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Jacques Malherbe
Jacques Malherbe

Public Documents 1
Double Trouble: A Case of Fraternal Twins with Iron-Refractory Iron-Deficiency Anaemi...
Jacques Malherbe
Catherine Cole

Jacques Malherbe

and 1 more

August 15, 2022
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.

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