Results 181 to 190 of about 324,192 (243)

Sideroblasts, Siderocytes, and Sideroblastic Anemia

New England Journal of Medicine, 1975
SMALL iron-containing granules, demonstrable by means of the Prussian blue reaction, have been recognized in erythrocytes and their precursors for at least 30 years.1 2 3 4 5 Only recently, through the use of electron microscopy,6 7 8 have two distinct series of iron-containing erythroid cells been distinguished: one in which the iron consists of ...
G E, Cartwright, A, Deiss
openaire   +4 more sources

Luspatercept as Potential Treatment for Congenital Sideroblastic Anemia.

New England Journal of Medicine, 2023
Ruben Van Dijck
semanticscholar   +3 more sources

Allogenic Hematopoietic Stem Cell Transplant in Iranian Patients With Congenital Sideroblastic Anemia: A Single-Center Experience.

Experimental and Clinical Transplantation, 2023
Congenital sideroblastic anemia is characterized by anemia and intramitochondrial iron accumulation in erythroid precursors that form ring sideroblasts. The most common recessive forms are caused by sequence variations in the ALAS2 and SLC25A38 genes. In
B. Shamsian, M. Jafari, H. Abolghasemi, P. Eshghi, M. Ehsani, E. Shahgholi, Maryam Kazemi Aghdam, Atbin Latifi, M. Jamee   +8 more
semanticscholar   +1 more source

Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation

Annals of Human Genetics, 2023
Introduction: Congenital sideroblastic anemias (CSAs) are a group of inherited bone‐marrow disorders manifesting with erythroid hyperplasia and ineffective erythropoiesis.
M. Salam, K. Salama, Yasmeen M. M. Selim, Mariam Saad, Rasha Rady, Salem Alawbathani, S. Schroeder, M. A. Elmonem, N. Elkhateeb   +8 more
semanticscholar   +1 more source

Myopathy with Lactic Acidosis and Sideroblastic Anemia Caused By a Novel PUS1mutation

Blood, 2023
Mutations in the mitochondrial aminoacyl tRNA synthetases (ARSs) are associated with various clinical phenotypes, including myopathy, lactic acidosis, and sideroblastic anemia (MLASA), which is a rare autosomal recessive disorder.
Y. Xiong, Wenrui Yang, H. Fan, Li Zhang, Xin Zhao, L. Jing, Fengkui Zhang   +6 more
semanticscholar   +1 more source

A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome

Pediatric Allergy, Immunology, and Pulmonology, 2022
Introduction: Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome is caused by biallelic TRNT1 mutations. TRNT1 gene encodes a CCA-adding tRNA nucleotidyl transferase enzyme. Mutant TRNT1 results in
Rabia Miray Kışla Ekinci, Aslıhan Zararsız, Gizem Urel Demir, Ozlem Anlas   +3 more
semanticscholar   +1 more source

HSPA9 frameshift and loss‐of‐function mutations in a patient manifesting syndromic sideroblastic anemia and congenital anomalies

Pediatric Blood & Cancer, 2022
To the Editor: Sideroblastic anemia is characterized by anemia, ringed sideroblasts in bone marrow, and ineffective hematopoiesis. Congenital sideroblastic anemia (CSA) is caused by germline mutations in the genes involved in heme synthesis, iron-sulfur (
A. Watanabe, T. Fujiwara, Atsuhiko Ohta, Y. Shimizu, Ryuhei Tanaka   +4 more
semanticscholar   +1 more source

X-linked sideroblastic anemia in females.

Blood
X-linked sideroblastic anemia (XLSA) in carrier females of ALAS2 mutations is not uncommon. We describe unique features and genotype/phenotype correlations in XLSA females and evaluate the contributions of X-chromosome skewing and clonal hematopoiesis ...
Sarah Ducamp, D. Campagna, A. Sendamarai, Paul Schmidt, Harrison K Tsai, M. Heeney, Sylvia S. Bottomley, Mark D. Fleming   +7 more
semanticscholar   +1 more source

Luspatercept for the treatment of congenital sideroblastic anemia: Two case reports.

Current Research in Translational Medicine
Congenital sideroblastic anemia (CSA) is a group of disorders caused by different genetic mutations that result in low iron utilization and ineffective erythropoiesis. Current treatments are limited, and some patients do not respond to vitamin B6 therapy.
Y. Shao, Lijie He, Shaoxue Ding, Rong Fu
semanticscholar   +1 more source