Transient erythroblastopenia due to a GATA1 variant in an infant female.
Diamond-Blackfan anemia
GATA1
female
lyonization
transient erythroblastopenia
Journal
Pediatric blood & cancer
ISSN: 1545-5017
Titre abrégé: Pediatr Blood Cancer
Pays: United States
ID NLM: 101186624
Informations de publication
Date de publication:
27 Dec 2023
27 Dec 2023
Historique:
revised:
11
12
2023
received:
09
08
2023
accepted:
16
12
2023
medline:
27
12
2023
pubmed:
27
12
2023
entrez:
27
12
2023
Statut:
aheadofprint
Résumé
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.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e30834Subventions
Organisme : Ministry of Health, Labor and Welfare
Informations de copyright
© 2023 Wiley Periodicals LLC.
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