Results 81 to 90 of about 210,000 (180)

Onset of X-linked sideroblastic anemia in the fourth decade

Haematologica, 2004
We report the case of a 40-year female who manifested late onset, pyridoxine-refractory X-linked sideroblastic anemia, heterozygous for the first described frameshift ALAS2 mutation, CD506-507 (-C).
E Cortesao, J Vidan, J Pereira, P Goncalves, ML Ribeiro, G Tamagnini   +5 more
doaj  

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

Pyrazinamide‐induced sideroblastic anemia [PDF]

American Journal of Hematology, 2011
Colucci, Giuseppe, Silzle, Tobias, Solenthaler, Max   +2 more
openaire   +4 more sources

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  

A 9-year-old child presenting with anemia accompanied by abnormal red blood cell morphology

Practical Laboratory Medicine
Cases of anemia presenting with abnormal erythrocyte morphology often pose diagnostic challenges, particularly in patients with refractory anemia. Here, we present the case of a 9-year-old male patient under investigation for anemia, who had a history of
Huijun Qin, Yuan He, Zaixiang Xie
doaj   +1 more source

X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation

, 2012
: X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. The genetic defect has been identified as a mutation in the ABCB7 gene at Xq12-q13.
Vermeersch, Pieter, Marc D’Hooghe, D' Hooghe, Marc, Mortier, Geert, Pieter Vermeersch, Geert Mortier, Dominik Selleslag, D'Hooghe, Marc, Bekri, Soumeya, Rudy Van Coster, Van Coster, Rudy, Selleslag, Dominik, Soumeya Bekri, Johan Billiet, Billiet, Johan   +14 more
core   +1 more source

Abnormal Iron Incorporation, Survival, Protoporphyrin Content and Fluorescence of One Red Cell Population in Preleukemic Sideroblastic Anemia

The dimorphic blood picture in sideroblastic anemia suggests the coexistence of at least two types of erythrocyte, the populations with the smaller RBCs being responsible for the crucial abnormality, namely the impairment of iron incorporation into ...
Riedler, Georg F., Straub, P. Werner
core   +1 more source

A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

, 2013
Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and
Marques, Laura, Major-Cook, N., Kannengiesser, Caroline, Hughes, Stephen, Klaassen, R. J., Bottomley, Sylvia S, Wiseman, D. H., Thuret, Isabelle, Giardina, P. J., Thompson, Alexis A, Heeney, Matthew M, Marques, L., Bonney, D. K., Chakraborty, P., Kannengiesser, C., Klaassen, Robert J, Chakraborty, Pranesh, Fleming, M. D., Thompson, A. A., Bonney, Denise K, Wiseman, Daniel H; id_orcid, Wynn, R. F., Fleming, Mark D, Giardina, Patricia J, May, Alison, Geraghty, Michael T, Powell, Colin, Heeney, M. M., Jolles, Stephen, Connor, Philip, Bottomley, S. S., Wynn, Robert F, Major-Cook, Nathalie, Hughes, S., Geraghty, M. T., Thuret, I.   +35 more
core   +1 more source

Thiamine– Responsive Megaloblastic Anemia Syndrome

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2009
Thiamine Responsive megaloblastic anemia in DIDMOA (Wolfram) syndrome has an autosomal- recessive mode of inheritance . Megaloblastic anemia and sideroblastic anemia is accompanied by diabetes insipidus (DI), diabetes mellitus (DM) ,optic atrophy (OA ...
F Motavaselian, F Nourani, Kh Dehghani, M Kheirandish, AH Jafari, A Hashemi   +5 more
doaj  

Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping

Current Issues in Molecular Biology
Myopathy, Lactic Acidosis, and Sideroblastic Anemia type 2 (MLASA2) is a rare mitochondrial disorder caused by pathogenic variants (PVs) in the YARS2 gene (which encodes the Mt-TyrRS protein.
José Rafael Villafan-Bernal, Angélica Martínez-Hernández, Humberto García-Ortiz, Cecilia Contreras-Cubas, Israel Guerrero-Contreras, José Luis Frías-Cabrera, Federico Centeno-Cruz, Monserrat Ivonne Morales Rivera, Jhonatan Rosas Hernández, Alessandra Carnevale, Francisco Barajas-Olmos, Lorena Orozco   +11 more
doaj   +1 more source