{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T06:56:48Z","timestamp":1785394608094,"version":"3.55.0"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,2,17]],"date-time":"2004-02-17T00:00:00Z","timestamp":1076976000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J Hematol"],"published-print":{"date-parts":[[2004,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hb H disease is generally associated with moderate to severe anemia but rarely requires regular blood transfusion. We recently studied two apparently unrelated patients with transfusion\u2010dependent Hb H disease. Hemoglobin studies demonstrated Hb H and Hb Bart's without other detectable abnormal globin species. Extensive molecular analyses of the \u03b1 globin genes and their regulatory sequence (HS\u201040) revealed that both patients are compound heterozygotes for \u03b1<jats:sup>0<\/jats:sup> thalassemia (\u2212\u2212<jats:sup>SEA<\/jats:sup>) and a novel point mutation, a thymidine insertion after codon 131 of the \u03b11 gene. The resulting frameshift gives rise to a highly unstable \u03b1 globin chain, which we refer to as \u201cHb Pak Num Po,\u201d containing an additional 34 amino acids. This unusual \u03b11 globin variant clearly causes \u03b1 thalassemia, but the unexpectedly severe phenotype suggests that this mutation may have additional effects on red cell physiology. A PCR\u2010based (ARMS) assay was developed for rapid detection of this novel mutation, and this might be useful to study the prevalence of this novel mutation which poses potentially significant clinical consequences in populations of Southeast Asia. Detecting carriers of this mutation using the molecular diagnostic procedures described will provide the means to screen and prevent a potentially severe form of \u03b1 thalassemia in Thailand. Am. J. Hematol. 75:157\u2013163, 2004. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajh.10479","type":"journal-article","created":{"date-parts":[[2004,2,18]],"date-time":"2004-02-18T09:01:32Z","timestamp":1077094892000},"page":"157-163","source":"Crossref","is-referenced-by-count":28,"title":["Co\u2010inheritance of Hb Pak Num Po, a novel \u03b11 gene mutation, and \u03b1<sup>0<\/sup> thalassemia associated with transfusion\u2010dependent Hb H disease"],"prefix":"10.1002","volume":"75","author":[{"given":"Vip","family":"Viprakasit","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Voravarn S.","family":"Tanphaichitr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gavivann","family":"Veerakul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Worrawut","family":"Chinchang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Siripan","family":"Petrarat","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Parichat","family":"Pung\u2010Amritt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglas R.","family":"Higgs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,2,17]]},"reference":[{"key":"e_1_2_1_2_2","first-page":"431","volume-title":"Disorders of hemoglobin","author":"Higgs DR","year":"2001"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200008243430804"},{"key":"e_1_2_1_4_2","first-page":"405","volume-title":"Disorders of hemoglobin","author":"Higgs DR","year":"2001"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.1997.d01-2017.x"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2001.03080.x"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1081\/HEM-100107874"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2002.03427.x"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2000.01870.x"},{"key":"e_1_2_1_10_2","first-page":"117","article-title":"Clinical phenotypes and molecular characterization of Hb H\u2010Paks\u00e9 disease","volume":"87","author":"Viprakasit V","year":"2002","journal-title":"Haematologica"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2141.2001.02823.x"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.14.5165"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajh.2830440410"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2000.0307"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/296864a0"}],"container-title":["American Journal of Hematology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajh.10479","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajh.10479","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,18]],"date-time":"2023-11-18T00:56:54Z","timestamp":1700269014000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajh.10479"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,2,17]]},"references-count":14,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2004,3]]}},"alternative-id":["10.1002\/ajh.10479"],"URL":"https:\/\/doi.org\/10.1002\/ajh.10479","archive":["Portico"],"relation":{},"ISSN":["0361-8609","1096-8652"],"issn-type":[{"value":"0361-8609","type":"print"},{"value":"1096-8652","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,2,17]]}}}