fetalis as a single band, while in the carriers this 10.5\u2010kb fragment was accompanied by the usual normal 12.5\u2010kb and 11.3\u2010kb fragments. We report that this 10.5\u2010kb fragment, previously thought to be specific for the Southeast Asian \u03b1 thal<jats:sub>1<\/jats:sub> gene deletion, is also common in normal individuals. Nevertheless, digestion with other enzymes can clearly differentiate the \u03b1 thal<jats:sub>1<\/jats:sub> and normal genotypes. We distinguish the findings in the \u03b1 thalassemias from the extensive DNA polymorphism in the region of the \u03b1 and \u03b6 globin genes.<\/jats:p>","DOI":"10.1002\/ajh.2830180311","type":"journal-article","created":{"date-parts":[[2008,10,17]],"date-time":"2008-10-17T17:02:37Z","timestamp":1224262957000},"page":"289-296","source":"Crossref","is-referenced-by-count":7,"title":["Gene mapping of malaysian \u03b1 thalassemias with \u03b1 and \u03b6 globin gene probes"],"prefix":"10.1002","volume":"18","author":[{"given":"Luan Eng","family":"Lie\u2010Injo","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex R.","family":"Herrera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roger V.","family":"Lebo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khalid","family":"Hassan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cynthia G.","family":"Lopez","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","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(80)90240-8"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/286538a0"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197711172972002"},{"key":"e_1_2_1_5_2","volume-title":"The Thalassemia Syndromes","author":"Weatherall DJ","year":"1981"},{"key":"e_1_2_1_6_2","first-page":"37","article-title":"Alpha\u2010thalassemia","volume":"4","author":"Higgs DR","year":"1983","journal-title":"Curr Top Hematol"},{"key":"e_1_2_1_7_2","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1182\/blood.V59.2.370.370","article-title":"Hb Bart's level in cord blood and deletions of \u03b1 globin genes","volume":"59","author":"Lie\u2010Injo LE","year":"1982","journal-title":"Blood"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1159\/000152400"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/251392a0"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-2836(77)90052-3"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.72.3.1184"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(75)80083-0"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.6.3586"},{"key":"e_1_2_1_14_2","first-page":"549","article-title":"Deletion of the entire human \u03b1\u2010globin gene cluster","volume":"32","author":"Chang JC","year":"1984","journal-title":"Abstr Assoc Am Phys"},{"key":"e_1_2_1_15_2","doi-asserted-by":"crossref","first-page":"1253","DOI":"10.1182\/blood.V63.5.1253.1253","article-title":"The rare \u03b1 thalassemia\u20101 of Blacks is a \u03b6\u03b1\u2010thalassemia\u20101 associated with deletion of all \u03b1 and \u03b6\u2010globin genes","volume":"63","author":"Felice AE","year":"1984","journal-title":"Blood"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.78.9.5833"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.2830180311","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.2830180311","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T19:00:03Z","timestamp":1697828403000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.2830180311"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,3]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1985,3]]}},"alternative-id":["10.1002\/ajh.2830180311"],"URL":"https:\/\/doi.org\/10.1002\/ajh.2830180311","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,3]]}}}