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

Abstract 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 c...

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Autores principales:	Naglaa Fawaz, Ismail Beshlawi, Alauldeen Alqasim, Mathew Zachariah, Roberta Russo, Immacolata Andolfo, Antonella Gambale, Anil Pathare, Achille Iolascon
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2022-02-01
Colección:	Clinical Case Reports
Materias:	congenital dyserythropoietic anemia hereditary anemia PKLR missense mutation (A300P) pyruvate kinase targeted next‐generation sequencing
Acceso en línea:	https://doi.org/10.1002/ccr3.5315
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