Gangarossa S, Romano V, Miraglia del Giudice E, Perrotta S, Iolascon A, Schiliro G
Divisione di Ematologia-Oncologia Pediatrica, Università di Catania, Italia.
Acta Haematol. 1995;93(1):36-9. doi: 10.1159/000204087.
A 2-year-old Sicilian boy was investigated because of chronic nonspherocytic hemolytic anemia (CNSHA) associated with hepatosplenomegaly. Appropriate studies revealed deficiency of glucose-6-phosphate dehydrogenase type Seattle (G6PD Seattle). In addition, bone marrow morphology, serological studies and analysis of red cell membrane proteins revealed congenital dyserythropoietic anemia (CDA) type II (or HEMPAS). Because G6PD Seattle on its own does not cause CNSHA, we believe that the clinical manifestations in this patient are essentially due to the CDA type II abnormality. However, the coexistence of these two different red cell abnormalities may affect the clinical picture specifically by making CDA type II more hemolytic than it would have been otherwise.
一名2岁的西西里男孩因慢性非球形红细胞溶血性贫血（CNSHA）伴肝脾肿大而接受检查。相关研究显示其缺乏西雅图型葡萄糖-6-磷酸脱氢酶（G6PD西雅图型）。此外，骨髓形态学、血清学研究以及红细胞膜蛋白分析显示为Ⅱ型先天性红细胞生成异常性贫血（CDAⅡ型，或HEMPAS）。由于单独的G6PD西雅图型不会导致CNSHA，我们认为该患者的临床表现主要归因于CDAⅡ型异常。然而，这两种不同红细胞异常的共存可能会特别影响临床表现，使CDAⅡ型比原本更具溶血性。
