Transient erythroblastopenia due to a GATA1 variant in an infant female.
Pediatr Blood Cancer
; 71(3): e30834, 2024 Mar.
Article
en En
| MEDLINE
| ID: mdl-38149846
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Anemia de Diamond-Blackfan
/
Anemia Aplásica
/
Anemia Hemolítica Congénita
Límite:
Female
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Humans
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Infant
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Male
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Newborn
Idioma:
En
Revista:
Pediatr Blood Cancer
Asunto de la revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Año:
2024
Tipo del documento:
Article
País de afiliación:
Japón