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Table 2 Enzymatic deficiencies associated with hemolytic anemia

From: Blood cytopenias as manifestations of inherited metabolic diseases: a narrative review

Most common

G6PD deficiency

AR

PK deficiency

AR

Impaired mental development

Phosphoglycerate kinase deficiency

X-linked

Glutathione synthetase deficiency

AR

Triosephosphate isomerase deficiency

AR

Myopathy

Phosphofructokinase deficiency

AR

Phosphoglycerate kinase deficiency

X-linked

Less common without extra-hematological symptoms

P5′N (most common after G6PD and PK deficiency)

AR

Adenylate kinase deficiency

AR

GPI deficiency

AR

Hexokinase deficiency

AR

Glutathione reductase deficiency*

AR

  1. AR: autosomal recessive; G6PD: glucose-6-phosphate dehydrogenase; GPI: glucose phosphate isomerase; P5′N: pyrimidine 5′ nucleotidase; PK: pyruvate kinase; *glutathione reductase deficiency can present with cataract