Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred—PK deficiency masquerading as congenital dyserythropoietic anemia

We report herein a child with transfusion‐dependent chronic anemia, the cause of which was difficult to establish because of his transfusion dependency. The clinical and laboratory features suggested a chronic nonspherocytic hemolytic anemia (CNSHA) with bone marrow features suggestive of congenital...

Descripción completa

Detalles Bibliográficos
Autores principales: Fawaz, Naglaa, Beshlawi, Ismail, Alqasim, Alauldeen, Zachariah, Mathew, Russo, Roberta, Andolfo, Immacolata, Gambale, Antonella, Pathare, Anil, Iolascon, Achille
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8819580/
https://www.ncbi.nlm.nih.gov/pubmed/35154711
http://dx.doi.org/10.1002/ccr3.5315

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8819580/
https://www.ncbi.nlm.nih.gov/pubmed/35154711
http://dx.doi.org/10.1002/ccr3.5315

Ejemplares similares