autosomal recessive pyridoxine-refractory sideroblastic anemia 2

A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene.

Signs and symptoms

• Elevated transferrin saturation
• Increased circulating ferritin concentration
• Decreased mean corpuscular volume
• Anemia
• Hypochromia
• Sideroblastic anemia

Also known as: autosomal recessive pyridoxine-refractory sideroblastic anaemia 2; pyridoxine-refractory autosomal recessive sideroblastic anaemia; pyridoxine-refractory autosomal recessive sideroblastic anemia