{"title":"缅甸东南亚地区输血依赖型地中海贫血患者中常见的α -地中海贫血缺失","authors":"Ne-Win, Keiko Harano, Teruo Harano, Thein-Thein-Myint, Rai-Mra, Aye-Aye-Myint, Kunio Shimono, Shigeru Okada","doi":"10.1532/LH96.06017","DOIUrl":null,"url":null,"abstract":"<p><p>Screening of 3 common alpha-thalassemia (thal) deletions (-alpha3.7, -alpha4.2 and --SEA) in Southeast Asia was done by polymerase chain reaction in 170 unrelated Myanmar thal patients receiving transfusions. Thal deletions were detected in 27 patients (15.9%) as: (1) alpha-thal-2 (-alpha3.7/alphaalpha) in 12 heterozygous or hemoglobin (Hb) E-beta-thal cases; (2) alpha-thal-1 in 7 patients (2-alpha3.7/-alpha3.7 and 5 --SEA/alphaalpha); and (3) Hb H (-alpha3.7/--SEA) in 8 patients. The latter 15 alpha-thal-1 and Hb H patients had no beta-thal mutations and represented 8.8% of the overall patients seeking transfusion for refractory anemia in Myanmar. This is the first description of alpha-thal in Myanmar from the molecular aspect, and its clinical and racial heterogeneity are described and discussed.</p>","PeriodicalId":85078,"journal":{"name":"Laboratory hematology : official publication of the International Society for Laboratory Hematology","volume":"12 3","pages":"139-42"},"PeriodicalIF":0.0000,"publicationDate":"2006-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"6","resultStr":"{\"title\":\"Common alpha-thalassemia deletions in transfusion-dependent thalassemia patients in the Southeast Asia region of Myanmar.\",\"authors\":\"Ne-Win, Keiko Harano, Teruo Harano, Thein-Thein-Myint, Rai-Mra, Aye-Aye-Myint, Kunio Shimono, Shigeru Okada\",\"doi\":\"10.1532/LH96.06017\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Screening of 3 common alpha-thalassemia (thal) deletions (-alpha3.7, -alpha4.2 and --SEA) in Southeast Asia was done by polymerase chain reaction in 170 unrelated Myanmar thal patients receiving transfusions. Thal deletions were detected in 27 patients (15.9%) as: (1) alpha-thal-2 (-alpha3.7/alphaalpha) in 12 heterozygous or hemoglobin (Hb) E-beta-thal cases; (2) alpha-thal-1 in 7 patients (2-alpha3.7/-alpha3.7 and 5 --SEA/alphaalpha); and (3) Hb H (-alpha3.7/--SEA) in 8 patients. The latter 15 alpha-thal-1 and Hb H patients had no beta-thal mutations and represented 8.8% of the overall patients seeking transfusion for refractory anemia in Myanmar. This is the first description of alpha-thal in Myanmar from the molecular aspect, and its clinical and racial heterogeneity are described and discussed.</p>\",\"PeriodicalId\":85078,\"journal\":{\"name\":\"Laboratory hematology : official publication of the International Society for Laboratory Hematology\",\"volume\":\"12 3\",\"pages\":\"139-42\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2006-01-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"6\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Laboratory hematology : official publication of the International Society for Laboratory Hematology\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1532/LH96.06017\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Laboratory hematology : official publication of the International Society for Laboratory Hematology","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1532/LH96.06017","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
Common alpha-thalassemia deletions in transfusion-dependent thalassemia patients in the Southeast Asia region of Myanmar.
Screening of 3 common alpha-thalassemia (thal) deletions (-alpha3.7, -alpha4.2 and --SEA) in Southeast Asia was done by polymerase chain reaction in 170 unrelated Myanmar thal patients receiving transfusions. Thal deletions were detected in 27 patients (15.9%) as: (1) alpha-thal-2 (-alpha3.7/alphaalpha) in 12 heterozygous or hemoglobin (Hb) E-beta-thal cases; (2) alpha-thal-1 in 7 patients (2-alpha3.7/-alpha3.7 and 5 --SEA/alphaalpha); and (3) Hb H (-alpha3.7/--SEA) in 8 patients. The latter 15 alpha-thal-1 and Hb H patients had no beta-thal mutations and represented 8.8% of the overall patients seeking transfusion for refractory anemia in Myanmar. This is the first description of alpha-thal in Myanmar from the molecular aspect, and its clinical and racial heterogeneity are described and discussed.