Pyruvate Kinase (PK) Deficiency
from OrphaChat — a Rare Disease Podcast Hosted by RCH
Pyruvate kinase (PK) deficiency is a rare, inherited genetic disorder caused by mutations in the PKLR gene, which leads to the premature destruction of red blood cells. These sources detail how the resulting chronic hemolytic anemia varies significantly in severity, ranging from asymptomatic cases to life-threatening complications like hydrops fetalis or severe neonatal jaundice. Common long-term health challenges include iron overload, gallstones, and reduced bone density, which necessitate lifelong monitoring of ferritin levels and organ function. Standard management traditionally involves blood transfusions and splenectomy, though newer medical advances have introduced mitapivat, the first approved disease-modifying drug to improve hemoglobin levels. Ongoing research also explores gene therapy as a potential curative option by correcting the underlying genetic defect in stem cells. Furthermore, specialized clinical guidelines emphasise the importance of multidisciplinary care, particularly during high-stress periods such as pregnancyor acute infections.
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