{Reference Type}: Case Reports
{Title}: Transient erythroblastopenia due to a GATA1 variant in an infant female.
{Author}: Yamashita M;Tomoda T;Mizuo A;Isoda T;Egawa M;Yoshida M;Toki T;Kudo K;Terui K;Ito E;Morio T;Takagi M;
{Journal}: Pediatr Blood Cancer
{Volume}: 71
{Issue}: 3
{Year}: 2024 Mar 27
{Factor}: 3.838
{DOI}: 10.1002/pbc.30834
{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.