P535: Therapeutic phlebotomy in the management of iron overload in pyruvate kinase deficiency

Genetics in Medicine Open 2026 Open access

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Authors: Valerie Sency, Bea Torres-Fults, Heng Wang
DOI: 10.1016/j.gimo.2026.104027
Cited by: 0

Abstract

Pyruvate kinase deficiency (PKD) is a rare congenital non-spherocytic hemolytic anemia caused by homozygous variants or compound heterozygous in the PKLR gene on chromosome 1q21. The resulting glycolytic defect reduces adenosine triphosphate (ATP) production, leading to shortened red blood cell survival due to impaired membrane integrity and increased splenic clearance. Current treatments are primarily supportive, including red cell transfusions and splenectomy.

Fields of Study & Subjects

Hemoglobinopathies and Related Disorders Iron Metabolism and Disorders Neonatal Health and Biochemistry

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104027–104027
Publication date
1 January 2026
Language
EN