Characterization of new mutations in transferrin, DMT1 and SEC23B causing rare iron metabolism-related diseases; and the discovery of RACGAP1 as the gene …

L Romero Cortadellas - 2023 - repositori.uic.es
Iron is a biometal involved in many physiological processes that are essential for life. Iron
metabolism is a complex and tightly regulated process both at the systemic and cellular …

Iron Metabolism and Related Disorders

YZ Ginzburg, KE Finberg - Emery and Rimoin's Principles and Practice of …, 2021 - Elsevier
Iron is an essential element for numerous fundamental biological processes, including
erythropoiesis; however, in large quantities and when unbound, iron can be highly toxic to …

[HTML][HTML] Iron-refractory iron deficiency anemia

EY Keskin, İ Yenicesu - Turkish Journal of Hematology, 2015 - ncbi.nlm.nih.gov
Iron is essential for life because it is indispensable for several biological reactions, such as
oxygen transport, DNA synthesis, and cell proliferation. Over the past few years, our …

Rare causes of hereditary iron overload

P Ponka - Seminars in hematology, 2002 - Elsevier
Iron is a vitally important element in mammalian metabolism because of its unsurpassed
versatility as a biologic catalyst. However, when not appropriately shielded or when present …

[HTML][HTML] New Cases of Hypochromic Microcytic Anemia Due to Mutations in the SLC11A2 Gene and Functional Characterization of the G75R Mutation

L Romero-Cortadellas, G Hernández… - International journal of …, 2022 - mdpi.com
Divalent metal-iron transporter 1 (DMT1) is a mammalian iron transporter encoded by the
SLC11A2 gene. DMT1 has a vital role in iron homeostasis by mediating iron uptake in the …

Updates on clinical and laboratory aspects of hereditary dyserythropoietic anemias

R Russo, A Iolascon, I Andolfo, R Marra… - … Journal of Laboratory …, 2024 - Wiley Online Library
Hereditary dyserythropoietic anemias, or congenital dyserythropoietic anemias (CDAs), are
rare disorders disrupting normal erythroid lineage development, resulting in ineffective …

[HTML][HTML] S274: A novel subtype of anemia caused by mutations in TFRC gene

S Colucci, V Venturi, F Nicole, DJ Solavera… - …, 2022 - journals.lww.com
Background: Anemia affects~ 25% of the world population and is frequently caused by iron
deficiency as a consequence of malnutrition or inflammation. Only in rare cases anemia is …

Rare anemias due to genetic iron metabolism defects

P Brissot, DG Bernard, E Brissot, O Loréal… - … Research/Reviews in …, 2018 - Elsevier
Anemia is defined by a deficiency of hemoglobin, an iron-rich protein that binds oxygen in
the blood. It can be due to multiple causes, either acquired or genetic. Alterations of genes …

Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractory

AE Donker, CCM Schaap, VMJ Novotny… - American journal of …, 2016 - Wiley Online Library
TMPRSS6 variants that affect protein function result in impaired matriptase‐2 function and
consequently uninhibited hepcidin production, leading to iron refractory iron deficiency …

Genetic/metabolic effect of iron metabolism and rare anemias

C Camaschella - Thalassemia Reports, 2013 - mdpi.com
Advances in iron metabolism have allowed a novel classification of iron disorders and to
identify previously unknown diseases. These disorders include genetic iron overload …