%0 Case Reports
%T Transient erythroblastopenia due to a GATA1 variant in an infant female.
%A Yamashita M
%A Tomoda T
%A Mizuo A
%A Isoda T
%A Egawa M
%A Yoshida M
%A Toki T
%A Kudo K
%A Terui K
%A Ito E
%A Morio T
%A Takagi M
%J Pediatr Blood Cancer
%V 71
%N 3
%D 2024 Mar 27
%M 38149846
%F 3.838
%R 10.1002/pbc.30834
%X 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.