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Inherited microcytic anemias.
Hematology Am Soc Hematol Educ Program
December 2020
Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy; and.
Inherited microcytic anemias can be broadly classified into 3 subgroups: (1) defects in globin chains (hemoglobinopathies or thalassemias), (2) defects in heme synthesis, and (3) defects in iron availability or iron acquisition by the erythroid precursors. These conditions are characterized by a decreased availability of hemoglobin (Hb) components (globins, iron, and heme) that in turn causes a reduced Hb content in red cell precursors with subsequent delayed erythroid differentiation. Iron metabolism alterations remain central to the diagnosis of microcytic anemia, and, in general, the iron status has to be evaluated in cases of microcytosis.
View Article and Find Full Text PDFInherited iron overload disorders.
Transl Gastroenterol Hepatol
April 2020
Centre for Rare Diseases, Disorder of Iron Metabolism, ASST-Monza, S. Gerardo Hospital, Monza, Italy.
Hereditary iron overload includes several disorders characterized by iron accumulation in tissues, organs, or even single cells or subcellular compartments. They are determined by mutations in genes directly involved in hepcidin regulation, cellular iron uptake, management and export, iron transport and storage. Systemic forms are characterized by increased serum ferritin with or without high transferrin saturation, and with or without functional iron deficient anemia.
View Article and Find Full Text PDFInherited Disorders of Iron Overload.
Front Nutr
October 2018
Lady Davis Institute for Medical Research, Jewish General Hospital, Montreal, QC, Canada.
Dietary iron absorption and systemic iron traffic are tightly controlled by hepcidin, a liver-derived peptide hormone. Hepcidin inhibits iron entry into plasma by binding to and inactivating the iron exporter ferroportin in target cells, such as duodenal enterocytes and tissue macrophages. Hepcidin is induced in response to increased body iron stores to inhibit further iron absorption and prevent iron overload.
View Article and Find Full Text PDFTransferrin and transferrin receptors update.
Free Radic Biol Med
March 2019
Department of Hematology and Immunology, Kanazawa Medical University, 1-1 Daigaku, Uchinada-machi, Ishikawa-ken 920-0293, Japan. Electronic address:
In vertebrates, transferrin (Tf) safely delivers iron through circulation to cells. Tf-bound iron is incorporated through Tf receptor (TfR) 1-mediated endocytosis. TfR1 can mediate cellular uptake of both Tf and H-ferritin, an iron storage protein.
View Article and Find Full Text PDFCongenital Hypotransferrinemia, an Unusual Cause of Iron Deficiency Anemia: Report of Two Cases.
Indian J Hematol Blood Transfus
September 2017
Department of Haematology, AIIMS, New Delhi, India.
Hereditary hypotransferrinemia is a very rare cause of iron deficiency anemia in childhood characterized by microcytic hypochromic anemia refractory to iron therapy and concomitant iron overload. Regular plasma infusion to replace the deficient transferrin molecule is the therapeutic option. We report two cases; both presented with refractory anemia requiring blood transfusions and responded to monthly fresh frozen plasma replacement.
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