Pyruvate Kinase Deficiency: Understanding a Rare Inherited Blood...

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2026-11-12 05:59:58 - ترجمة -

Pyruvate Kinase Deficiency: Understanding a Rare Inherited Blood Disorder

Pyruvate kinase deficiency (PKD) is a rare genetic disorder that affects red blood cells, leading to chronic hemolytic anemia. Because red blood cells lack sufficient pyruvate kinase — an enzyme essential for energy production — they break down prematurely, causing fatigue, jaundice, and in severe cases, life-threatening complications. For decades, treatment has relied largely on...

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