Megaloblastic anemia with homocystinuria type cblE: Atypical presentation in a pediatric patient with high transfusion requirement and autoimmune phenomena

Pediatr Blood Cancer. 2024 Apr;71(4):e30867. doi: 10.1002/pbc.30867. Epub 2024 Jan 12.

Authors

Estefania Rossetti¹, Carolina Pepe², Silvia Eandi Eberle³, Veronica Bindi⁴, Diego Fernandez³, Leandro Nieto³, Maria Magdalena Gonzalez³, Vanesa Avalos¹

Affiliations

¹ Pediatric Hematology and Oncology Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina.
² Molecular Biology Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina.
³ Inborn Errors of Metabolism Department, Hospital de Pediatría Juan P. Garrahan, Buenos Aires, Argentina.
⁴ Hospital de Pediatría Juan P. Garrahan, Biochemistry Laboratory, Buenos Aires, Argentina.

PMID: 38217084
DOI: 10.1002/pbc.30867

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Anemia, Megaloblastic* / etiology
Child
Homocystinuria* / complications
Homocystinuria* / therapy
Humans
Vitamin B 12

Substances

Vitamin B 12