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

Autor:	Naglaa Fawaz, Ismail Beshlawi, Alauldeen Alqasim, Mathew Zachariah, Roberta Russo, Immacolata Andolfo, Antonella Gambale, Anil Pathare, Achille Iolascon
Jazyk:	angličtina
Rok vydání:	2022
Předmět:	congenital dyserythropoietic anemia hereditary anemia PKLR missense mutation (A300P) pyruvate kinase targeted next‐generation sequencing Medicine Medicine (General) R5-920
Zdroj:	Clinical Case Reports, Vol 10, Iss 2, Pp n/a-n/a (2022)
Druh dokumentu:	article
ISSN:	2050-0904
DOI:	10.1002/ccr3.5315
Popis:	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 congenital dyserythropoietic anemia (CDA). DNA studies, however, revealed the underlying condition to be due to a novel mutation in the PKLR gene responsible for pyruvate kinase deficiency (PKD). Molecular investigations by a targeted next‐generation sequencing (t‐NGS) using a custom panel of 71 genes involved in the red blood cell (RBC) disorders revealed that the patient was homozygous for a novel missense mutation c.898G>C, p.Ala300Pro, whereas both his parents were heterozygous for the same mutation.
Databáze:	Directory of Open Access Journals
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