Iron Deficiency Anemia

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Frank R Greer - One of the best experts on this subject based on the ideXlab platform.

Karin E. Finberg - One of the best experts on this subject based on the ideXlab platform.

  • Iron refractory Iron Deficiency Anemia irida
    Hematology-oncology Clinics of North America, 2014
    Co-Authors: Matthew M. Heeney, Karin E. Finberg
    Abstract:

    Iron Deficiency Anemia is a common global problem whose etiology is typically attributed to acquired inadequate dietary intake and/or chronic blood loss. However, in several kindreds multiple family members are affected with Iron Deficiency Anemia that is unresponsive to oral Iron supplementation and only partially responsive to parenteral Iron therapy. The discovery that many of these cases harbor mutations in the TMPRSS6 gene led to the recognition that they represent a single clinical entity: Iron-refractory Iron Deficiency Anemia (IRIDA). This article reviews clinical features of IRIDA, recent genetic studies, and insights this disorder provides into the regulation of systemic Iron homeostasis.

  • Iron refractory Iron Deficiency Anemia
    Seminars in Hematology, 2009
    Co-Authors: Karin E. Finberg
    Abstract:

    Iron-refractory Iron Deficiency Anemia (IRIDA) is an autosomal recessive disorder characterized by Iron Deficiency Anemia unresponsive to oral Iron treatment but partially responsive to parenteral Iron therapy. IRIDA has recently been shown to be caused by mutations in the gene TMPRSS6, which encodes a transmembrane serine protease (also known as matriptase-2) expressed by the liver. IRIDA patients show inappropriately elevated levels of hepcidin, a circulating hormone produced by the liver that inhibits both Iron absorption from the intestine and Iron release from macrophage stores. Recent studies suggest that TMPRSS6 normally acts to downregulate hepcidin expression by cleaving hemojuvelin, a membrane-bound protein that promotes hepcidin signaling in hepatocytes. A discussion of the clinical presentation of IRIDA, the molecular genetics of this disorder, and recent studies elucidating the underlying pathophysiology are presented.

  • Mutations in TMPRSS6 cause Iron-refractory Iron Deficiency Anemia (IRIDA).
    Nature genetics, 2008
    Co-Authors: Karin E. Finberg, Matthew M. Heeney, Dean R. Campagna, Yesim Aydinok, Howard A. Pearson, Kip R. Hartman, Mary M. Mayo, Stewart M. Samuel, John J. Strouse, Kyriacos Markianos
    Abstract:

    Iron Deficiency is usually attributed to chronic blood loss or inadequate dietary intake. Here, we show that Iron Deficiency Anemia refractory to oral Iron therapy can be caused by germline mutations in TMPRSS6, which encodes a type II transmembrane serine protease produced by the liver that regulates the expression of the systemic Iron regulatory hormone hepcidin. These findings demonstrate that TMPRSS6 is essential for normal systemic Iron homeostasis in humans.

Robert D Baker - One of the best experts on this subject based on the ideXlab platform.

Elzbieta Packozuchowska - One of the best experts on this subject based on the ideXlab platform.

  • soluble transferrin receptor and soluble transferrin receptor log ferritin index in diagnosis of Iron Deficiency Anemia in pediatric inflammatory bowel disease
    Digestive and Liver Disease, 2019
    Co-Authors: Paulina Krawiec, Elzbieta Packozuchowska
    Abstract:

    Abstract Background There is no single reliable marker of Iron homeostasis in inflammatory bowel disease. Aims To determine diagnostic usefulness of soluble transferrin receptor and soluble transferrin receptor/log ferritin index in Iron Deficiency Anemia in children with inflammatory bowel disease. Methods We assessed soluble transferrin receptor in serum and calculated soluble transferrin receptor/log ferritin index in 75 children with inflammatory bowel disease. Diagnostic ability to identify Iron Deficiency Anemia was examined by receiver operating characteristic analysis. Results Study group comprised 27 cases of Iron Deficiency Anemia, 6 Anemia of chronic disease with Iron Deficiency, 5 Anemia of chronic disease. Soluble transferrin receptor was significantly increased in children with Iron Deficiency Anemia (median: 1.63 μg/ml) compared to non-anemic children (median: 1.02 μg/ml). Soluble transferrin receptor/log ferritin index was significantly higher in Iron Deficiency Anemia (median: 1.76) than in Anemia of chronic disease (median: 0.55), Anemia of chronic disease with Iron Deficiency (median: 0.68) or patients without Anemia (median: 0.72). Soluble transferrin receptor and its index were not correlated with disease activity or inflammatory markers. Diagnostic power for soluble transferrin receptor/log ferritin index (0.864) was superior to soluble transferrin receptor (0.768) in Iron Deficiency Anemia recognition. Conclusion Soluble transferrin receptor/log ferritin index has better diagnostic utility than soluble transferrin receptor for Iron Deficiency Anemia detection in pediatric inflammatory bowel disease.

Matthew M. Heeney - One of the best experts on this subject based on the ideXlab platform.

  • Iron refractory Iron Deficiency Anemia irida
    Hematology-oncology Clinics of North America, 2014
    Co-Authors: Matthew M. Heeney, Karin E. Finberg
    Abstract:

    Iron Deficiency Anemia is a common global problem whose etiology is typically attributed to acquired inadequate dietary intake and/or chronic blood loss. However, in several kindreds multiple family members are affected with Iron Deficiency Anemia that is unresponsive to oral Iron supplementation and only partially responsive to parenteral Iron therapy. The discovery that many of these cases harbor mutations in the TMPRSS6 gene led to the recognition that they represent a single clinical entity: Iron-refractory Iron Deficiency Anemia (IRIDA). This article reviews clinical features of IRIDA, recent genetic studies, and insights this disorder provides into the regulation of systemic Iron homeostasis.

  • Mutations in TMPRSS6 cause Iron-refractory Iron Deficiency Anemia (IRIDA).
    Nature genetics, 2008
    Co-Authors: Karin E. Finberg, Matthew M. Heeney, Dean R. Campagna, Yesim Aydinok, Howard A. Pearson, Kip R. Hartman, Mary M. Mayo, Stewart M. Samuel, John J. Strouse, Kyriacos Markianos
    Abstract:

    Iron Deficiency is usually attributed to chronic blood loss or inadequate dietary intake. Here, we show that Iron Deficiency Anemia refractory to oral Iron therapy can be caused by germline mutations in TMPRSS6, which encodes a type II transmembrane serine protease produced by the liver that regulates the expression of the systemic Iron regulatory hormone hepcidin. These findings demonstrate that TMPRSS6 is essential for normal systemic Iron homeostasis in humans.