Double trouble: A case of fraternal twins with iron‐refractory iron‐deficiency anemia

Abstract

Abstract Iron‐refractory iron‐deficiency anemia (IRIDA) is a rare autosomal recessive disease that presents in childhood. We report the case of fraternal twins presenting with severe hypochromic microcytic anemia and hypoferritinemia. Two missense mutations affecting the TRMPSS6 gene were identified, consistent with IRIDA. Subsequent parenteral iron therapy improved clinical and blood parameters.

Keywords

• anemia
• hypoferritinemia
• iron deficiency