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

Ne-Win, Keiko Harano, Teruo Harano, Thein-Thein-Myint, Rai-Mra, Aye-Aye-Myint, Kunio Shimono, Shigeru Okada
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引用次数: 6

摘要

采用聚合酶链反应对170例接受输血的缅甸裔患者进行了东南亚3种常见的α -地中海贫血(基因)缺失(-alpha3.7、-alpha4.2和-SEA)的筛查。在27例(15.9%)患者中检测到Thal缺失:(1)在12例杂合或血红蛋白(Hb) e - β - Thal病例中检测到α - Thal -2 (-alpha3.7/ α α);(2) 7例患者的α -thal-1 (2-alpha3.7/-alpha3.7和5 -SEA/ α α);(3) 8例患者Hb H (-alpha3.7/- SEA)。后15名α -1 -1和Hb H患者没有β -thal突变,占缅甸因难治性贫血而寻求输血的患者总数的8.8%。本文首次从分子角度对缅甸的alpha-thal进行了描述,并对其临床和种族异质性进行了描述和讨论。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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.

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