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 …

Hereditary sideroblastic anemia: pathophysiology and gene mutations

H Harigae, K Furuyama - International journal of hematology, 2010 - Springer
Sideroblastic anemia is characterized by anemia with the emergence of ring sideroblasts in
the bone marrow. Ring sideroblasts are erythroblasts characterized by iron accumulation in …

Inherited disorders of iron metabolism

C Camaschella, E Poggiali - Current opinion in pediatrics, 2011 - journals.lww.com
Inherited disorders of iron metabolism : Current Opinion in Pediatrics Inherited disorders of iron
metabolism : Current Opinion in Pediatrics Log in or Register Subscribe to journalSubscribe Get …

Disorders of iron metabolism. Part II: iron deficiency and iron overload

M Muñoz, JA García-Erce, ÁF Remacha - Journal of clinical pathology, 2011 - jcp.bmj.com
Main disorders of iron metabolism Increased iron requirements, limited external supply, and
increased blood loss may lead to iron deficiency (ID) and iron deficiency anaemia. In chronic …

Congenital sideroblastic anemias.

SS Bottomley - Current hematology reports, 2006 - europepmc.org
Congenital forms of sideroblastic anemia constitute a subset of uncommon disorders within
the wider spectrum of sideroblastic anemias, all of which are diagnosed by the presence of …

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] The evaluation of iron deficiency and iron overload

N Gattermann, MU Muckenthaler… - Deutsches Ärzteblatt …, 2021 - ncbi.nlm.nih.gov
Background In the western world, 10–15% of women of child-bearing age suffer from iron-
deficiency anemia. Iron overload due to chronic treatment with blood transfusions or …

The molecular genetics of sideroblastic anemia

S Ducamp, MD Fleming - Blood, The Journal of the American …, 2019 - ashpublications.org
The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow
disorders defined by pathological iron accumulation in the mitochondria of erythroid …

Disorders of iron metabolism. Part 1: molecular basis of iron homoeostasis

M Munoz, JA García-Erce, ÁF Remacha - Journal of clinical pathology, 2011 - jcp.bmj.com
Iron functions Iron is an essential micronutrient, as it is required for satisfactory erythropoietic
function, oxidative metabolism and cellular immune response. Iron physiology Absorption of …

Pathophysiology and genetic mutations in congenital sideroblastic anemia

T Fujiwara, H Harigae - Pediatrics International, 2013 - Wiley Online Library
Sideroblastic anemias are heterogeneous congenital and acquired disorders characterized
by anemia and the presence of ringed sideroblasts in the bone marrow. Congenital …