Results 181 to 190 of about 298,625 (226)

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

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   +2 more sources

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

A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay

American Journal of Medical Genetics. Part A, 2021
Sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD; MIM #616084) is an autosomal recessive disorder of mitochondrial and cytosolic tRNA processing caused by pathogenic, biallelic variants in TRNT1.
J. Odom, H. Amin, Charul Gijavanekar, S. Elsea, S. Kralik, J. Chinen, Yuezhen Lin, Amber M Yates, Elizabeth Mizerik, L. Potocki, F. Scaglia   +10 more
semanticscholar   +1 more source

A synonymous coding variant that alters ALAS2 splicing and causes X‐linked sideroblastic anemia

Pediatric Blood & Cancer, 2021
To the Editor: X-linkedsideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA). Approximately 70 different mutations have been described.
Jamie Oakley, D. Campagna, Liang Sun, S. Rockowitz, P. Śliż, J. Boudreaux, G. Woods, M. Fleming   +7 more
semanticscholar   +1 more source

Meme biosynthesis in sideroblastic anemia

International Journal of Biochemistry, 1980
Abstract The activities of δ-aminolevulinic acid synthase (ALA-S), δ-aminolevulinic acid dehydratase (ALA-D), uroporphyrinogen I synthase (Uro-I-S), uroporphyrinogen decarboxylase (Uro-DC) and heme synthase have been studied in peripheral red blood cells of 9 patients with hereditary sideroblastic anemia (HSA) and 8 patients with refractory ...
A V, Pasanen, M, Salmi, P, Vuopio, R, Tenhunen   +3 more
openaire   +2 more sources

Sideroblastic anemia and development of leukemia

Blut, 1981
In patients with refractory anemia it is important to count and classify the different sideroblasts (intermediate sideroblasts with more than six iron grains or ring sideroblasts), to study the cellularity of the bone marrow and disturbances in thrombo- and myelopoiesis, and to note previous exposure to mutagenic or other toxic agents.
R, Hast, P, Reizenstein
openaire   +2 more sources

Zinc abuse and sideroblastic anemia

American Journal of Hematology, 1993
AbstractWe report the case of a young woman who presented with anemia and leukopenia. A bone marrow aspirate, revealed a marked excess of ringed sideroblasts. A detailed dietary history disclosed excessive zinc intake. High serum zinc and low serum copper concentrations were confirmed.
J, Ramadurai, C, Shapiro, M, Kozloff, M, Telfer   +3 more
openaire   +2 more sources

Cytogenetic studies in sideroblastic anemia

Cancer, 1976
Cytogenetic studies were performed on bone marrow aspirates from seven patients with acquired sideroblastic anemia. In one male patient a 45,X cell line was present in each of three bone marrow aspirates. The remaining six patients had a normal chromosome complement. The abnormal stem line in the bone marrow may be unrelated to the hematologic disorder
M K, Jensen, M, Mikkelsen
openaire   +2 more sources

Refractory anemia with ring sideroblasts

Best Practice & Research Clinical Haematology, 2013
Refractory anemia with ring sideroblasts (RARS) is a subtype of myelodysplastic syndrome (MDS) characterized by 15% or more ring sideroblasts in the bone marrow according to the WHO classification. After Perls staining, ring sideroblasts are defined as erythroblasts in which there are 5 or more siderotic granules covering at least a third of the ...
MALCOVATI, LUCA, CAZZOLA, MARIO
openaire   +3 more sources