Results 51 to 60 of about 158,381 (194)

Exploring the mechanistic link between SF3B1 mutation and ring sideroblast formation in myelodysplastic syndrome

Scientific Reports, 2022
Acquired sideroblastic anemia, characterized by bone marrow ring sideroblasts (RS), is predominantly associated with myelodysplastic syndrome (MDS). Although somatic mutations in splicing factor 3b subunit 1 (SF3B1), which is involved in the RNA splicing
Tetsuro Ochi, Tohru Fujiwara, Koya Ono, Chie Suzuki, Maika Nikaido, Daichi Inoue, Hiroki Kato, Koichi Onodera, Satoshi Ichikawa, Noriko Fukuhara, Yasushi Onishi, Hisayuki Yokoyama, Yukio Nakamura, Hideo Harigae   +13 more
doaj   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Zinc-Containing Over-The-Counter Product Causing Sideroblastic Anemia and Neutropenia [PDF]

Sideroblastic anemia is characterized by anemia, granulocytopenia, and bone marrow findings of vacuolated precursors and ringed sideroblasts. Zinc-induced copper deficiency can present as sideroblastic anemia and neutropenia.
Stagg, Marshall Patrick, Majid, Baseera, Polala, Ravali, Miatech, Jennifer   +3 more
core   +1 more source

Congenital sideroblastic anemia model due to ALAS2 mutation is susceptible to ferroptosis

Scientific Reports, 2022
X-linked sideroblastic anemia (XLSA), the most common form of congenital sideroblastic anemia, is caused by a germline mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene.
Koya Ono, Tohru Fujiwara, Kei Saito, Hironari Nishizawa, Noriyuki Takahashi, Chie Suzuki, Tetsuro Ochi, Hiroki Kato, Yusho Ishii, Koichi Onodera, Satoshi Ichikawa, Noriko Fukuhara, Yasushi Onishi, Hisayuki Yokoyama, Rie Yamada, Yukio Nakamura, Kazuhiko Igarashi, Hideo Harigae   +17 more
doaj   +1 more source

Severe pulmonary arterial hypertension in congenital sideroblastic anemia from PUS1 mutation – a case report

BMC Medical Genomics
Background Myopathy, lactic acidosis and inherited sideroblastic anemia (MLASA) are a group of rare intriguing disorders with wider pathophysiological implications.
Shyam S. Kothari, Jayal Shah, Vishal Sharma, Riyaz Charaniya, Rujuta Parikh, Salil N. Vaniawala   +5 more
doaj   +1 more source

Biology of sideroblastic anemia.

[Rinsho ketsueki] The Japanese journal of clinical hematology, 2017
Sideroblastic anemia is characterized by anemia with ring sideroblasts produced by the bone marrow. Sideroblasts are formed by disutilization and deposit of iron in the mitochondoria. There are two forms of sideroblastic anemia: congenital and acquired.
openaire   +2 more sources

National Bleeding Disorder Foundation Clinical Practice Recommendations for Laboratory Screening of Iron Deficiency With and Without Anemia in the Inherited Bleeding Disorders Population

Haemophilia, Volume 32, Issue 3, Page 646-657, May/June 2026.
ABSTRACT Introduction The National Bleeding Disorder Foundation (NBDF) Medical and Scientific Advisory Council (MASAC) was formed in 1954 and issues recommendations and advisories pertinent to the bleeding disorders community. MASAC is comprised of > 25 rotating members from different medical disciplines and lived experience experts.
Glaivy Batsuli, Magdalena D. Lewandowska, Ming Y. Lim, Kelly Tickle, Maureen K. Baldwin, Rose Bender, Jennifer Davila, Brendan Hayes, Amanda Jacobson‐Kelly, Peter Kouides, Michele P. Lambert, Shilpa Nataraj, Michelle Sholzberg, Roona Sinha, Hanny Al‐Samkari, Amy L. Dunn   +15 more
wiley   +1 more source

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  

Etiological study of microcytic hypochromic anemia

Journal of Pathology of Nepal, 2016
Background: Microcytic hypochromic anemia is a distinct morphologic subtype of anemia with well- de ned etiology and treatment. The objective of this study was to determine the etiology and frequency of microcytic hypochromic anemia.
S Kafle, M Lakhey
doaj   +1 more source

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases

European Journal of Immunology, Volume 56, Issue 4, April 2026.
Investigation of IFN signaling in cultured skin fibroblasts from patients with genetically confirmed mitochondrial diseases of diverse origins revealed that altered IFN signaling is an inconsistent feature of these disorders. Cytosolic accumulation of mtDNA and mtRNA was variably detected and showed little correlation with ISG scores.
Manon Marchais, Alessandra Pennisi, Alexandre Pierga, Alice Lepelley, Nicolas Cagnard, Christine Bole, Patrick Nitschke, Mohamed Hamici, Frédéric Rieux‐Laucat, Manuel Schiff, Arnold Munnich, Agnès Rötig   +11 more
wiley   +1 more source