Results 41 to 50 of about 2,906 (149)

Congenital sideroblastic anemia: A report of two cases

Indian Journal of Pathology and Microbiology, 2009
Sideroblastic anemia, comprising of acquired and congenital forms, is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia is a rare condition which is mostly X-linked,
Gupta Sanjeev, Rao Seema, Kar Rakhee, Tyagi Seema, Pati Hara   +4 more
doaj  

Understanding Sideroblastic Anemia: An Overview of Genetics, Epidemiology, Pathophysiology and Current Therapeutic Options

Journal of Blood Medicine, 2020
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  

Congenital sideroblastic anemia in a child with biliary atresia: An association?

Pediatric Hematology Oncology Journal, 2023
Background: Congenital sideroblastic anemias (CSAs) are a rare inherited group of anemias. They are usually syndromic with neuromuscular and metabolic phenotypes.
Ashish S. Patil, Nalla Anuraag Reddy, Harsha Prasada Lashkari   +2 more
doaj   +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

Risk of hypertensive disorders in pregnancies with non‐immune hydrops fetalis and single fetal effusions

Pregnancy, Volume 1, Issue 4, July 2025.
Abstract Introduction Hydrops fetalis carries high risks of morbidity and mortality for the fetus, as well as obstetric risks such as hypertensive disorders, or mirror syndrome, for the pregnant person. We aimed to characterize the prevalence and types of hypertensive disorders diagnosed in pregnancies with non‐immune hydrops fetalis and single ...
Natalie B. Gulrajani, Diana C. Robles, Juan M. Gonzalez, Mary E. Norton, Teresa N. Sparks   +4 more
wiley   +1 more source

Real‐world insights from a cohort of approximately 2000 individuals who were analysed using a freely available next‐generation sequencing anaemia screening programme

British Journal of Haematology, Volume 206, Issue 6, Page 1853-1856, June 2025.
Data from a large cohort of individuals referred for NGS testing evaluate the utility of next‐generation sequencing in clinical practice for diagnosing hereditary haemolytic anaemias.
Jorune Balciuniene, Saliha Yilmaz, Satheesh Chonat, Rachael F. Grace, Gerald A. Soff, Yaddanapudi Ravindranath, Bertil Glader, Paola Bianchi, Bryan McGee, Archana M. Agarwal, Geetha Puthenveetil   +10 more
wiley   +1 more source

An X‐Linked Ataxia Syndrome in a Family with Hearing Loss Associated with a Novel Variant in the BCAP31 Gene

Movement Disorders, Volume 40, Issue 4, Page 672-682, April 2025.
Abstract Objective Pathogenic variants in B‐cell receptor‐associated protein (BCAP31) are associated with X‐linked, deafness, dystonia and cerebral hypomyelination (DDCH) syndrome. DDCH is congenital and non‐progressive, featuring severe intellectual disability (ID), variable dysmorphism, and sometimes associated with shortened survival. BCAP31 encodes
Martin Paucar, Tianyi Li, Åsa Bergendal, Irina Savitcheva, Kaveh Pourhamidi, José M. Laffita‐Mesa, Ann Nordgren, Martin Engvall, Per Uhlén, Kristina Lagerstedt‐Robinson, Per Svenningsson   +10 more
wiley   +1 more source

SOD2 deficient erythroid cells up-regulate transferrin receptor and down-regulate mitochondrial biogenesis and metabolism. [PDF]

PLoS ONE, 2011
Mice irradiated and reconstituted with hematopoietic cells lacking manganese superoxide dismutase (SOD2) show a persistent hemolytic anemia similar to human sideroblastic anemia (SA), including characteristic intra-mitochondrial iron deposition.
Florent M Martin, Xiuling Xu, Katharina von Löhneysen, Timothy J Gilmartin, Jeffrey S Friedman   +4 more
doaj   +1 more source

Prospective Study to Assess Long‐Term Outcomes of Chelator‐Based Treatment With Trientine Dihydrochloride in Patients With Wilson Disease

JGH Open, Volume 9, Issue 3, March 2025.
ABSTRACT Background and Aims Wilson disease is an inherited disorder of copper metabolism affecting mainly the liver and brain. Trientine dihydrochloride (TETA‐2HCl) is approved for the treatment of Wilson disease in patients (≥ 5 years) intolerant to D‐penicillamine therapy.
Isabelle Mohr, Carlot Kruse, Verena Aliane, Karl Heinz Weiss   +3 more
wiley   +1 more source

Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia

Clinical Case Reports, 2018
Key Clinical Message The case of an infant girl with severe congenital sideroblastic anemia associated with a novel molecular defect in mitochondrial transporter SLC25A38 is presented.
Min Hee Kim, Sanjay Shah, Sylvia S. Bottomley, Niketa C. Shah   +3 more
doaj   +1 more source