Article

Double Trouble: A Case of Fraternal Twins with Iron-Refractory Iron-Deficiency Anaemia

2022-08-15

Abstract excerpt

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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Literature Corpus work: 9e60b684-25c0-5963-9193-3217a233206a
DOI: 10.22541/au.166053966.65045324/v1

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