Abstract：
Diamond-Blackfan anemia (DBA) is a congenital anemia with erythroid cell aplasia. Most of the causative genes are ribosomal proteins. GATA1, a hematopoietic master transcription factor required for erythropoiesis, also causes DBA. GATA1 is located on Xp11.23; therefore, DBA develops only in males in an X-linked inheritance pattern. Here, we report a case of transient erythroblastopenia and moderate anemia in a female newborn infant with a de novo GATA1 variant. In this patient, increased methylation of the GATA1 wild-type allele was observed in erythroid cells. Skewed lyonization of GATA1 may cause mild transient erythroblastopenia in a female patient.
摘要：
Diamond-Blackfan贫血（DBA）是一种先天性贫血，伴有红细胞发育不全。大多数致病基因是核糖体蛋白。GATA1，红细胞生成所需的造血主转录因子，也是DBA的原因。GATA1位于Xp11.23；因此，DBA仅在X连锁遗传模式的雄性中发育。这里,我们报告了1例女性新生婴儿的短暂性红细胞减少症和中度贫血，该婴儿具有从头GATA1变异。在这个病人身上,在红系细胞中观察到GATA1野生型等位基因甲基化增加.GATA1的倾斜溶解可能会导致女性患者轻度短暂性红细胞减少症。
