: 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.

Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia / Fawaz, Naglaa; Beshlawi, Ismail; Alqasim, Alauldeen; Zachariah, Mathew; Russo, Roberta; Andolfo, Immacolata; Gambale, Antonella; Pathare, Anil; Iolascon, Achille. - In: CLINICAL CASE REPORTS. - ISSN 2050-0904. - 10:2(2022), p. e05315. [10.1002/ccr3.5315]

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

Russo, Roberta;Andolfo, Immacolata;Gambale, Antonella;Iolascon, Achille
2022

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.
2022
Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred-PK deficiency masquerading as congenital dyserythropoietic anemia / Fawaz, Naglaa; Beshlawi, Ismail; Alqasim, Alauldeen; Zachariah, Mathew; Russo, Roberta; Andolfo, Immacolata; Gambale, Antonella; Pathare, Anil; Iolascon, Achille. - In: CLINICAL CASE REPORTS. - ISSN 2050-0904. - 10:2(2022), p. e05315. [10.1002/ccr3.5315]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/913770
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