Transient erythroblastopenia due to a GATA1 variant in an infant female

Pediatr Blood Cancer. 2024 Mar;71(3):e30834. doi: 10.1002/pbc.30834. Epub 2023 Dec 27.

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.

Keywords: Diamond-Blackfan anemia; GATA1; female; lyonization; transient erythroblastopenia.

Publication types

  • Case Reports

MeSH terms

  • Anemia, Aplastic*
  • Anemia, Diamond-Blackfan* / genetics
  • Anemia, Hemolytic, Congenital*
  • Erythropoiesis
  • Female
  • GATA1 Transcription Factor / genetics
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Ribosomal Proteins / genetics

Substances

  • Ribosomal Proteins
  • GATA1 protein, human
  • GATA1 Transcription Factor

Supplementary concepts

  • Transient erythroblastopenia of childhood