autosomal recessive pyridoxine-refractory sideroblastic anemia 3

A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32.

Signs and symptoms

• Decreased mean corpuscular volume
• Hepatomegaly
• Increased circulating ferritin concentration
• Erythroid hyperplasia
• Anisocytosis
• Conjugated hyperbilirubinemia
• Elevated hepatic iron concentration
• Anemia
• Hypochromia
• Hepatosplenomegaly