Results 71 to 80 of about 1,160,233 (174)

Luspatercept Enhances Hemoglobin Levels in a Chinese Boy With Congenital Sideroblastic Anemia: A Case Report [PDF]

BACKGROUND: Congenital sideroblastic anemia (CSA) is a rare and heterogeneous group of genetic disorders. Conventional treatment include pyridoxine (vitamin B6) and allogeneic hematopoietic stem cell transplantation (allo-HSCT), and can alleviate anemia ...
Zhou, Kang, Zhao, Xin, Zhang, Li, Jing, Li-Ping, Zhang, Feng-Kui, Yang, Yang, Ye, Lei, Li, Yuan, Xiong, You-Zhen, Fan, Hui-Hui, Li, Jian-Ping, Peng, Guang-Xin, Yang, Wen-Rui   +12 more
core   +1 more source

A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA) syndrome

, 2011
A YARS2 mutation is a novel cause of mitochondrial myopathy lactic acidosis and sideroblastic anemia (MLASA ...
Peter Hickey (3484085), Richard Giegé (28490), Alison Compton (13492513), Mike Ryan (19213375), David Thorburn (13492525), Matthew McKenzie (13084017), John Christodoulou⁎ (19213378), Joëlle Rudinger-Thirion (807041), Lisa Riley (11328381), Melanie Bahlo (54258), Sandra Cooper (3486899)   +10 more
core  

Diagnosis and treatment of sideroblastic anemias: from defective heme synthesis to abnormal RNA splicing

, 2015
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by the presence of ring sideroblasts in the bone marrow. X-linked sideroblastic anemia (XLSA) is caused by germline mutations in ALAS2. Hemizygous males
CAZZOLA, MARIO, MALCOVATI, LUCA
core   +1 more source

Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia

, 2003
The sideroblastic anemias are characterized by ring sideroblasts, that is, red cell precursors with mitochondrial iron accumulation. We therefore studied the expression of mitochondrial ferritin (MtF) in these conditions.
TRAVAGLINO E, BIASIOTTO, Giorgio, AROSIO, Paolo, CAZZOLA M, CORSI B, DRYSDALE J, INVERNIZZI R, BERGAMASCHI G, LEVI S, ROLANDI V   +9 more
core   +2 more sources

Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant)

, 2020
Biallelic loss-of-function variants in the TRNT1 gene have been associated with a mitochondrial cytopathy impairing neuronal cell development and heme synthesis, named SIFD.
Rigante D, Giorgio V, Tornesello A, Zampino G, Leoni C, Onesimo R   +5 more
core   +1 more source

A Case Report of Inflammatory Myopathy and Sideroblastic Anemia

, 2007
Mitochondrial myopathy, lactic acidosis, and siderobastic anemia (MLA SA) syndrome is one of the newly reported mitochondrial diseases, seven cases of which have been reported. We report a child with inflammatory myopathy, sideroblastic anemia and lactic
M Mortazavi Zadeh, R Fallah, F Binesh
core  

Non syndromic childhood onset congenital sideroblastic anemia: A report of 13 patients identified with an ALAS2 or SLC25A38 mutation.

, 2017
The most frequent germline mutations responsible for non syndromic congenital sideroblastic anemia are identified in ALAS2 and SLC25A38 genes. Iron overload is a key issue and optimal chelation therapy should be used to limit its adverse effects on the ...
Karim Maloum, Kannengiesser, Caroline, Christiane Vermylen, Fouquet, Cyrielle, Leblanc, Thierry, Nadja Jäkel, Caroline Kannengiesser, Maloum, Karim, Cyrielle Fouquet, Jäkel, Nadja, Le Rouzic, Marie-Amelyne, Marie-Amelyne Le Rouzic, Guichard, Jean-François, Patrick Lutz, Fanny Fouyssac, Perel, Yves, Yves Perel, Vannier, Jean-Pierre, Fouyssac, Fanny, Lutz, Patrick, Mohamed Touati, Touati, Mohamed, Jean-Pierre Vannier, Fabienne Toutain, Manceau, Hana, Toutain, Fabienne, Vermylen, Christiane, Thierry Leblanc, Jean-François Guichard, Hana Manceau   +29 more
core   +1 more source

Peripheral Blood and Bone Marrow Findings in Chronic Alcoholics with Special Reference to Acquired Sideroblastic Anemia. [PDF]

Indian J Hematol Blood Transfus, 2020
Mangla G, Garg N, Bansal D, Kotru M, Sikka M.   +4 more
europepmc   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source

Different pathophysiological mechanisms of intramitochondrial iron accumulation in acquired and congenital sideroblastic anemia caused by mitochondrial DNA deletion

, 2006
Sideroblastic anemias (SA) are characterized by iron accumulation in the mitochondria of erythroblasts. Although we have evidence of mitochondrial gene alterations in sporadic congenital cases, the origin of acquired forms [refractory anemia with ring ...
Xaidara, A, Trachsel, Hedwige, Darbellay, Régis, Rideau, Alexandra, Beris, Photis, Matthes, Thomas, Costaridou, S, Rustin, Pierre, Darbellay R, Matthes T, Beris P, Costaridou S, Rustin P, Trachsel H, Xaidara A, Rideau A   +15 more
core   +1 more source