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

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  • المؤلفون: Malherbe, Jacques A. J.; Cole, Catherine H.
  • المصدر:
    Clinical Case Reports ; volume 10, issue 10 ; ISSN 2050-0904 2050-0904
  • نوع التسجيلة:
    article in journal/newspaper
  • اللغة:
    English
  • معلومة اضافية
    • بيانات النشر:
      Wiley
    • الموضوع:
      2022
    • Collection:
      Wiley Online Library (Open Access Articles via Crossref)
    • نبذة مختصرة :
      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.
    • الرقم المعرف:
      10.1002/ccr3.6401
    • الدخول الالكتروني :
      https://doi.org/10.1002/ccr3.6401
      http://dx.doi.org/10.1002/ccr3.6401
      https://onlinelibrary.wiley.com/doi/pdf/10.1002/ccr3.6401
      https://onlinelibrary.wiley.com/doi/full-xml/10.1002/ccr3.6401
    • Rights:
      http://creativecommons.org/licenses/by/4.0/
    • الرقم المعرف:
      edsbas.A79F4E20