glutathione synthetase deficiency smear Constitutional Hematopoietic Disorders Inborn errors in the metabolism

Inborn errors in the metabolism of glutathione Orphanet Journal of Rare Diseases Springer Nature Link When red blood cells grow irregular spikes, the smear may be pointing toward membrane lipid damage: ACANTHOCYTES (SPUR CELLS). In hematology, acanthocytes are red blood cells with irregularly spaced, uneven, pointed Frontiers Usefulness of NGS for Diagnosis of Dominant Beta Thalassemia and Unstable Hemoglobinopathies in Five Clinical Cases Neuronal glutathione loss leads to neurodegeneration involving gasdermin activation Scientific Reports

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