Results 31 to 40 of about 324,192 (243)

Severe Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia with Mutations in SPTB and ALAS2 Genes

Journal of Clinical Medicine, 2023
We report a case of severe anemia caused by complex hereditary spherocytosis (HS) and X-linked sideroblastic anemia (XLSA) with two mutations in the spectrin beta (SPTB) and 5-aminolevulinic acid synthase (ALAS2) genes. The proband was a 16-year-old male
Jianying Zhou, Han Zhang, Yao Qin, Ting Liu   +3 more
semanticscholar   +1 more source

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   +1 more source

Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD)

Journal of Clinical Immunology, 2023
Purpose Sideroblastic anemia, immunodeficiency, periodic fevers, and developmental delay (SIFD) is an autosomal recessive syndrome caused by biallelic loss-of-function variant of tRNA nucleotidyl transferase 1 (TRNT1).
Y. Li, Meng-Ling Deng, T. Han, Wenxiu Mo, H. Mao   +4 more
semanticscholar   +1 more source

Sideroblastic Anemia

Kaur A, Chhabra A.
europepmc   +3 more sources

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia [PDF]

, 2017
NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the 'supernumerary' group of subunits, but proved to be absolutely essential for the assembly of an active complex I.
Bertini, Enrico, Bianchi, Marzia, Carrozzo, Rosalba, Christodoulou, John, Di Nottia, Michela, Diodato, Daria, Dionisi Vico, Carlo, Francisci, Silvia, Gelmetti, Vania, Guo, Yiran, Lucarelli, Barbarella, Martinelli, Diego, Montanari, Arianna, Niceta, Marcello, Piemonte, Fiorella, Riley, Lisa, Rizza, Teresa, Sorrentino, Francesco, Tartaglia, Marco, Torraco, Alessandra, Valente, Enza Maria, Verrigni, Daniela   +21 more
core   +2 more sources

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

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   +1 more source

Preleukemia: hematological disorders prior to onset of leukemia [PDF]

, 1975
Published data on Japanese leukemia patients with a preleukemic hematological disorder were assessed. The reexamined cases were from the "Japona Centra Revuo Medicina" reported during the period from 1952 to 1971.
Hiraki, Kiyoshi, Kitajima, Koichi, Mikochi, Hiroshi, Nakanishi, Toshio, Sakato, Junya, Takahashi, Isao   +5 more
core   +1 more source

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations [PDF]

, 2013
Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protein ...
Cleary, MA, Lindley, KJ, Rahman, S, Shahni, R, Sibson, KR, Wedatilake, Y   +5 more
core   +1 more source

A rare case of isoniazid induced sideroblastic anemia

International Journal of Research in Medical Sciences, 2023
Sideroblastic anemia is a rare cause of anemia. Most of it accounts for the genetic cause, while drug induced is still uncommon. Our patient, a 20 year old female, is a known case of right frontal tuberculoma on ATT presented with complaints of ...
Arjun Hari, K. Chawla, R. Dessai, Shipra Gulati   +3 more
semanticscholar   +1 more source

Pyridoxine Refractory Sideroblastic Anemia: Diagnosis and Misdiagnosis

Clinical Pediatric Hematology-Oncology, 2022
We report the case of a 7-year-old girl who was originally diagnosed at the age of 6 months with transfusion-dependent red cell aplasia based on a combination of severe anemia, reticulocytopenia and bone marrow findings. Since early infancy due to severe
Muhammad Matloob Alam, Abdulrhman Alathaibi, Ruwayd Adel Attar, Muhammad Kashif, Hamdan Saeed Al-Ghamdi, Sultan Abdulaziz Alharthi, Abdulmohsen Bokhary, Muteb Althomali   +7 more
doaj   +1 more source