Results 51 to 60 of about 210,000 (180)
Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder
Frontiers in Pediatrics, 2023 The TRNT1 gene encodes tRNA nucleotidyltransferase 1, which catalyzes the addition of cytosine-cytosine-adenosine (CCA) to the ends of cytoplasmic and mitochondrial tRNAs.
Cui-Jie Wei +8 more
doaj +1 more source
European Journal of Haematology, Volume 117, Issue 5, Page 1369-1377, November 2026.ABSTRACT Objectives Genetic rare diseases (GRDs), including chronic granulomatous disease, familial hemophagocytic lymphohistiocytosis, and congenital neutropenia, often require hematopoietic stem cell transplantation (HSCT) as the only curative option.
Bo Kyung Kim +6 more
wiley +1 more source
A Novel Mutation of the Erythroid-Specific Aminolevulinate Synthase 2 Gene IN A Patient with Pyridoxine Responsive Sideroblastic Anemia and Deferasirox Responsive Hemochromatosis [PDF]
, 2009 A-14 years-old man, admitted to our clinic with weakness and paleness since one month. He has hepatosplenomegaly. Blood tests and peripheral blood smear showed anemia that severe hypochromic, microcytic anemia.
Tokgöz, Hüseyin +2 more
core +1 more source
Scientific Reports, 2022 Acquired sideroblastic anemia, characterized by bone marrow ring sideroblasts (RS), is predominantly associated with myelodysplastic syndrome (MDS). Although somatic mutations in splicing factor 3b subunit 1 (SF3B1), which is involved in the RNA splicing
Tetsuro Ochi +13 more
doaj +1 more source
British Journal of Haematology, Volume 209, Issue 4, Page 1469-1481, October 2026.Gene therapy is revolutionizing treatment paradigms for haemoglobinopathies, establishing a translational framework for disorders that impact red blood cell development. In their paper, Joshi et al. describe the preclinical and early clinical landscape of gene therapies for non‐haemoglobinopathy erythroid disorders and highlight common thematic ...
Gaurav Joshi +3 more
wiley +1 more source
, 2022 BACKGROUND Previous cases that have been stated in this article have displayed that around 1% to 7% of patients that have been treated with chemotherapy for acute promyelocytic leukemia developed myelodysplastic syndrome or acute myeloid leukemia.
Morse, William J +2 more
core +1 more source
Severe Macrocytic Anemia Associated With a Novel ALAS2 Mutation: A Case Report and Literature Review
Clinical Case Reports, Volume 14, Issue 9, September 2026.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.
Haodong Cai +5 more
wiley +1 more source
Biology of sideroblastic anemia.
[Rinsho ketsueki] The Japanese journal of clinical hematology, 2017 Sideroblastic anemia is characterized by anemia with ring sideroblasts produced by the bone marrow. Sideroblasts are formed by disutilization and deposit of iron in the mitochondoria. There are two forms of sideroblastic anemia: congenital and acquired.
openaire +2 more sources
HemaSphere, Volume 10, Issue 9, September 2026.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 ...
Alexandros Makis +2 more
wiley +1 more source
Etiological study of microcytic hypochromic anemia
Journal of Pathology of Nepal, 2016 Background: Microcytic hypochromic anemia is a distinct morphologic subtype of anemia with well- de ned etiology and treatment. The objective of this study was to determine the etiology and frequency of microcytic hypochromic anemia.
S Kafle, M Lakhey
doaj +1 more source