Results 71 to 80 of about 511,787 (144)

Case Report: A Previously Healthy Young Woman With Lethal, Unremitting Metabolic Acidosis: Could a Novel Variant in ALAS2 Be the Culprit?

Case Reports in Pathology, Volume 2026, Issue 1, 2026.
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 ...
Greg Brown, Stephen Brown, Suraiya Saleem   +2 more
wiley   +1 more source

Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia—a family study

Frontiers in Medicine
X-linked sideroblastic anemia (XLSA) (MIM 300752) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors.
Salam Al kindi, Salam Al kindi, Altaf Al-Mamari, Shoaib Al-Zadjali, Mohamed Al-Rawahi, Ali Al Madhani, Anil V. Pathare   +6 more
doaj   +1 more source

Removal of Toxic Metabolites—Chelation: Manganese Disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Manganese (Mn) overload is a characteristic of multiple disease entities, from acquired manganism upon environmental or occupational overexposure, to end‐stage liver disease and certain genetic disorders. The latter include hypermanganesaemia with dystonia 1 and 2 caused by pathogenic variants in the genes encoding the Mn transporters SLC30A10
Hendrik Vogt, George E. Kostakis, Rupert Purchase, John Spencer, Karin Tuschl   +4 more
wiley   +1 more source

Comprehensive Pan‐Cancer Analysis of TRNT1 as a Potential Biomarker for Breast Cancer

Journal of Cellular and Molecular Medicine, Volume 29, Issue 18, September 2025.
ABSTRACT TRNT1, an RNA nucleotide transferase, plays a critical role in cellular processes and may be involved in cancer. However, its role in cancer has not been fully explored. This study aims to explore the potential significance of TRNT1 in cancer, particularly in breast cancer (BC) progression and prognosis.
Xinwei Li, Yue Meng, Bing Gu
wiley   +1 more source

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

Scientific Reports
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.
Daniel Jové-Solavera, Marta Rámila, Xènia Ferrer-Cortés, Mireia Olivella, Veronica Venturi, Marta Morado, Ines Hernández-Rodríguez, Aneal Khan, Santiago Pérez-Montero, Cristian Tornador, Ulrich Germing, Norbert Gattermann, Mayka Sanchez   +12 more
doaj   +1 more source

Beta-thalassemia

Orphanet Journal of Rare Diseases, 2010
Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta chains of hemoglobin resulting in variable phenotypes ranging from severe anemia to clinically asymptomatic individuals.
Origa Raffaella, Galanello Renzo
doaj   +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, Çalışkan, Ümran, Yüksekkaya, Hasan   +2 more
core   +1 more source

Congenital sideroblastic anemia in a female [PDF]

American Journal of Hematology, 2018
Sophie, Hanina, Barbara J, Bain, Barnaby, Clark, D Mark, Layton   +3 more
openaire   +2 more sources

Clinico-Pathological Features and Outcomes in Patients with Congenital Sideroblastic Anemias

Blood, 2015
Abstract Background: Ring sideroblasts (RS) are erythroid precursors with perinuclear mitochondrial iron accumulation seen in clonal disorders, such as myelodysplastic syndromes (MDS), and non-clonal conditions, including copper deficiency, lead poisoning, and congenital sideroblastic anemias (CSAs).
Leah Ann Schmelkin, Matthew T Howard, David P. Steensma, Mark D. Fleming, Vilmarie Rodriguez, Shakila Khan, Naseema Gangat, Alexandra Wolanskyj, Mrinal M Patnaik   +8 more
openaire   +1 more source

Central Nervous System Recurrence in a Patient Treated for Acute Promyelocytic Leukemia, Resulting in Sideroblastic Anemia: A Case Report

, 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, Nawaz, Haroon, Choudhry, Ayesha   +2 more
core   +1 more source