2,316 results match your criteria Sideroblastic Anemia


PKD1L1-related situs inversus associated with sideroblastic anemia.

Clin Genet 2019 Feb 21. Epub 2019 Feb 21.

Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1111/cge.13512DOI Listing
February 2019

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

Haematologica 2019 Feb 14. Epub 2019 Feb 14.

National Institute of Child Health and Human Development, Bethesda, MD, USA

Loss-of-function mutations in the ABC transporter of the inner mitochondrial membrane, ABCB7, cause X-linked sideroblastic anemia with ataxia, a phenotype that remains largely unexplained by the proposed role of ABCB7 in exporting a special sulfur species for use in cytosolic iron-sulfur (Fe-S) cluster biogenesis. Here, we generated inducible ABCB7-knockdown cell lines to examine the time-dependent consequences of loss of ABCB7. We found that knockdown of ABCB7 led to significant loss of mitochondrial Fe-S proteins, which preceded the development of milder defects in cytosolic Fe-S enzymes. Read More

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http://dx.doi.org/10.3324/haematol.2018.214320DOI Listing
February 2019
2 Reads

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

Int J Hematol 2019 Feb 13. Epub 2019 Feb 13.

Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University (TMDU), 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan.

Mutation in the gene encoding tRNA nucleotidyl transferase, CCA-adding 1 (TRNT1), an enzyme essential for the synthesis of the 3'-terminal CCA sequence in tRNA molecules, results in a disorder that features sideroblastic anemia, B-cell immunodeficiency, periodic fever, and developmental delay. Mutations in TRNT1 are also linked to phenotypes including retinitis pigmentosa, cataracts, and cardiomyopathy. To date, it has remained unclear how defective TRNT1 is linked to B-cell deficiency. Read More

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http://link.springer.com/10.1007/s12185-019-02614-0
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http://dx.doi.org/10.1007/s12185-019-02614-0DOI Listing
February 2019
8 Reads

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

Mol Genet Metab 2019 Jan 23. Epub 2019 Jan 23.

INSERM U1149, CNRS ERL 8252, Centre de Recherche sur l'inflammation, Université Paris Diderot, site Bichat, Sorbonne Paris Cité, France, 16 rue Henri Huchard, 75018 Paris, France; Laboratory of Excellence, GR-Ex, Paris, France; AP-HP, HUPNVS, Centre Français des Porphyries, Hôpital Louis Mourier, Colombes, France. Electronic address:

Recently, new genes and molecular mechanisms have been identified in patients with porphyrias and sideroblastic anemias (SA). They all modulate either directly or indirectly the δ-aminolevulinic acid synthase (ALAS) activity. ALAS, is encoded by two genes: the erythroid-specific (ALAS2), and the ubiquitously expressed (ALAS1). Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.01.015DOI Listing
January 2019
3 Reads

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

Mol Med 2019 01 24;25(1). Epub 2019 Jan 24.

Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai New York, New York, 10029, USA.

Background: X-linked protoporphyria (XLP) (MIM 300752) is an erythropoietic porphyria due to gain-of-function mutations in the last exon (Ducamp et al., Hum Mol Genet 22:1280-88, 2013) of the erythroid-specific aminolevulinate synthase gene (ALAS2). Five ALAS2 exon 11 variants identified by the NHBLI Exome sequencing project (p. Read More

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http://dx.doi.org/10.1186/s10020-019-0070-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6344999PMC
January 2019
1 Read
4.508 Impact Factor

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

Mol Cell Biol 2019 Jan 22. Epub 2019 Jan 22.

Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, Sendai, Japan

Ring sideroblasts are a hallmark of sideroblastic anemia, though little is known about their characteristics. Here, we first generated mutant mice by disrupting the GATA-1 binding motif at the intron 1 enhancer of the gene, a gene responsible for X-linked sideroblastic anemia (XLSA). Although heterozygous female mice showed an anemic phenotype, ring sideroblasts were not observed in their bone marrow. Read More

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http://mcb.asm.org/lookup/doi/10.1128/MCB.00387-18
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http://dx.doi.org/10.1128/MCB.00387-18DOI Listing
January 2019
12 Reads

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

Mol Genet Metab 2019 Jan 7. Epub 2019 Jan 7.

INSERM U1149, Centre de Recherche sur l'inflammation (CRI), Paris, France; Université Paris Diderot, site Bichat, Sorbonne Paris cité, DHU UNITY, Paris, France; Laboratory of excellence GR-Ex, Paris, France. Electronic address:

Non-syndromic microcytic congenital sideroblastic anemia (cSA) is predominantly caused by defective genes encoding for either ALAS2, the first enzyme of heme biosynthesis pathway or SLC25A38, the mitochondrial importer of glycine, an ALAS2 substrate. Herein we explored a new case of cSA with two mutations in GLRX5, a gene for which only two patients have been reported so far. The patient was a young female with biallelic compound heterozygous mutations in GLRX5 (p. Read More

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http://dx.doi.org/10.1016/j.ymgme.2018.12.012DOI Listing
January 2019
3 Reads
2.625 Impact Factor

Sideroblastic anemia associated with multisystem mitochondrial disorders.

Pediatr Blood Cancer 2019 Apr 26;66(4):e27591. Epub 2018 Dec 26.

Department of Paediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

Background: Sideroblastic anemia represents a heterogeneous group of inherited or acquired diseases with disrupted erythroblast iron utilization, ineffective erythropoiesis, and variable systemic iron overload. In a cohort of 421 patients with multisystem mitochondrial diseases, refractory anemia was found in 8 children.

Results: Five children had sideroblastic anemia with increased numbers of ring sideroblasts >15%. Read More

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http://doi.wiley.com/10.1002/pbc.27591
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http://dx.doi.org/10.1002/pbc.27591DOI Listing
April 2019
25 Reads

Delayed diagnosis of congenital sideroblastic anemia.

Semin Hematol 2018 Oct 13;55(4):177-178. Epub 2017 Oct 13.

Department of Pathology, Weill Cornell MedicineNew York, NY.

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http://dx.doi.org/10.1053/j.seminhematol.2017.09.001DOI Listing
October 2018

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

Eur J Med Genet 2018 Nov 10. Epub 2018 Nov 10.

Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia. Electronic address:

Mitochondrial complex I deficiency is the most frequent mitochondrial disorder presenting in childhood and the mutational spectrum is highly heterogeneous. The NDUFB11 gene is one of the recently identified genes, which is located in the short arm of the X-chromosome. Here we report clinical, biochemical, functional and genetic findings of two male patients with lactic acidosis, hypertrophic cardiomyopathy and isolated complex I deficiency due to de novo hemizygous mutations (c. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.006DOI Listing
November 2018
12 Reads

The molecular genetics of sideroblastic anemia.

Blood 2019 Jan 6;133(1):59-69. Epub 2018 Nov 6.

Department of Pathology, Boston Children's Hospital, Boston, MA.

The sideroblastic anemias (SAs) are a group of inherited and acquired bone marrow disorders defined by pathological iron accumulation in the mitochondria of erythroid precursors. Like most hematological diseases, the molecular genetic basis of the SAs has ridden the wave of technology advancement. Within the last 30 years, with the advent of positional cloning, the human genome project, solid-state genotyping technologies, and next-generation sequencing have evolved to the point where more than two-thirds of congenital SA cases, and an even greater proportion of cases of acquired clonal disease, can be attributed to mutations in a specific gene or genes. Read More

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http://www.bloodjournal.org/lookup/doi/10.1182/blood-2018-08
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http://dx.doi.org/10.1182/blood-2018-08-815951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318428PMC
January 2019
22 Reads

CYP2E1 activity and children with obesity: possible confounding factors.

Br J Clin Pharmacol 2019 Feb 17;85(2):457. Epub 2018 Oct 17.

Department of Pharmacology, PGIMER, Chandigarh, India.

Lots of factors can influence CYP2E1 activities, e.g. thyroid status, different types of anaemia (fanconi anaemia and sideroblastic anaemia), etc. Read More

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http://doi.wiley.com/10.1111/bcp.13769
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http://dx.doi.org/10.1111/bcp.13769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6339960PMC
February 2019
4 Reads
3.880 Impact Factor

[Molecular pathophysiology of sideroblastic anemia].

Authors:
Tohru Fujiwara

Rinsho Ketsueki 2018;59(10):1979-1987

Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine.

Sideroblastic anemias (SAs) are heterogeneous congenital and acquired disorders characterized by anemia and the presence of ring sideroblasts in bone marrow. Congenital sideroblastic anemia (CSA) is a rare disease caused by mutations in genes that are involved in heme biosynthesis, iron-sulfur [Fe-S] cluster biosynthesis, and mitochondrial protein synthesis. The most common form of CSA is X-linked sideroblastic anemia; it occurs because of mutations in the erythroid-specific δ-aminolevulinate synthase gene (ALAS2), which is the first enzyme of the heme biosynthesis pathway in erythroid cells. Read More

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https://www.jstage.jst.go.jp/article/rinketsu/59/10/59_1979/
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http://dx.doi.org/10.11406/rinketsu.59.1979DOI Listing
January 2018
13 Reads

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

Clin Case Rep 2018 Sep 1;6(9):1841-1844. Epub 2018 Aug 1.

Pediatric Blood and Marrow Transplantation Yale New Haven Children's Hospital New Haven CT USA.

The case of an infant girl with severe congenital sideroblastic anemia associated with a novel molecular defect in mitochondrial transporter SLC25A38 is presented. Her transfusion dependence was fully reversed following allogeneic hematopoietic stem cell transplantation using a modified reduced-intensity conditioning regimen, and she remains healthy 5 years posttransplant. Read More

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http://dx.doi.org/10.1002/ccr3.1667DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6132150PMC
September 2018
4 Reads

Pathophysiology and classification of iron overload diseases; update 2018.

Transfus Clin Biol 2019 Feb 15;26(1):80-88. Epub 2018 Aug 15.

Service d'hématologie clinique et de thérapie cellulaire, faculté de médecine, hôpital Saint-Antoine, Sorbonne université, Inserm UMRs-938 centre de recherche Saint-Antoine, AP-HP, 75012 Paris, France. Electronic address:

Iron overload pathophysiology has benefited from significant advances in the knowledge of iron metabolism and in molecular genetics. As a consequence, iron overload nosology has been revisited. The hematologist may be confronted to a number of iron overload syndromes, from genetic or acquired origin. Read More

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http://dx.doi.org/10.1016/j.tracli.2018.08.006DOI Listing
February 2019
19 Reads

Rare anemias due to genetic iron metabolism defects.

Mutat Res 2018 Jul - Sep;777:52-63. Epub 2018 Jun 22.

Univ. Rennes, CNRS, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, F- 35000 Rennes, France. Electronic address:

Anemia is defined by a deficiency of hemoglobin, an iron-rich protein that binds oxygen in the blood. It can be due to multiple causes, either acquired or genetic. Alterations of genes involved in iron metabolism may be responsible, usually at a young age, for rare forms of chronic and often severe congenital anemia. Read More

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http://dx.doi.org/10.1016/j.mrrev.2018.06.003DOI Listing
November 2018
4 Reads

Molecular pathophysiology and genetic mutations in congenital sideroblastic anemia.

Free Radic Biol Med 2019 Mar 8;133:179-185. Epub 2018 Aug 8.

Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, 2-1 Seiryo-cho, Aoba-ku, Sendai 980-8575, Japan. Electronic address:

Sideroblastic anemia is a heterogeneous congenital and acquired disorder characterized by anemia and the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemia (CSA) is a rare disease caused by mutations in genes involved in the heme biosynthesis, iron-sulfur [Fe-S] cluster biosynthesis, and mitochondrial protein synthesis. The most prevalent form of CSA is X-linked sideroblastic anemia, caused by mutations in the erythroid-specific δ-aminolevulinate synthase (ALAS2), which is the first enzyme of the heme biosynthesis pathway in erythroid cells. Read More

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http://dx.doi.org/10.1016/j.freeradbiomed.2018.08.008DOI Listing
March 2019
2 Reads

Congenital sideroblastic anemia in a female.

Am J Hematol 2018 Sep 7;93(9):1181-1182. Epub 2018 Aug 7.

Centre for Haematology, St Mary's Hospital Campus of Imperial College London, St Mary's Hospital, Praed Street, London, W2 1NY, United Kingdom.

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http://dx.doi.org/10.1002/ajh.25196DOI Listing
September 2018
2 Reads

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

Haematologica 2018 Jul 19. Epub 2018 Jul 19.

Dana Farber-Boston Children Center for Cancer and Blood Disorders, Boston, MA, USA.

YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating tyrosine to its cognate mt-tRNA for mitochondrial protein synthesis. Here we describe 14 individuals from 11 families presenting with sideroblastic anemia and with YARS2 variants that we identified using a sideroblastic anemia gene panel or exome sequencing. Read More

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http://dx.doi.org/10.3324/haematol.2017.182659DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6269294PMC
July 2018
3 Reads

Five-day regimen of azacitidine for lower-risk myelodysplastic syndromes (refractory anemia or refractory anemia with ringed sideroblasts): A prospective single-arm phase 2 trial.

Cancer Sci 2018 Oct 26;109(10):3209-3215. Epub 2018 Aug 26.

Department of Hematology, PL General Hospital, Tondabayashi, Japan.

Although azacitidine is the first-line drug for higher-risk myelodysplastic syndrome (MDS) patients, its efficacy for lower-risk MDS remains unestablished. Therefore, we conducted a prospective study to examine the efficacy and safety of a 5-day regimen of azacitidine (AZA-5) for lower-risk MDS. The primary endpoint was hematological improvement (HI) after 4 courses of therapy. Read More

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http://dx.doi.org/10.1111/cas.13739DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6172056PMC
October 2018
11 Reads

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.

Int J Mol Sci 2018 Jun 28;19(7). Epub 2018 Jun 28.

Department of Molecular Medicine, Morsani College of Medicine, University of South Florida, Tampa, FL 33612, USA.

Biosynthesis of heme represents a complex process that involves multiple stages controlled by different enzymes. The first of these proteins is a pyridoxal 5′-phosphate (PLP)-dependent homodimeric enzyme, 5-aminolevulinate synthase (ALAS), that catalyzes the rate-limiting step in heme biosynthesis, the condensation of glycine with succinyl-CoA. Genetic mutations in human erythroid-specific ALAS (ALAS2) are associated with two inherited blood disorders, X-linked sideroblastic anemia (XLSA) and X-linked protoporphyria (XLPP). Read More

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http://dx.doi.org/10.3390/ijms19071899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073955PMC
June 2018
9 Reads

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

Exp Hematol 2018 09 13;65:57-68.e2. Epub 2018 Jun 13.

Department of Molecular Biochemistry, Iwate Medical University School of Medicine, Yahaba, Iwate, Japan. Electronic address:

ALAS2 gene mutations cause X-linked sideroblastic anemia. The presence of ring sideroblasts in a patient's bone marrow is the hallmark of sideroblastic anemia, but the precise mechanisms underlying sideroblast formation are largely unknown. Using a genome-editing system, a mutation was introduced in the erythroid-specific enhancer of the ALAS2 gene in HUDEP2 cells, which were derived from human umbilical stem cells and can produce erythrocytes. Read More

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http://dx.doi.org/10.1016/j.exphem.2018.06.002DOI Listing
September 2018
20 Reads

Five-aminolevulinic acid: New approach for congenital sideroblastic anemia.

Pediatr Int 2018 May;60(5):496-497

Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, Sendai, Japan.

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http://dx.doi.org/10.1111/ped.13558DOI Listing
May 2018
4 Reads

Congenital sideroblastic anemia: Advances in gene mutations and pathophysiology.

Gene 2018 Aug 19;668:182-189. Epub 2018 May 19.

Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100730, China. Electronic address:

Congenital sideroblastic anemia (CSA) is a series of rare, heterogeneous disorders, characterized by iron overload in the mitochondria of erythroblasts and ringed sideroblasts in bone marrow. In recent years, rapid development of next-generation sequencing technology brings great advance in understanding of genetic and pathophysiologic features of CSA. Based on the pathophysiology of mitochondrial iron metabolism, causative genes of CSA can be divided into three subtypes: heme biosynthesis related; iron‑sulfur cluster biosynthesis and transportation related; and mitochondrial respiratory chain synthesis related. Read More

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http://dx.doi.org/10.1016/j.gene.2018.05.074DOI Listing
August 2018
3 Reads

Targeted next generation sequencing for the diagnosis of patients with rare congenital anemias.

Eur J Haematol 2018 Sep 25;101(3):297-304. Epub 2018 Jun 25.

Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

Background: Most patients with anemia are diagnosed through clinical phenotype and basic laboratory testing. Nonetheless, in cases of rare congenital anemias, some patients remain undiagnosed despite undergoing an exhaustive workup. Genetic testing is complicated by the large number of genes involved in rare anemias and the similarities in the clinical presentation of the different syndromes. Read More

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http://dx.doi.org/10.1111/ejh.13097DOI Listing
September 2018
13 Reads

TLR-activated repression of Fe-S cluster biogenesis drives a metabolic shift and alters histone and tubulin acetylation.

Blood Adv 2018 05;2(10):1146-1156

Metals Biology and Molecular Medicine Group, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD; and.

Given the essential roles of iron-sulfur (Fe-S) cofactors in mediating electron transfer in the mitochondrial respiratory chain and supporting heme biosynthesis, mitochondrial dysfunction is a common feature in a growing list of human Fe-S cluster biogenesis disorders, including Friedreich ataxia and GLRX5-related sideroblastic anemia. Here, our studies showed that restriction of Fe-S cluster biogenesis not only compromised mitochondrial oxidative metabolism but also resulted in decreased overall histone acetylation and increased H3K9me3 levels in the nucleus and increased acetylation of α-tubulin in the cytosol by decreasing the lipoylation of the pyruvate dehydrogenase complex, decreasing levels of succinate dehydrogenase and the histone acetyltransferase ELP3, and increasing levels of the tubulin acetyltransferase MEC17. Previous studies have shown that the metabolic shift in Toll-like receptor (TLR)-activated myeloid cells involves rapid activation of glycolysis and subsequent mitochondrial respiratory failure due to nitric oxide (NO)-mediated damage to Fe-S proteins. Read More

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http://www.bloodadvances.org/lookup/doi/10.1182/bloodadvance
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http://dx.doi.org/10.1182/bloodadvances.2018015669DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965051PMC
May 2018
4 Reads

[Successful treatment of X-linked sideroblastic anemia with ALAS2 R452H mutation using vitamin B].

Rinsho Ketsueki 2018;59(4):401-406

Division of Hematology, Department of Internal Medicine, Shinshu University School of Medicine.

A 45-year-old man presented with fatigue and pain in the finger joints. Despite having a history of suspected sideroblastic anemia since the age of 18 years, he had not been followed up for years. Upon presentation, laboratory data revealed microcytic anemia and elevated serum ferritin levels. Read More

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http://dx.doi.org/10.11406/rinketsu.59.401DOI Listing
January 2018
30 Reads

Pearson Syndrome, A Medical Diagnosis Difficult to Sustain Without Genetic Testing.

Clin Lab 2018 Mar;64(3):375-377

Background: The detection of sideroblastic anemia in a newborn may suggest developing Pearson syndrome. The prognosis of these patients is severe and death occurs in the first 3 years of life, so it is important to find new ways of diagnosis. Case Presentation: In the case of our patient the diagnosis was supported only at the age of 5 months, highlighting the difficulties of diagnosis at this age. Read More

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http://dx.doi.org/10.7754/Clin.Lab.2017.171017DOI Listing
March 2018
3 Reads
1.084 Impact Factor

A Novel Mitochondrial DNA Deletion in Patient with Pearson Syndrome.

Med Arch 2018 Apr;72(2):148-150

Pediatric Hematology/Oncology Department, King Hussein Medical Center, Amman, Jordan.

Introduction: Arteriovenous Pearson syndrome is a very rare multisystemic mitochondrial disease characterized by sideroblastic anemia and exocrine pancreatic insufficiency. It is usually fatal in infancy.

Case Report: We reported a four-month-old infant presented with fever and pancytopenia. Read More

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http://dx.doi.org/10.5455/medarh.2018.72.148-150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911175PMC
April 2018
1 Read

[Diagnostic workup in front of an atypical non hemolytic anemia].

Rev Med Interne 2018 Nov 13;39(11):855-862. Epub 2018 Apr 13.

Service de médecine interne, centre hospitalier de Royan, 20, avenue de St-Sordelin, 17640 Vaux-sur-Mer, France; Groupement de coopération sanitaire de Saintonge, laboratoire inter-hospitalier de biologie médicale, centres hospitaliers de St-Jean-d'Angély, Saintes-et-Royan, 18, avenue du Port, 17400 St-Jean-d'Angély, France. Electronic address:

The most potential causes of "non hemolytic" anemias are iron, folate or vitamin B deficiencies, severe renal impairment, endocrine diseases, inflammation and medullary disorders. In a non-exceptionnal way no cause is found, sometimes because of a wrong interpretation of analysis results and sometimes because of a little known etiology. The goal of this review is to point out analytical difficulties and to remember some rarer etiologies. Read More

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http://dx.doi.org/10.1016/j.revmed.2018.03.382DOI Listing
November 2018

Mutation Analysis of X-linked Sideroblastic Anemia in a 12-Month-Old Boy by Massively Parallel Sequencing.

Ann Lab Med 2018 07;38(4):389-392

Department of Laboratory Medicine, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul, Korea.

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http://dx.doi.org/10.3343/alm.2018.38.4.389DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5895874PMC
July 2018
13 Reads

Structure of the Mitochondrial Aminolevulinic Acid Synthase, a Key Heme Biosynthetic Enzyme.

Structure 2018 04 15;26(4):580-589.e4. Epub 2018 Mar 15.

Department of Biology, Massachusetts Institute of Technology, Cambridge, MA 02139, USA; Howard Hughes Medical Institute, Massachusetts Institute of Technology, Cambridge, MA 02139, USA. Electronic address:

5-Aminolevulinic acid synthase (ALAS) catalyzes the first step in heme biosynthesis. We present the crystal structure of a eukaryotic ALAS from Saccharomyces cerevisiae. In this homodimeric structure, one ALAS subunit contains covalently bound cofactor, pyridoxal 5'-phosphate (PLP), whereas the second is PLP free. Read More

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http://dx.doi.org/10.1016/j.str.2018.02.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5894356PMC
April 2018
3 Reads

Novel mutations in mitochondrial carrier family gene SLC25A38, causing congenital sideroblastic anemia in Iranian families, identified by whole exome sequencing.

Blood Cells Mol Dis 2018 07 22;71:39-44. Epub 2018 Feb 22.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address:

Sideroblastic anemias are heterogeneous rare hematological disorders, representing diverse phenotypes. In this study, the genetic cause of congenital, transfusion dependent anemia in four unrelated families consisting of eighteen individuals, with one affected member was investigated. Probands were suspected to rare anemias, including sideroblastic anemia. Read More

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http://dx.doi.org/10.1016/j.bcmd.2018.02.002DOI Listing
July 2018
8 Reads
1 Citation
2.650 Impact Factor

In vitro studies of disease-linked variants of human tRNA nucleotidyltransferase reveal decreased thermal stability and altered catalytic activity.

Biochim Biophys Acta Proteins Proteom 2018 Apr 16;1866(4):527-540. Epub 2018 Feb 16.

Department of Chemistry and Biochemistry and Centre for Structural and Functional Genomics, Concordia University, 7141 Sherbrooke St. W., Montréal H4B 1R6, Québec, Canada. Electronic address:

Mutations in the human TRNT1 gene encoding tRNA nucleotidyltransferase (tRNA-NT), an essential enzyme responsible for addition of the CCA (cytidine-cytidine-adenosine) sequence to the 3'-termini of tRNAs, have been linked to disease phenotypes including congenital sideroblastic anemia with B-cell immunodeficiency, periodic fevers and developmental delay (SIFD) or retinitis pigmentosa with erythrocyte microcytosis. The effects of these disease-linked mutations on the structure and function of tRNA-NT have not been explored. Here we use biochemical and biophysical approaches to study how five SIFD-linked amino acid substitutions (T154I, M158V, L166S, R190I and I223T), residing in the N-terminal head and neck domains of the enzyme, affect the structure and activity of human tRNA-NT in vitro. Read More

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http://dx.doi.org/10.1016/j.bbapap.2018.02.002DOI Listing

Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors.

Ann Rheum Dis 2018 04 22;77(4):612-619. Epub 2018 Jan 22.

Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA.

Objectives: To characterise the clinical features, immune manifestations and molecular mechanisms in a recently described autoinflammatory disease caused by mutations in , a tRNA processing enzyme, and to explore the use of cytokine inhibitors in suppressing the inflammatory phenotype.

Methods: We studied nine patients with biallelic mutations in and the syndrome of congenital sideroblastic anaemia with immunodeficiency, fevers and developmental delay (SIFD). Genetic studies included whole exome sequencing (WES) and candidate gene screening. Read More

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http://ard.bmj.com/lookup/doi/10.1136/annrheumdis-2017-21240
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http://dx.doi.org/10.1136/annrheumdis-2017-212401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5890629PMC
April 2018
26 Reads

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.

Neurogenetics 2018 Jan 19;19(1):49-53. Epub 2018 Jan 19.

Research Programs Unit, Molecular Neurology, Biomedicum-Helsinki, University of Helsinki, Helsinki, Finland.

Mutations in mitochondrial ATP synthase 6 (MT-ATP6) are a frequent cause of NARP (neurogenic muscle weakness, ataxia, and retinitis pigmentosa) or Leigh syndromes, especially a point mutation at nucleotide position 8993. M.8969G>A is a rare MT-ATP6 mutation, previously reported only in three individuals, causing multisystem disorders with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia or IgA nephropathy. Read More

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http://dx.doi.org/10.1007/s10048-018-0537-9DOI Listing
January 2018
10 Reads

Pearson syndrome.

Expert Rev Hematol 2018 03 23;11(3):239-246. Epub 2018 Jan 23.

b Clinical and Experimental Hematology Unit, G. Gaslini Children's Hospital , Genova , Italy.

Introduction: Pearson syndrome (PS) is a sporadic and very rare syndrome classically associated with single large-scale deletions of mitochondrial DNA and characterized by refractory sideroblastic anemia during infancy. Areas covered: This review presents an analysis and interpretation of the published data that forms the basis for our understanding of PS. PubMed, Google Scholarand Thompson ISI Web of Knowledge were searched for relevant data. Read More

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http://dx.doi.org/10.1080/17474086.2018.1426454DOI Listing
March 2018
9 Reads

Congenital sideroblastic anemia of a Saudi child.

Sudan J Paediatr 2017 ;17(1):49-51

Department of Hematology Oncology, Maternity and Children Hospital, Saudi Arabia.

Sideroblastic anemia is a heterogeneous group of disorders characterized by the presence of ring sideroblasts in the bone marrow, and has congenital and acquired forms. Congenital sideroblastic anemia is a rare condition, which is mostly X-linked, caused by mutations of delta-aminolevulinic acid synthase 2. We describe one case of congenital sideroblastic anemia, indicating an autosomal recessive inheritance, with its clinico-hematological profile. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5621859PMC
January 2017
3 Reads

Iron metabolism and related diseases: an overview.

Authors:
Hideo Harigae

Int J Hematol 2018 Jan 5;107(1):5-6. Epub 2017 Dec 5.

Department of Hematology and Rheumatology, Tohoku University Graduate School of Medicine, 2-1, Seiryo-Machi, Aoba-ku, Sendai, 980-8575, Japan.

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http://dx.doi.org/10.1007/s12185-017-2384-0DOI Listing
January 2018
3 Reads

Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay.

Clin Immunol 2018 Mar 21;188:20-22. Epub 2017 Nov 21.

Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, ASST-Spedali Civili of Brescia, Brescia, Italy.

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http://dx.doi.org/10.1016/j.clim.2017.11.008DOI Listing
March 2018
11 Reads

Iron metabolism in erythroid cells and patients with congenital sideroblastic anemia.

Int J Hematol 2018 Jan 14;107(1):44-54. Epub 2017 Nov 14.

Department of Molecular Biochemistry, Iwate Medical University, Nishitokuta 2-1-1, Yahaba, Iwate, 028-3694, Japan.

Sideroblastic anemias are anemic disorders characterized by the presence of ring sideroblasts in a patient's bone marrow. These disorders are typically divided into two types, congenital or acquired sideroblastic anemia. Recently, several genes were reported as responsible for congenital sideroblastic anemia; however, the relationship between the function of the gene products and ring sideroblasts is largely unclear. Read More

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http://dx.doi.org/10.1007/s12185-017-2368-0DOI Listing
January 2018
2 Reads

[Ring sideroblasts].

Tidsskr Nor Laegeforen 2017 11 13;137(21). Epub 2017 Nov 13.

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http://tidsskriftet.no/2017/11/medisinen-i-bilder/ringsidero
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http://dx.doi.org/10.4045/tidsskr.17.0502DOI Listing
November 2017
5 Reads

Pyridoxine-sensitive X-linked 'sideroblastic' anaemia in the absence of ring sideroblasts - molecular diagnosis.

Br J Haematol 2018 01 5;180(1):10. Epub 2017 Nov 5.

Haematology Department, Royal Victoria Infirmary, Newcastle-upon-Tyne Hospitals NHS Foundation Trust, Newcastle-upon-Tyne, UK.

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http://dx.doi.org/10.1111/bjh.14909DOI Listing
January 2018
1 Read