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 …

The second transferrin receptor regulates red blood cell production in mice

A Nai, MR Lidonnici, M Rausa… - Blood, The Journal …, 2015 - ashpublications.org
Abstract Transferrin receptor 2 (TFR2) contributes to hepcidin regulation in the liver and
associates with erythropoietin receptor in erythroid cells. Nevertheless, TFR2 mutations …

Hematopoietic deletion of transferrin receptor 2 in mice leads to a block in erythroid differentiation during iron‐deficient anemia

G Rishi, ES Secondes, DF Wallace… - American Journal of …, 2016 - Wiley Online Library
Iron metabolism and erythropoiesis are inherently interlinked physiological processes.
Regulation of iron metabolism is mediated by the iron‐regulatory hormone hepcidin …

TfR2 links iron metabolism and erythropoiesis

K Pantopoulos - Blood, The Journal of the American Society of …, 2015 - ashpublications.org
Erythroid cells consume the vast majority (70-80%) of body iron for synthesis of heme, the
oxygen-binding cofactor of hemoglobin (Hb). Under physiological conditions, plasma iron is …

[HTML][HTML] The erythroid function of transferrin receptor 2 revealed by Tmprss6 inactivation in different models of transferrin receptor 2 knockout mice

A Nai, RM Pellegrino, M Rausa, A Pagani… - …, 2014 - ncbi.nlm.nih.gov
Abstract Transferrin receptor 2 (TFR2) is a transmembrane glycoprotein expressed in the
liver and in the erythroid compartment, mutated in a form of hereditary hemochromatosis …

A mutation in the TMPRSS6 gene, encoding a transmembrane serine protease that suppresses hepcidin production, in familial iron deficiency anemia refractory to …

MA Melis, M Cau, R Congiu, G Sole, S Barella… - …, 2008 - haematologica.org
Background Hepcidin plays a key role in body iron metabolism by preventing the release of
iron from macrophages and intestinal cells. Defective hepcidin synthesis causes iron …

[PDF][PDF] Why do humans need two types of transferrin receptor? Lessons from a rare genetic disorder

C Camaschella - Haematologica, 2005 - haematologica.org
The notion that humans have two types of transferrin receptor is rather recent. The classical
transferrin receptor (TFR1) is a key molecule, essential for iron uptake through its …

The extrahepatic role of TFR2 in iron homeostasis

L Silvestri, A Nai, A Pagani… - Frontiers in …, 2014 - frontiersin.org
Transferrin receptor 2 (TFR2), a protein homologous to the cell iron importer TFR1, is
expressed in the liver and erythroid cells and is reported to bind diferric transferrin, although …

Extrahepatic deficiency of transferrin receptor 2 is associated with increased erythropoiesis independent of iron overload

AM Wortham, DC Goldman, J Chen… - Journal of Biological …, 2020 - ASBMB
Transferrin receptor 2 (TFR2) is a transmembrane protein expressed mainly in hepatocytes
and in developing erythroid cells and is an important focal point in systemic iron regulation …

[HTML][HTML] Early-onset haemochromatosis caused by a novel combination of TFR2 mutations (p. R396X/c. 1538-2 A> G) in a woman of Italian descent

V Gerolami, G Le Gac, L Mercier, M Nezri… - …, 2008 - haematologica.org
Haemochromatosis (HC) refers to a group of inherited disorders of iron metabolism
characterized by progressive iron accumulation in parenchymal cells. If not recognized and …