Results 11 to 20 of about 158,381 (194)

Acquired Sideroblastic Anemia: An exploratory Comparative Statistical Analysis Between Clonal and Non-clonal cases [PDF]

Mediterranean Journal of Hematology and Infectious Diseases, 2022
Sideroblastic anemia (SA) is a rare heterogenous group of inherited and acquired bone marrow disorders. We retrospectively studied the clinicopathologic characteristics, cytogenetic findings, and disease outcome of patients with acquired sideroblastic ...
Dina Sameh Soliman, Samah Kohla, Shehab Fareed, Susanna Akiki , Aliaa Amer, Ibrahim Ganwo, Prem Chandra, Halima El-Omri, Feryal Ibrahim   +8 more
doaj   +2 more sources

Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia. [PDF]

PLoS Genetics, 2016
Sideroblastic anemias are acquired or inherited anemias that result in a decreased ability to synthesize hemoglobin in red blood cells and result in the presence of iron deposits in the mitochondria of red blood cell precursors.
J Pedro Fernández-Murray, Sergey V Prykhozhij, J Noelia Dufay, Shelby L Steele, Daniel Gaston, Gheyath K Nasrallah, Andrew J Coombs, Robert S Liwski, Conrad V Fernandez, Jason N Berman, Christopher R McMaster   +10 more
doaj   +4 more sources

Dolutegravir‐induced acquired sideroblastic anemia in a HIV positive patient: A challenging hematologic complication

Clinical Case Reports, 2023
Key Clinical Message Dolutegravir, the most recent antiretroviral drug with high efficacy, good tolerability, infrequent drug–drug interactions, and a favorable safety profile has not been reported in current literature as a cause of acquired ...
Kiran Dhonju, Ashmita Gautam, Abhinav Dahal, Niraj Kumar Sharma, Divas Adhikari, Lina Devkota, Prabhat Adhikari, Sampurna Tuladhar, Bishnu Deep Pathak, Sabin Banmala   +9 more
doaj   +2 more sources

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2 [PDF]

Haematologica, 2018
YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating tyrosine to its cognate mt-tRNA ...
Lisa G. Riley, Matthew M. Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean R. Campagna, Ronghao Zhou, Gregory A. Hale, Lee M. Hilliard, Joel A. Kaplan, Janet L. Kwiatkowski, Colin A. Sieff, David P. Steensma, Alexander J. Rennings, Annet Simons, Nicolaas Schaap, Richard J. Roodenburg, Tjitske Kleefstra, Leonor Arenillas, Josep Fita-Torró, Rasha Ahmed, Miguel Abboud, Elie Bechara, Roula Farah, Rienk Y. J. Tamminga, Sylvia S. Bottomley, Mayka Sanchez, Gerwin Huls, Dorine W. Swinkels, John Christodoulou, Mark D. Fleming   +29 more
doaj   +3 more sources

Ring sideroblasts and sideroblastic anemias

Haematologica, 2011
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia of varying severity and the presence of ring sideroblasts in the bone marrow ...
CAZZOLA, MARIO, INVERNIZZI, ROSANGELA
openaire   +4 more sources

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia [PDF]

Haematologica, 2011
Background Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome.
Caroline Kannengiesser, Mayka Sanchez, Marion Sweeney, Gilles Hetet, Briedgeen Kerr, Erica Moran, Jose L. Fuster Soler, Karim Maloum, Thomas Matthes, Caroline Oudot, Axelle Lascaux, Corinne Pondarré, Julian Sevilla Navarro, Sudharma Vidyatilake, Carole Beaumont, Bernard Grandchamp, Alison May   +16 more
doaj   +2 more sources

Loss of Function of mtHsp70 Chaperone Variants Leads to Mitochondrial Dysfunction in Congenital Sideroblastic Anemia

Frontiers in Cell and Developmental Biology, 2022
Congenital Sideroblastic Anemias (CSA) is a group of rare genetic disorders characterized by the abnormal accumulation of iron in erythrocyte precursors.
Vinaya Vishwanathan, Patrick D’Silva
doaj   +2 more sources

Congenital sideroblastic anemia: A report of two cases

Indian Journal of Pathology and Microbiology, 2009
Sideroblastic anemia, comprising of acquired and congenital forms, is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia is a rare condition which is mostly X-linked,
Gupta Sanjeev, Rao Seema, Kar Rakhee, Tyagi Seema, Pati Hara   +4 more
doaj   +1 more source

A Case Report of Inflammatory Myopathy and Sideroblastic Anemia

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 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
F Binesh, M Mortazavi Zadeh, R Fallah
doaj   +1 more source

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation [PDF]

Scientific Reports
X-linked sideroblastic anemia (XLSA) is a hereditary disorder affecting heme biosynthesis, caused by mutations in the ALAS2 gene, which encodes the erythroid-specific enzyme 5-aminolevulinate synthase.
Daniel Jové-Solavera, Marta Rámila, Xènia Ferrer-Cortés, Mireia Olivella, Veronica Venturi, Marta Morado, Ines Hernández-Rodríguez, Aneal Khan, Santiago Pérez-Montero, Cristian Tornador, Ulrich Germing, Norbert Gattermann, Mayka Sanchez   +12 more
doaj   +2 more sources