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

Jacques A J Malherbe; Catherine H Cole

doi:10.1002/ccr3.6401

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

Clin Case Rep. 2022 Oct 13;10(10):e6401. doi: 10.1002/ccr3.6401. eCollection 2022 Oct.

Authors

Jacques A J Malherbe^{1

2}, Catherine H Cole³

Affiliations

¹ Department of Haematology Fiona Stanley Hospital Murdoch Western Australia Australia.
² School of Biomedical Sciences University of Western Australia Crawley Western Australia Australia.
³ Saturn Pathology Stirling Western Australia Australia.

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.

Publication types

Case Reports