{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T01:59:45Z","timestamp":1772762385915,"version":"3.50.1"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2006,7,11]],"date-time":"2006-07-11T00:00:00Z","timestamp":1152576000000},"content-version":"vor","delay-in-days":4240,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[1994,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A four base pair deletion 5\u2032 to <jats:sup>A<\/jats:sup>\u03b3<jats:sup>T<\/jats:sup>\u2010globin gene at positions \u2212222 to \u2212225 has been reported to reduce the expression of this gene. To evaluate the prevalence and effect of this deletion, PCR\u2010based methods were employed. The deletion had a gene frequency of 0.06 in a sample of African\u2010American individuals with sickle cell trait, 0.18 in adult African\u2010Americans with normal Hb AA, and 0.36 in caucasians. Seventy cord blood samples from African\u2010American newborns with Hb AA were evaluated by both HPLC and PCR. The frequency of the <jats:sup>A<\/jats:sup>\u03b3<jats:sup>T<\/jats:sup> allele was 0.13. The <jats:sup>A<\/jats:sup>\u03b3<jats:sup>T<\/jats:sup>\u2010globin chain was always present in a lower proportion than the <jats:sup>A<\/jats:sup>\u03b3<jats:sup>I<\/jats:sup> allele (70% of <jats:sup>A<\/jats:sup>\u03b3<jats:sup>I<\/jats:sup>), but the percentage of <jats:sup>A<\/jats:sup>\u03b3\u2010globin was the same whether or not <jats:sup>A<\/jats:sup>\u03b3<jats:sup>T<\/jats:sup> was present. The total percentage of Hb F, however, was significantly lower in the group with the <jats:sup>A<\/jats:sup>\u03b3<jats:sup>T<\/jats:sup> allele (77.1% vs. 87.4%, <jats:italic>P<\/jats:italic> &lt; 0.01). These results indicate that the four base pair deletion is not only associated with reduced expression of the <jats:sup>A<\/jats:sup>\u03b3<jats:sup>T<\/jats:sup> allele, but also of the <jats:sup>G<\/jats:sup>\u03b3 allele in <jats:italic>cis<\/jats:italic>, further suggesting a possible role of this region in the modulation of the expression of the linked \u03b3\u2010globin genes. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.2830470411","type":"journal-article","created":{"date-parts":[[2007,2,21]],"date-time":"2007-02-21T13:58:10Z","timestamp":1172066290000},"page":"307-311","source":"Crossref","is-referenced-by-count":8,"title":["A four base pair deletion 5\u2032 to the <sup>A<\/sup>\u03b3<sup>T<\/sup> gene is associated not only with decreased expression of the <sup>A<\/sup>\u03b3<sup>T<\/sup>\u2010globin gene, but also of the <sup>G<\/sup>\u03b3\u2010globin gene in <i>cis<\/i>"],"prefix":"10.1002","volume":"47","author":[{"given":"M. B.","family":"Coleman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"suffix":"III","given":"J. G.","family":"Adams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. H.","family":"Steinberg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W. P.","family":"Winter","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":"10.1007\/BF00221951"},{"key":"e_1_2_1_3_2","first-page":"170A","article-title":"\u03b2S and \u03b2A chromosomes with Eton haplotype show the four bp deletion in the promoter of the A\u03b3T globin gene in association with tighter binding of a nuclear protein","volume":"40","author":"Gilman JG","year":"1992","journal-title":"Clin Res"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1991.tb04390.x"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1988.tb04235.x"},{"key":"e_1_2_1_6_2","doi-asserted-by":"crossref","first-page":"480","DOI":"10.1182\/blood.V72.2.480.480","article-title":"Four categories of \u03b3\u2010globin gene triplications: DNA sequence comparison of low G\u03b3 and high G\u03b3 triplications","volume":"72","author":"Liu JZ","year":"1988","journal-title":"Blood"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830430418"},{"key":"e_1_2_1_8_2","first-page":"1815","volume-title":"Laboratory Detection of Hemoglobinopathies and Thalassemias, Hematology: Basic Principles and Practice","author":"Adams JG","year":"1991"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1080\/01483918408068849"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/3.9.2303"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2448875"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI114447"},{"key":"e_1_2_1_13_2","first-page":"2473","article-title":"A four\u2010base deletion 5\u2032 to the A\u03b3 globin gene is a common polymorphism","volume":"78","author":"Coleman MB","year":"1991","journal-title":"Blood"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830140205"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1159\/000208204"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00295821"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI109299"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197711100-00008"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.3109\/03630269108998857"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830450316"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.24.7407"},{"key":"e_1_2_1_22_2","first-page":"320","article-title":"An Agamma globin promoter (four base\u2010pair deletion) mutant shows linked polymorphic changes throughout the Agamma gene","volume":"20","author":"Harvey MP","year":"1992","journal-title":"Exp Hematol"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1984.tb03976.x"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.1976.tb01877.x"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.2830470411","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.2830470411","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T01:49:25Z","timestamp":1698112165000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.2830470411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,12]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1994,12]]}},"alternative-id":["10.1002\/ajh.2830470411"],"URL":"https:\/\/doi.org\/10.1002\/ajh.2830470411","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,12]]}}}