Results 31 to 40 of about 3,458 (193)

Correlation of MLASA2 Clinical Phenotype and Survival with Mt-TyrRS Protein Damage: Linking Systematic Review, Meta-Analysis and 3D Hotspot Mapping. [PDF]

Curr Issues Mol Biol
Myopathy, Lactic Acidosis, and Sideroblastic Anemia type 2 (MLASA2) is a rare mitochondrial disorder caused by pathogenic variants (PVs) in the YARS2 gene (which encodes the Mt-TyrRS protein.
Villafan-Bernal JR, Martínez-Hernández A, García-Ortiz H, Contreras-Cubas C, Guerrero-Contreras I, Frías-Cabrera JL, Centeno-Cruz F, Morales Rivera MI, Hernández JR, Carnevale A, Barajas-Olmos F, Orozco L.   +11 more
europepmc   +2 more sources

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

A rare case of isoniazid induced sideroblastic anemia

, 2023
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, Hari, Arjun B., Chawla, Kunal, Dessai, Rishikesh   +3 more
core   +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

Sideroblastic Anemia

Kaur A, Chhabra A.
europepmc   +3 more sources

The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation. [PDF]

Sci Rep
X-linked sideroblastic anemia (XLSA) is a hereditary disorder affecting heme biosynthesis, caused by mutations in the ALAS2 gene, which encodes the erythroid-specific enzyme 5-aminolevulinate synthase.
Jové-Solavera D, Rámila M, Ferrer-Cortés X, Olivella M, Venturi V, Morado M, Hernández-Rodríguez I, Khan A, Pérez-Montero S, Tornador C, Germing U, Gattermann N, Sanchez M.   +12 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

A 9-year-old child presenting with anemia accompanied by abnormal red blood cell morphology. [PDF]

Pract Lab Med
Cases of anemia presenting with abnormal erythrocyte morphology often pose diagnostic challenges, particularly in patients with refractory anemia. Here, we present the case of a 9-year-old male patient under investigation for anemia, who had a history of
Qin H, He Y, Xie Z.
europepmc   +2 more sources

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