Prognostic Factors for Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay Due to TRNT1 Gene Mutations: A Case Report and Systematic Review.

A novel frameshift deletion in SLC25A38 and its role in mitochondrial dysfunction: A case study of sideroblastic anemia in a child from Iran.

A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child.

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

X-Linked Sideroblastic Anemia Caused by ALAS2 Intron 1 Mutation Successfully Treated by Allogenic Hematopoietic Stem Cell Transplant.

First Latin American Case of MLASA2 Caused by a Pathogenic Variant in the Anticodon-Binding Domain of YARS2.

Amino acid supplementation in mitochondrial aminoacyl-tRNA synthetase defects: two case reports of tyrosine supplementation in YARS2-associated disease and a review of the literature.

Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletion.

X-Linked Sideroblastic Anemia Induced by a Novel ALAS2 Nonsense Mutation: A Case Report and Literature Review.

A Case of Myelodysplastic Syndrome-Induced Acquired Sideroblastic Anemia.

SIFD-associated TRNT1 deficiency unveils importance of TSPO during macrophage antibacterial and antiviral responses.

Successful treatment of congenital sideroblastic anemia with low-dose decitabine in a patient with NDUFB11 gene mutation (c.276_278del): A case report.

Drug-induced severe sideroblastic anemia following combined olanzapine and fluvoxamine therapy: a case report.

Hyperferritinemia as a Clue to Neuroendocrine Carcinoma.

[Silent α-Thalassemia Complicated with the Alcohol-Induced Secondary Ring Sideroblastic Anemia].

Molecular Insights into the Pathophysiology of Dysregulated Erythropoiesis: The Crucial Role of Iron Homeostasis.

[The 511th case: severe anemia with increased ringed sideroblasts].

Congenital-onset MLASA2 from a novel YARS2 variant: A literature review.

[Emerging perspectives on sideroblastic anemia].

Vitamin B6 Deficiency May Not Always Present As Microcytic Hypochromic Anemia.

Successful Treatment of Anemia With Ringed Sideroblasts Induced by Antidepressants Through Vitamin B6 Supplementation and Discontinuation of Antidepressants.

Update of the sideroflexin (SLC56) gene family.

Interface dermatitis in a patient with TRNT1 deficiency: A case report.

Myopathy, lactic acidosis and sideroblastic anemia syndrome 1 (MLASA1): clinical hallmarks in a large pedigree with a novel PUS1 R144Q mutation, remarkable response to somatropin, and review of the literature.

Infant With a Severe Form of GLRX5-Related Atypical Hyperglycinemia Exhibiting Novel Cardiac and Neurologic Disease Manifestations at Autopsy.

Myelodysplastic neoplasms with ring sideroblasts without SF3B1 mutations in adults: enrichment of germline variants in congenital sideroblastic anemia genes.

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

Sideroblastic anemia Secondary to anti-tubercular Therapy in a Patient with Acute Promyelocytic Leukemia.

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

[Congenital Sideroblastic Anemia and Iron Overload in Older Age].

Expanding the Phenotype of DNA Ligase 1 Deficiency: First Report of Macrocytic Sideroblastic Anemia.

Sideroblastic anemia in children: challenges in diagnosis and management in three cases.

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.

Identification of a novel truncated pathogenic variant in PUS1 gene in two siblings of consanguineous Tunisian family: intrafamilial phenotypic variability related to mtDNA copy number.

X-linked sideroblastic anemia in females.

SLC25A38 is required for mitochondrial pyridoxal 5'-phosphate (PLP) accumulation.

P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model.

An erythroid-specific lentiviral vector improves anemia and iron metabolism in a new model of XLSA.

Engineered bacterial lipoate protein ligase A (lplA) restores lipoylation in cell models of lipoylation deficiency.

Whole Blood Transcriptome Analysis in Congenital Anemia Patients.

[Pathophysiology of sideroblastic anemia].

A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia.

Copper Deficiency Mimicking Myelodysplastic Syndrome: A Case Report.

Non-syndromic congenital sideroblastic anaemia; phenotype, and genotype of 15 Indian patients.

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

Luspatercept enhances hemoglobin levels in a Chinese boy with congenital sideroblastic anemia: A case report.

ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia.

Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine.

Elucidating the Role of Human ALAS2 C-terminal Mutations Resulting in Loss of Function and Disease.

Hematologic Manifestations in Primary Mitochondrial Diseases.

Zinc-Containing Over-The-Counter Product Causing Sideroblastic Anemia and Neutropenia.

The E592K variant of SF3B1 creates unique RNA missplicing and associates with high-risk MDS without ring sideroblasts.

Leber's hereditary optic neuropathy like disease in MT-ATP6 variant m.8969G>A.

Using portable X-ray fluorescence elemental analysis to explore porous skeletal lesions: Interplay of sex, age at death, and cause of death.

Dolutegravir-induced severe sideroblastic anemia.

[Role of aberrant RNA splicing in acquired sideroblastic anemia].

Mitochondrial tRNA pseudouridylation governs erythropoiesis.

Congenital sideroblastic anemia with vacuolated bone marrow precursors secondary to SLC25A38 mutation-A great mimicker of Pearson syndrome.

Deconvoluting the Complexity of Congenital Sideroblastic Anemias through Genetic and Functional Profiling.

Pseudouridine synthase 1 regulates erythropoiesis via transfer RNAs pseudouridylation and cytoplasmic translation.

Comprehensive Genomic Analysis Identifies a Diverse Landscape of Sideroblastic and Nonsideroblastic Iron-Related Anemias with Novel and Pathogenic Variants in an Iron-Deficient Endemic Setting.

Luspatercept for the treatment of congenital sideroblastic anemia: Two case reports.

Teaching NeuroImage: Glutaredoxin-5-Associated Variant Nonketotic Hyperglycinemia.

Dolutegravir-induced acquired sideroblastic anemia in a HIV positive patient: A challenging hematologic complication.

A Novel ALAS2 Mutation Causes Congenital Sideroblastic Anemia.

A stepwise diagnostic approach for undiagnosed Anemia in children: A model for low-middle income country.

Copper Deficiency as Wilson's Disease Overtreatment: A Systematic Review.

Erythropoiesis-hepcidin-iron axis in patients with X-linked sideroblastic anaemia: An explorative biomarker study.

Anemia: Microcytic Anemia.

Two new mutations in the GLRX5 gene cause sideroblastic anemia.

TRNT-1 Deficiency Is Associated with Loss of tRNA Integrity and Imbalance of Distinct Proteins.

Case report: Muscle involvement in a Chinese patient with TRNT1-related disorder.

Luspatercept as Potential Treatment for Congenital Sideroblastic Anemia.

Case report: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay: Three cases and a literature review.

Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation.

MLASA-1: A Rare Cause of Myopathy with Sideroblastic Anemia.

Severe Microcytic Anemia Caused by Complex Hereditary Spherocytosis and X-Linked Sideroblastic Anemia with Mutations in SPTB and ALAS2 Genes.

Clinical utility of targeted next-generation sequencing panel in routine diagnosis of hereditary hemolytic anemia: A national reference laboratory experience.

A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis.

Allogenic Hematopoietic Stem Cell Transplant in Iranian Patients With Congenital Sideroblastic Anemia: A Single-Center Experience.

Thalidomide as an Effective Treatment in Sideroblastic Anemia, Immunodeficiency, Periodic Fevers, and Developmental Delay (SIFD).

IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report.

Recurrent sideroblastic anemia during pregnancy.

Copper deficiency, a rare but correctable cause of pancytopenia: a review of literature.

Transient Sideroblastic Anemia Post-COVID-19 Infection.

Iron Metabolism in the Disorders of Heme Biosynthesis.

Causes and Pathophysiology of Acquired Sideroblastic Anemia.

A Rare Autoinflammatory Disorder in a Pediatric Patient with Favorable Response to Etanercept: Sideroblastic Anemia with B Cell Immunodeficiency, Periodic Fevers, and Developmental Delay Syndrome.

Acquired Sideroblastic Anemia: An Exploratory Comparative Statistical Analysis Between Clonal and Non-clonal Cases.

HSPA9 frameshift and loss-of-function mutations in a patient manifesting syndromic sideroblastic anemia and congenital anomalies.

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

Copper and Zinc Feud: Is This Myelodysplasia or Myelodysplastic Syndrome?

Isolated Pyridoxine Deficiency Presenting as Peripheral Neuropathy Post-chemotherapy.

When Ring Sideroblasts on Bone Marrow Smears Are Inconsistent with the Diagnosis of Myelodysplastic Neoplasms.

[Recent advances in the knowledge of sideroblastic anemia].

[Differential diagnosis of inherited bone marrow failure syndromes in erythrocyte disorders].

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

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.

Case Report: Clinical and Hematological Characteristics of εγδβ Thalassemia in an Italian Patient.

Loss of Function of mtHsp70 Chaperone Variants Leads to Mitochondrial Dysfunction in Congenital Sideroblastic Anemia.

Luspatercept for myelodysplastic syndromes/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis.

Structural basis for dysregulation of aminolevulinic acid synthase in human disease.

Cryo-EM structure of AMP-PNP-bound human mitochondrial ATP-binding cassette transporter ABCB7.

Hereditary myopathies associated with hematological abnormalities.

X-linked sideroblastic anaemia in a female fetus: a case report and a literature review.

Hypomorphic variant in TRNT1 induces a milder autoinflammatory disease with congenital cataracts and impaired sexual development.

36-year-old male with X-linked congenital sideroblastic anemia presenting as chronic microcytic anemia with iron overload.

Azacitidine is a potential therapeutic drug for pyridoxine-refractory female X-linked sideroblastic anemia.

COVID-19 associated respiratory failure complicating a pericardial effusion in a patient with sideroblastic anemia.

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.

[A case of SIFD syndrome caused by novel compound heterozygous variants of TRNT1 gene].

A phenotypic expansion of TRNT1 associated sideroblastic anemia with immunodeficiency, fevers, and developmental delay.

Hemochromatosis, Iron Overload-Related Diseases, and Pancreatic Cancer Risk in the Surveillance, Epidemiology, and End Results (SEER)-Medicare.

[New mutation of congenital sideroblastic anemia: a case report and literature review].

Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency.

A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia.

Biallelic mutations in the SARS2 gene presenting as congenital sideroblastic anemia.

The First Case Report of X-Linked Sideroblastic Anemia With Ataxia of Chinese Origin and Literature Review.

Two cases of sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome in Chinese Han children caused by novel compound heterozygous variants of the TRNT1 gene.

SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.

Differentiating iron-loading anemias using a newly developed and analytically validated ELISA for human serum erythroferrone.

Highly efficient gene editing and single cell analysis of hematopoietic stem/progenitor cells from X-linked sideroblastic anemia patients.

Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome.

Mammalian mitochondrial iron-sulfur cluster biogenesis and transfer and related human diseases.

A hemizygous p.R204Q mutation in the ALAS2 gene underlies X-linked sideroblastic anemia in an adult Chinese Han man.

Whole-Exome Sequencing Identifies Small Mutations in Pakistani Muscular Dystrophy Patients.

Biochemical impact of a disease-causing Ile67Asn substitution on BOLA3 protein.

Expression, purification and microscopic characterization of human ATP-binding cassette sub-family B member 7 protein.

[Rare sideroblastic anemias: about 2 cases, review of the literature and reminder of the main etiologies].

Sfxn1 is essential for erythrocyte maturation via facilitating hemoglobin production in zebrafish.

Pediatric Micra leadless pacemaker implantation via the internal jugular and femoral vein: a single-center, US experience.

Biallelic IARS2 mutations presenting as sideroblastic anemia.

Mitochondrial iron metabolism and its role in diseases.

A Novel ALAS2 Missense Mutation in Two Brothers With Iron Overload and Associated Alterations in Serum Hepcidin/Erythroferrone Levels.

Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus.

Acquisition of monosomy 7 and a RUNX1 mutation in Pearson syndrome.

Evolution of the human mitochondrial ABCB7 [2Fe-2S](GS)4 cluster exporter and the molecular mechanism of an E433K disease-causing mutation.

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

Zinc-induced copper deficiency, sideroblastic anemia, and neutropenia: A perplexing facet of zinc excess.

Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in SLC25A38.

[Ring sideroblasts and iron metabolism].

Antioxidant defense mechanisms and its dysfunctional regulation in the mitochondrial disease, Friedreich's ataxia.

Peripheral Blood and Bone Marrow Findings in Chronic Alcoholics with Special Reference to Acquired Sideroblastic Anemia.

Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia.

Enhancing mitochondrial function in vivo rescues MDS-like anemia induced by pRb deficiency.

Novel frameshift variant (c.409dupG) in SLC25A38 is a common cause of congenital sideroblastic anaemia in the Indian subcontinent.

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

Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism.

Diseases Associated with Defects in tRNA CCA Addition.

Hereditary Ataxia: A Focus on Heme Metabolism and Fe-S Cluster Biogenesis.

The expanding LARS2 phenotypic spectrum: HLASA, Perrault syndrome with leukodystrophy, and mitochondrial myopathy.

Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Novel mutations in the ALAS2 gene from patients with X-linked sideroblastic anemia.

A Novel PUS1 Mutation in 2 Siblings with MLASA Syndrome: A Review of the Literature.

YARS2 Missense Variant in Belgian Shepherd Dogs with Cardiomyopathy and Juvenile Mortality.

Novel biallelic TRNT1 mutations lead to atypical SIFD and multiple immune defects.

A Rare Case of Severe Copper Deficiency in an Infant with Exclusive Breast Feeding Mimicking Myelodysplastic Syndrome.

Identification of a novel heterozygous ALAS2 mutation in a young Chinese female with X-linked sideroblastic anemia.

Sideroblastic Anemia Associated With Isoniazid Prophylaxis in a Person Living With HIV.

Broadening the phenotypic spectrum of Pearson syndrome: Five new cases and a review of the literature.

Pennies for Your Thoughts: A Case Series of Pancytopenia Due to Zinc-induced Copper Deficiency in the Same Patient.

A uniparental isodisomy event introducing homozygous pathogenic variants drives a multisystem metabolic disorder.

[Clinical features and gene mutation spectrum in children with sideroblastic anemia].

Myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1): A 25-year follow-up.

Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features.

[A case report of X-linked sideroblastic anemia with novel ALAS2 gene mutation].

Reticulocyte Hemoglobin Equivalent (Ret-He) Combined with Red Blood Cell Distribution Width Has a Differentially Diagnostic Value for Thalassemias.

Prevalence, characteristics, and predictors of tuberculosis associated anemia.

Results of a pilot study of isoniazid in patients with erythropoietic protoporphyria.

Genotype/phenotype correlations of childhood-onset congenital sideroblastic anaemia in a European cohort.

Heme biosynthesis and the porphyrias.

[A microcytic sideroblastic anemia successfully treated with B6 vitamin].

Graft failure after reduced-intensity stem cell transplantation for congenital sideroblastic anemia.

PKD1L1-related situs inversus associated with sideroblastic anemia.

Dimeric ferrochelatase bridges ABCB7 and ABCB10 homodimers in an architecturally defined molecular complex required for heme biosynthesis.

Atypical SIFD with novel TRNT1 mutations: a case study on the pathogenesis of B-cell deficiency.

Regulation and tissue-specific expression of δ-aminolevulinic acid synthases in non-syndromic sideroblastic anemias and porphyrias.

Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN with RS-T) complicated by hyperleukocytosis and gene analysis in relation to leukocytosis.

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.

Generation and Molecular Characterization of Human Ring Sideroblasts: a Key Role of Ferrous Iron in Terminal Erythroid Differentiation and Ring Sideroblast Formation.

GLRX5 mutations impair heme biosynthetic enzymes ALA synthase 2 and ferrochelatase in Human congenital sideroblastic anemia.

Sideroblastic anemia associated with multisystem mitochondrial disorders.

Delayed diagnosis of congenital sideroblastic anemia.

Diverse phenotype in patients with complex I deficiency due to mutations in NDUFB11.

The molecular genetics of sideroblastic anemia.

[Molecular pathophysiology of sideroblastic anemia].

Reduced-toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia.

Rare anemias due to genetic iron metabolism defects.

Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.

Congenital sideroblastic anemia in a female.

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2.

Recurrent heteroplasmy for the MT-ATP6 p.Ser148Asn (m.8969G>A) mutation in patients with syndromic congenital sideroblastic anemia of variable clinical severity.

Sideroblastic anemia with myopathy secondary to novel, pathogenic missense variants in the YARS2 gene.

Anti-Correlation between the Dynamics of the Active Site Loop and C-Terminal Tail in Relation to the Homodimer Asymmetry of the Mouse Erythroid 5-Aminolevulinate Synthase.

Establishment of a cell model of X-linked sideroblastic anemia using genome editing.