Laks Kane M, Hirner Cara, Gruner Barbara, Coberly Jared, Laziuk Katsiaryna, Sathi Bindu Kanathezhath
Department of Pediatrics, University of Missouri School of Medicine, Columbia, MO, USA.
Department of Pathological Sciences, University of Missouri School of Medicine, Columbia, MO, USA.
Case Rep Hematol. 2020 Oct 30;2020:8869335. doi: 10.1155/2020/8869335. eCollection 2020.
EF Bart's disease is a rare form of nontransfusion-dependant thalassemia (NTDT) due to the coinheritance of homozygous hemoglobin ( / ) genotype with hemoglobin H disease. These individuals are routinely found to have thalassemia intermedia with moderate anemia, increased hemoglobin Bart's and hemoglobin F on electrophoresis. The contribution of hemoglobin F-inducing polymorphisms in this disease has not been described previously. Here, we describe the hematological profile in a young child with coinheritance of G-XmnI and A-globin gene polymorphisms in EF Bart's disease. Interestingly, in this rare form of NTDT, normal HbF and elevated HbA2 were noted.
EF 巴氏病是一种罕见的非输血依赖型地中海贫血（NTDT），它是由于纯合血红蛋白（/）基因型与血红蛋白 H 病共同遗传所致。这些个体通常表现为中度贫血的中间型地中海贫血，电泳显示血红蛋白 Bart 氏和血红蛋白 F 增加。此前尚未描述过血红蛋白 F 诱导多态性在该疾病中的作用。在此，我们描述了一名患有 EF 巴氏病且同时遗传了 G-XmnI 和 A-珠蛋白基因多态性的幼儿的血液学特征。有趣的是，在这种罕见的 NTDT 形式中，观察到了正常的 HbF 和升高的 HbA2。
