Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred - PK deficiency masquerading as Congenital Dyserythropoietic Anemia.

Naglaa Fawaz; Ismail Beshlawi; Alauldeen Alqasim; Mathew Zachariah; Roberta Russo; Immacolata Andolfo; Antonella Gambale; Anil Pathare; Achille Lolascon

doi:10.22541/au.163654213.30964880/v1

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Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred - PK deficiency masquerading as Congenital Dyserythropoietic Anemia.

Naglaa Fawaz,
Ismail Beshlawi ,
Alauldeen Alqasim,
Mathew Zachariah,
Roberta Russo,
Immacolata Andolfo,
Antonella Gambale,
Anil Pathare,
Achille Lolascon

Abstract

A 15 year child is presented with transfusion dependent chronic anemia. The clinical and laboratory features suggested a chronic nonspherocytic hemolytic anemia (CNSHA) with bone marrow suggestive of congenital dyserythropoietic anemia (CDA). DNA studies revealed the underlying novel mutation in the PKLR gene responsible for pyruvate kinase deficiency.

01 Nov 2021Submitted to Clinical Case Reports

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05 Nov 2021Submission Checks Completed

05 Nov 2021Assigned to Editor

10 Nov 2021Reviewer(s) Assigned

05 Dec 2021Review(s) Completed, Editorial Evaluation Pending

05 Dec 2021Editorial Decision: Revise Minor

28 Dec 20211st Revision Received

29 Dec 2021Submission Checks Completed

29 Dec 2021Assigned to Editor

29 Dec 2021Review(s) Completed, Editorial Evaluation Pending

02 Jan 2022Editorial Decision: Accept

Feb 2022Published in Clinical Case Reports volume 10 issue 2. 10.1002/ccr3.5315

Abstract

Peer review status:Published