Ventura A, Panizon F, Soranzo M R, Veneziano G, Sansone G, Testa U, Luzzatto L
Acta Haematol. 1984;71(4):227-34. doi: 10.1159/000206592.
A 6-year-old boy with chronic haemolytic anaemia was found to have glucose 6-phosphate dehydrogenase (G6PD) deficiency and the morphological, ultrastructural and serological features of congenital dyserythropoietic anaemia (CDA) type II. The patient's mother was heterozygous for G6PD deficiency. G6PD from the patient's red cells, upon partial purification and full characterization, was found to be a new variant designated G6PD Gabrovizza. We conclude that two distinct genetic abnormalities coexisted in this patient. We suggest that CDA type II may become clinically more expressed when another abnormality of the erythrocytes coexists.
一名患有慢性溶血性贫血的6岁男孩被发现患有葡萄糖-6-磷酸脱氢酶（G6PD）缺乏症以及II型先天性红细胞生成异常性贫血（CDA）的形态学、超微结构和血清学特征。患者的母亲为G6PD缺乏症的杂合子。对患者红细胞中的G6PD进行部分纯化和全面表征后，发现它是一种新的变异体，命名为G6PD加布罗维察。我们得出结论，该患者存在两种不同的基因异常。我们认为，当红细胞存在另一种异常时，II型CDA在临床上可能会表现得更为明显。
