Results 11 to 20 of about 170,027 (191)

Sideroblastic anemia [PDF]

Journal of Pathology of Nepal, 2016
Sideroblastic anemias are a heterogenous group of disorders that have as a common feature with the presence of ringed sideroblasts in the marrow. We present a case of young female, nursing student who presented with increasing palpitation, fatigue and ...
P Bhandari, R Hamal, A Shrestha
doaj   +6 more sources

Drug-induced severe sideroblastic anemia following combined olanzapine and fluvoxamine therapy: a case report [PDF]

Frontiers in Psychiatry
Olanzapine and fluvoxamine are commonly used psychotropic medications for treating anxiety and depressive disorders, particularly in cases with psychotic symptoms or treatment-resistant presentations.
Xinru Zhang, Anan Zhang, Jinmei Zhang, Dandan Hu   +3 more
doaj   +4 more sources

Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study [PDF]

Frontiers in Medicine
X-linked sideroblastic anemia (XLSA) (MIM 300752) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors.
Salam Al kindi, Salam Al kindi, Altaf Al-Mamari, Shoaib Al-Zadjali, Mohamed Al-Rawahi, Ali Al Madhani, Anil V. Pathare   +6 more
doaj   +4 more sources

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

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

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

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   +3 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   +2 more sources

Ring sideroblasts and sideroblastic anemias

Haematologica, 2011
The sideroblastic anemias include both hereditary and acquired conditions. The two most common forms of congenital sideroblastic anemia, i.e. the X-linked form due to an ALAS2 mutation and the autosomal recessive form due to SLC25A38 mutations, have ...
CAZZOLA, MARIO, M. Cazzola, INVERNIZZI, ROSANGELA, R. Invernizzi   +3 more
core   +4 more sources

Expanding the spectrum of Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) syndrome: a case report with new clinical insights and novel genetic variant [PDF]

Frontiers in Immunology
Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fever and Developmental Delay (SIFD) is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the TRNT1 gene, encoding tRNA nucleotidyltransferase 1, an enzyme essential
Francesco Delle Cave, Ivan Taietti, Ivan Taietti, Annalisa Agostini, Francesca Compagno, Fabio Sirchia, Fabio Sirchia, Grazia Bossi, Daniela Montagna, Daniela Montagna, Amelia Licari, Amelia Licari, Patrizia Comoli, Patrizia Comoli, Tommaso Mina, Riccardo Castagnoli, Riccardo Castagnoli, Marco Zecca   +17 more
doaj   +2 more sources