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

Jacques A. J. Malherbe; Catherine H. Cole

doi:10.1002/ccr3.6401

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

Jacques A. J. Malherbe, Catherine H. Cole

School of Biomedical Sciences

Research output: Contribution to journal › Article › peer-review

Abstract

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.

Original language	English
Number of pages	5
Journal	Clinical Case Reports
Volume	10
Issue number	10
DOIs	https://doi.org/10.1002/ccr3.6401
Publication status	Published - Oct 2022

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10.1002/ccr3.6401Licence: CC BY-NC-ND

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title = "Double trouble: A case of fraternal twins with iron-refractory iron-deficiency anemia",

abstract = "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.",

keywords = "anemia, hypoferritinemia, iron deficiency, TMPRSS6, MUTATIONS, HEPCIDIN",

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AU - Malherbe, Jacques A. J.

AU - Cole, Catherine H.

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N2 - 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.

AB - 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.

KW - anemia

KW - hypoferritinemia

KW - iron deficiency

KW - TMPRSS6

KW - MUTATIONS

KW - HEPCIDIN

U2 - 10.1002/ccr3.6401

DO - 10.1002/ccr3.6401

M3 - Article

C2 - 36254154

VL - 10

JO - Clinical Case Reports

JF - Clinical Case Reports

SN - 2050-0904

IS - 10

ER -

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

Abstract

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