Results 71 to 80 of about 3,469 (181)

X‐Linked Sideroblastic Anaemia Caused by Intronic ALAS2 Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report

eJHaem, Volume 6, Issue 3, June 2025.
ABSTRACT X‐linked sideroblastic anaemia (XLSA) is a rare hereditary disorder caused by mutations in the ALAS2 gene, essential for haem biosynthesis. We report two male siblings, the first of whom developed severe microcytic hypochromic anaemia requiring regular transfusions, iron chelation and an allogeneic bone marrow transplant, while his brother ...
James O'Connor, Niall Mannion, Caoimhe McKenna, Kerrie Sweeney, Aaron Niblock   +4 more
wiley   +1 more source

Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations [PDF]

, 2016
Mitochondrial myopathy with lactic acidosis and sideroblastic anemia (MLASA) is an oxidative phosphorylation disorder, with primary clinical manifestations of myopathic exercise intolerance and a macrocytic sideroblastic anemia.
Fix, DK, Fischel-Ghodsian, N, Patton, JR, Elkes, J, Lidov, HGW, Bykhovskaya, Y, Barlow, SC, Campagna, DR, Carson, JA, Hardee, JP, Schmidt, PJ, Mangum, JE, Altomare, D, Fleming, MD, Puppa, MJ, Sendamarai, AK   +15 more
core   +2 more sources

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

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.

, 2016
X-linked sideroblastic anemia (XLSA) is a disorder characterized by decreased heme synthesis and mitochondrial iron overload with ringed sideroblasts in bone marrow.
de la Iglesia Iñigo, Silvia, María‐Isabel Moreno‐Carralero, Manuel Méndez, Morán-Jiménez, María-José, Fernández-Jiménez, María-Cristina, Silvia de la Iglesia Iñigo, Marta Morado‐Arias, Moreno-Carralero, María-Isabel, María‐Cristina Fernández‐Jiménez, María‐José Morán‐Jiménez, Méndez, Manuel, Morado-Arias, Marta   +11 more
core   +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

Biallelic TRNT1 variants in a child with B cell immunodeficiency, periodic fever and developmental delay without sideroblastic anemia (SIFD variant)

, 2020
Biallelic loss-of-function variants in the TRNT1 gene have been associated with a mitochondrial cytopathy impairing neuronal cell development and heme synthesis, named SIFD.
Rigante D, Giorgio V, Tornesello A, Zampino G, Leoni C, Onesimo R   +5 more
core   +1 more source

Tandem combination of ASCT and CAR T‐cell therapy in highly refractory CNS lymphomas

British Journal of Haematology, Volume 207, Issue 5, Page 2178-2182, November 2025.
Lydia Montes, Sylvain Choquet, Madalina Uzunov, Véronique Morel, Marine Baron, Damien Roos‐Weil, Magalie Joris, Caroline Delette, Delphine Lebon, Nabih Azar, Carole Metz, Lucia Nichelli, Magali Le Garff‐Tavernier, Clémentine Boccon‐Gibod, Claire Lacan, Laetitia Souchet, Khê Hoang‐Xuan, Carole Soussain, Inès Boussen, Caroline Houillier   +19 more
wiley   +1 more source

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia

, 1995
The erythroid-specific isozyme of 5-aminolevulinate synthase (ALAS2), the first and ratelimiting enzyme of heme biosynthesis, is expressed concomitantly with the differentiation and maturation of the erythroid cell in order to accommodate generation of ...
Cox, T., Bishop, D., May, B., Bottomley, S., Cotter, P.   +4 more
core   +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

, 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

Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia

, 2003
The sideroblastic anemias are characterized by ring sideroblasts, that is, red cell precursors with mitochondrial iron accumulation. We therefore studied the expression of mitochondrial ferritin (MtF) in these conditions.
TRAVAGLINO E, BIASIOTTO, Giorgio, AROSIO, Paolo, CAZZOLA M, CORSI B, DRYSDALE J, INVERNIZZI R, BERGAMASCHI G, LEVI S, ROLANDI V   +9 more
core   +1 more source