Results 21 to 30 of about 2,906 (149)

A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man

BMC Medical Genomics, 2021
Background X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2).
Jinbo Huang, Meili Ge, Yingqi Shao, Min Wang, Peng Jin, Jiali Huo, Xingxin Li, Jing Zhang, Neng Nie, Yizhou Zheng   +9 more
doaj   +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

Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review

Frontiers in Pediatrics, 2023
Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) is a serious autosomal recessive syndrome caused by biallelic mutations in cytosine–cytosine–adenosine tRNA nucleotidyltransferase 1 (TRNT1).
Xiangyuan Chen, Fang Fu, Xiaolan Mo, Suyun Cheng, Huasong Zeng   +4 more
doaj   +1 more source

Three-generation female cohort with macrocytic anemia and iron overload. [PDF]

Am J Hematol
American Journal of Hematology, Volume 100, Issue 1, Page 133-138, January 2025.
Boucher AA, Dayton VJ, Pratt AR, Nassar NN, Elgammal Y, Kalfa TA.   +5 more
europepmc   +2 more sources

When Ring Sideroblasts on Bone Marrow Smears Are Inconsistent with the Diagnosis of Myelodysplastic Neoplasms

Diagnostics, 2022
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, Franck Genevieve, Emmanuelle Rault, Odile Fenneteau, Jean-François Lesesve   +4 more
doaj   +1 more source

Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features

SAGE Open Medical Case Reports, 2019
This is a 40-year-old woman with sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay syndrome, who has genital and extragenital lichen sclerosus on the abdomen and the upper back that have become erythematous and ...
Abdulhadi Jfri, Therese El-Helou, Kevin A. Watters, Annie Bélisle, Ivan V. Litvinov, Elena Netchiporouk   +5 more
doaj   +1 more source

Missense SLC25A38 variations play an important role in autosomal recessive inherited sideroblastic anemia

Haematologica, 2011
Background Congenital sideroblastic anemias are rare disorders with several genetic causes; they are characterized by erythroblast mitochondrial iron overload, differ greatly in severity and some occur within a syndrome.
Caroline Kannengiesser, Mayka Sanchez, Marion Sweeney, Gilles Hetet, Briedgeen Kerr, Erica Moran, Jose L. Fuster Soler, Karim Maloum, Thomas Matthes, Caroline Oudot, Axelle Lascaux, Corinne Pondarré, Julian Sevilla Navarro, Sudharma Vidyatilake, Carole Beaumont, Bernard Grandchamp, Alison May   +16 more
doaj   +1 more source

Identification of a novel erythroid-specific enhancer for the ALAS2 gene and its loss-of-function mutation which is associated with congenital sideroblastic anemia

Haematologica, 2014
Erythroid-specific 5-aminolevulinate synthase (ALAS2) is the rate-limiting enzyme for heme biosynthesis in erythroid cells, and a missense mutation of the ALAS2 gene is associated with congenital sideroblastic anemia.
Kiriko Kaneko, Kazumichi Furuyama, Tohru Fujiwara, Ryoji Kobayashi, Hiroyuki Ishida, Hideo Harigae, Shigeki Shibahara   +6 more
doaj   +1 more source

Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up

Molecular Genetics and Metabolism Reports, 2019
Mitochondrial myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1) is a rare disease caused by biallelic pathogenic variants in the PUS1 gene. There are eleven MLASA1 patients reported worldwide with the majority of the patients originating from
Jeremy Woods, Stephen Cederbaum
doaj   +1 more source

Zinc‐induced copper deficiency, sideroblastic anemia, and neutropenia: A perplexing facet of zinc excess

Clinical Case Reports, 2020
Hypocupremia due to zinc products can cause sideroblastic anemia and neutropenia and mimics other serious hematological disorders. Early consideration of the copper deficiency and a thorough clinical history can prevent unnecessary interventions.
Ahsan Wahab, Kamran Mushtaq, Samuel G. Borak, Naresh Bellam   +3 more
doaj   +1 more source