Double Trouble: A Case of Fraternal Twins with Iron-Refractory
Iron-refractory iron-deficiency anaemia (IRIDA) is a rare autosomal
recessive disease that presents in childhood. We report the case of
fraternal twins presenting with severe hypochromic microcytic anaemia
and hypoferritinemia. Two missense mutations affecting the
TRMPSS6 gene were identified, consistent with IRIDA. Subsequent
parenteral iron therapy improved clinical and blood parameters.