Fucharoen Supan, Panyasai Sitthichai, Surapot Satja, Fucharoen Goonnapa, Sanchaisuriya Kanokwan
Department of Clinical Chemistry, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand.
Am J Hematol. 2005 Oct;80(2):119-23. doi: 10.1002/ajh.20426.
We report a hitherto undescribed interaction of a deletional (deltabeta) degrees -thalassemia and a deletional hereditary persistence of fetal hemoglobin (HPFH) in an adult Thai individual. He was a 40-year-old Thai male who had the following hematologic data: Hb 13.9 g/dL, Hct 43.8%, MCV 78.0 fL, MCH 24.7 pg, MCHC 31.6 g/dL, and RDW 17.1%. Hemoglobin analysis revealed 97% Hb F with Ggamma-globin chain predominant. Globin gene analyses demonstrated that he carried the GgammaAgamma(deltabeta) degrees -thalassemia deletion in trans to the HPFH-6. Hematologic data of the patient were compared to those of the heterozygotes for these high-Hb F determinants found in his parents and an unrelated Thai patient with a compound HPFH-6/deletion-inversion Ggamma(Agammadeltabeta) degrees -thalassemia previously described.
我们报告了一名成年泰国个体中一种此前未被描述的缺失型（δβ）0-地中海贫血与缺失型胎儿血红蛋白遗传性持续存在（HPFH）的相互作用。他是一名40岁的泰国男性，其血液学数据如下：血红蛋白13.9 g/dL，血细胞比容43.8%，平均红细胞体积78.0 fL，平均红细胞血红蛋白含量24.7 pg，平均红细胞血红蛋白浓度31.6 g/dL，红细胞分布宽度17.1%。血红蛋白分析显示97%为Hb F，以Gγ-珠蛋白链为主。珠蛋白基因分析表明，他携带的GγAγ（δβ）0-地中海贫血缺失与HPFH-6呈反式。将该患者的血液学数据与在其父母中发现的这些高Hb F决定因素的杂合子以及一名先前描述的患有复合HPFH-6/缺失-倒位Gγ（Aγδβ）0-地中海贫血的无关泰国患者的数据进行了比较。
