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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Specialty: Hematology Oncology
