Results 21 to 30 of about 1,160,233 (174)
Ghaith Abu-Zeinah, Maria T DeSancho Division of Hematology and Oncology, Department of Medicine, Weill Cornell Medicine, New York Presbyterian Hospital, New York, NY, USACorrespondence: Ghaith Abu-ZeinahWeill Cornell Medicine, New York Presbyterian ...
Abu-Zeinah G, DeSancho MT
doaj +2 more sources
Iron overload (RV) is a condition caused by excessive intake of iron, and in the absence of the specific mechanisms for its excretion - excessive accumulation in tissues and their subsequent lesion leading to functional organ failure [1].
M. V. Krasolnikova
doaj +2 more sources
A Case of Myelodysplastic Syndrome-Induced Acquired Sideroblastic Anemia. [PDF]
Hematological disorders are frequently encountered at the doctor's office and in the emergency room. Sideroblastic anemia, a rare hematological malady, is characterized by ring sideroblasts in the red blood cells due to accumulation of poorly transported and underutilized iron.
Osa-Andrews B +3 more
europepmc +2 more sources
Severe Macrocytic Anemia Associated With a Novel <i>ALAS2</i> Mutation: A Case Report and Literature Review. [PDF]
ABSTRACT X‐linked sideroblastic anemia (XLSA), caused by pathogenic variants in ALAS2, typically presents as microcytic anemia in males. However, heterozygous females occasionally exhibit an atypical macrocytic phenotype, often leading to diagnostic ambiguity and confusion with nutritional anemias or myelodysplastic syndromes.
Cai H +5 more
europepmc +2 more sources
Case Report: A Previously Healthy Young Woman With Lethal, Unremitting Metabolic Acidosis: Could a Novel Variant in <i>ALAS2</i> Be the Culprit? [PDF]
Background Heme synthesis is critical for several biological processes, including mitochondrial energy production and oxygen delivery via hemoglobin. The initial and rate‐limiting step in heme synthesis is the conjugation of glycine with succinyl‐CoA to form 5‐aminolevulinic acid (ALA), which is catalyzed by two closely related enzymes that are coded ...
Brown G, Brown S.
europepmc +2 more sources
Sideroblastic Anemia in a Young Woman Being Treated for Wilson Disease
D-penicillamine and zinc are both useful in the treatment of Wilson disease. Both drugs can cause pancytopenia by the direct toxic effect on the marrow or sideroblastic anemia caused by hyperzincemia-induced hypocupremia. Although serum copper levels are
Vivien Mak, Kate Leung, Wai-lim Yiu
doaj +1 more source
Ring sideroblasts are commonly seen in myelodysplastic neoplasms and are a key condition for identifying distinct entities of myelodysplastic neoplasms according to the WHO classification.
Sandrine Girard +4 more
doaj +1 more source
CRISPR/Cas9‐Mediated Correction of the SLC25A38 Mutation in a Patient With Sideroblastic Anemia [PDF]
In this study, the identity of fibroblast cells isolated from the patient was identified using several methods. Then, the sgRNA3‐pX459 plasmid together with ssODN was transfected into fibroblast cells with a transfection efficiency of 49.64%. Finally, the entry of ssODN donor into fibroblast cells was confirmed using PCR‐RFLP and PAGE methods. ABSTRACT
Yazdanparast S +4 more
europepmc +2 more sources
Inherited microcytic anemias due to disorders of iron and heme metabolism: An updated clinical review [PDF]
Abstract Microcytic anemia is among the most common hematological abnormalities in clinical practice and is usually attributable to iron deficiency, thalassemia traits, or anemia of inflammation. A small but clinically important subset of patients, however, has inherited disorders of iron metabolism or heme synthesis presenting with persistent ...
Makis A, Saougou I, Hatzimichael E.
europepmc +2 more sources
A rare case of isoniazid induced sideroblastic anemia [PDF]
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 ...
Gulati, Shipra +3 more
core +1 more source

