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Novel PKLR missense mutation (A300P) causing pyruvate kinase deficiency in an Omani Kindred - PK deficiency masquerading as Congenital Dyserythropoietic Anemia.
  • +6
  • Naglaa Fawaz,
  • Ismail Beshlawi ,
  • Alauldeen Alqasim,
  • Mathew Zachariah,
  • Roberta Russo,
  • Immacolata Andolfo,
  • Antonella Gambale,
  • Anil Pathare,
  • Achille Lolascon
Naglaa Fawaz
Sultan Qaboos University Hospital

Corresponding Author:[email protected]

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Ismail Beshlawi
Sultan Qaboos University Hospital
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Alauldeen Alqasim
Sultan Qaboos University Hospital
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Mathew Zachariah
Sultan Qaboos University Hospital
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Roberta Russo
CEINGE Biotecnologie Avanzate sc a rl
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Immacolata Andolfo
CEINGE Biotecnologie Avanzate sc a rl
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Antonella Gambale
CEINGE Biotecnologie Avanzate sc a rl
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Anil Pathare
SQUH
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Achille Lolascon
CEINGE Biotecnologie Avanzate sc a rl
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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
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