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

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, consist...

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Detalles Bibliográficos
Autores principales: Malherbe, Jacques A. J., Cole, Catherine H.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9558572/
https://www.ncbi.nlm.nih.gov/pubmed/36254154
http://dx.doi.org/10.1002/ccr3.6401
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author Malherbe, Jacques A. J.
Cole, Catherine H.
author_facet Malherbe, Jacques A. J.
Cole, Catherine H.
author_sort Malherbe, Jacques A. J.
collection PubMed
description 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.
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spelling pubmed-95585722022-10-16 Double trouble: A case of fraternal twins with iron‐refractory iron‐deficiency anemia Malherbe, Jacques A. J. Cole, Catherine H. Clin Case Rep Case Report 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. John Wiley and Sons Inc. 2022-10-13 /pmc/articles/PMC9558572/ /pubmed/36254154 http://dx.doi.org/10.1002/ccr3.6401 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Malherbe, Jacques A. J.
Cole, Catherine H.
Double trouble: A case of fraternal twins with iron‐refractory iron‐deficiency anemia
title Double trouble: A case of fraternal twins with iron‐refractory iron‐deficiency anemia
title_full Double trouble: A case of fraternal twins with iron‐refractory iron‐deficiency anemia
title_fullStr Double trouble: A case of fraternal twins with iron‐refractory iron‐deficiency anemia
title_full_unstemmed Double trouble: A case of fraternal twins with iron‐refractory iron‐deficiency anemia
title_short Double trouble: A case of fraternal twins with iron‐refractory iron‐deficiency anemia
title_sort double trouble: a case of fraternal twins with iron‐refractory iron‐deficiency anemia
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9558572/
https://www.ncbi.nlm.nih.gov/pubmed/36254154
http://dx.doi.org/10.1002/ccr3.6401
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