Mutations in glutaredoxin 5 can result in a congenital sideroblastic anemia.

Chromosome: 14q32.13

Gene: GLRX5 (Glutaredoxin 5)

Function: mitochondrial protein involved in the biogenesis of iron-sulfur clusters used in iron homeostasis


Inheritance: autosomal recessive


Clinical features:

(1) congenital sideroblastic anemia

(2) pyridoxine refractory

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