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Article

Genetic Diagnosis of Pyruvate Kinase Deficiency in Undiagnosed Iranian Patients with Severe Hemolytic Anemia, using Whole Exome Sequencing.

Archives of Iranian medicine - 1 Oct 2022

Mehrabi Sisakht Jafar, Mehri Maghsood, Najmabadi Hossein, Azarkeivan Azita, Neishabury Maryam

Abstract excerpt

BACKGROUND: After ruling out the most common causes of severe hemolytic anemia by routine diagnostic tests, certain patients remain without a diagnosis. The aim of this study was to elucidate the genetic cause of the disease in these patients using next generation sequencing (NGS). METHODS: Four unrelated Iranian families including six blood transfusion dependent cases and their parents were referred to us from a...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37542401
DOI: 10.34172/aim.2022.108
PMCID: PMC10685872

Genes

PKLR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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