2,374 results match your criteria Sideroblastic Anemia


[Ring sideroblasts and iron metabolism].

Authors:
Tohru Fujiwara

Rinsho Ketsueki 2020 ;61(7):770-778

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

Ring sideroblasts show abnormal mitochondrial iron accumulation, and their emergence in the bone marrow is a characteristic of sideroblastic anemias (SAs). SAs are a group of heterogeneous congenital and acquired disorders. Congenital SA is a rare disease caused by gene mutations involved in heme biosynthesis, iron-sulfur cluster biosynthesis, and mitochondrial protein synthesis. Read More

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http://dx.doi.org/10.11406/rinketsu.61.770DOI Listing
January 2020

Antioxidant Defense Mechanisms and its Dysfunctional Regulation in the Mitochondrial Disease, Friedreich's Ataxia.

Free Radic Biol Med 2020 Jul 30. Epub 2020 Jul 30.

Molecular Pharmacology and Pathology Program, Department of Pathology and Bosch Institute, Medical Foundation Building (K25), University of Sydney, Sydney, New South Wales, 2006, Australia; Department of Pathology and Biological Responses, Nagoya University Graduate School of Medicine, Nagoya 466-8550, Japan; Centre for Cancer Cell Biology, Griffith Institute for Drug Discovery, Griffith University, Nathan, Brisbane, Queensland, 4111, Australia. Electronic address:

Redox stress is associated with the pathogenesis of a wide variety of disease states. This can be amplified potentially through redox active iron deposits in oxidatively active organelles such as the mitochondrion. There are a number of disease states, including Friedreich's ataxia (FA) and sideroblastic anemia, where iron metabolism is dysregulated and leads to mitochondrial iron accumulation. Read More

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http://dx.doi.org/10.1016/j.freeradbiomed.2020.07.019DOI Listing

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

Haematologica 2020 Jul 23. Epub 2020 Jul 23.

Dip. di Medicina Molecolare e Biotecnologie Mediche, Universita degli Studi di Napoli Federico II, Napoli, Italy; CEINGE Biotecnologie Avanzate.

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http://dx.doi.org/10.3324/haematol.2020.258533DOI Listing

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

Indian J Hematol Blood Transfus 2020 Jul 25;36(3):559-564. Epub 2019 Sep 25.

Department of Pathology, University College of Medical Sciences and Guru Teg Bahadur Hospital, Dilshad Garden, New Delhi, 110095 Delhi India.

Anemia associated with alcoholism has numerous causes, most common being megaloblastic anemia and acquired sideroblastic anemia (SA). The bone marrow aspirate (BMA) and bone marrow iron (BMIr) findings and their correlation with peripheral blood smear (PBS) have not been extensively described in literature. We aim to study the spectrum of hematological abnormalities in chronic alcoholics. Read More

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http://dx.doi.org/10.1007/s12288-019-01188-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7326746PMC
July 2020
0.234 Impact Factor

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

J Clin Invest 2020 Jul 7. Epub 2020 Jul 7.

Pathology, Boston Children's Hospital, Boston, United States of America.

The congenital sideroblastic anemias (CSAs) can be caused by primary defects in mitochondrial iron-sulfur cluster (Fe-S) biogenesis. HSCB (heat shock cognate B), which encodes a mitochondrial co-chaperone, also known as HSC20 (heat shock cognate protein 20), is the partner of mitochondrial heat shock protein A9 (HSPA9). Together with glutaredoxin 5 (GLRX5), HSCB and HSPA9 facilitate the transfer of nascent two-iron, two-sulfur ([2Fe-2S]) clusters to recipient mitochondrial proteins. Read More

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http://dx.doi.org/10.1172/JCI135479DOI Listing

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

Exp Hematol 2020 Jul 3. Epub 2020 Jul 3.

Division of Molecular Medicine and Gene Therapy, Lund Stem Cell Center, Lund University, Lund, Sweden.

Erythropoiesis is intimately coupled to cell division, and deletion of the cell cycle regulator retinoblastoma protein (pRb) causes anemia in mice. Erythroid-specific deletion of pRb has been found to result in inefficient erythropoiesis because of deregulated coordination of cell cycle exit and mitochondrial biogenesis. However, the pathophysiology remains to be fully described, and further characterization of the link between cell cycle regulation and mitochondrial function is needed. Read More

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http://dx.doi.org/10.1016/j.exphem.2020.06.006DOI Listing

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

J Clin Pathol 2020 Jun 30. Epub 2020 Jun 30.

Department of Haematology, Christian Medical College, Vellore, Tamil Nadu, India

Aims: Congenital sideroblastic anaemias (CSAs) are a group of rare disorders with the presence of ring sideroblasts in the bone marrow. Pathogenic variants are inherited in an autosomal recessive/X-linked fashion. The study was aimed at characterising the spectrum of mutations in and genes in sideroblastic anaemia patients, exploring the genotype-phenotype correlation and identifying the haplotype associated with any recurrent mutation. Read More

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http://dx.doi.org/10.1136/jclinpath-2020-206647DOI Listing
June 2020
2.915 Impact Factor

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

Immunol Lett 2020 Sep 24;225:64-65. Epub 2020 Jun 24.

Department of Life Sciences and Public Health, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy; Università Cattolica del Sacro Cuore, Rome, Italy.

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http://dx.doi.org/10.1016/j.imlet.2020.06.012DOI Listing
September 2020

Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Congenital Anemias.

Mol Diagn Ther 2020 Aug;24(4):397-407

Department of Hematology-Oncology, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.

Congenital anemias are a wide spectrum of diseases including hypoproliferative anemia syndromes, dyserythropoietic anemias, sideroblastic anemias, red blood cell membrane and enzymatic defects, hemoglobinopathies, and thalassemia syndromes. The various congenital anemia syndromes may have similar clinical and laboratory presentations, making the diagnosis challenging. The traditional work-up, which includes a complete blood count, blood smears, bone marrow studies, flow cytometry, and the osmotic fragility test, does not always lead to the diagnosis. Read More

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http://dx.doi.org/10.1007/s40291-020-00478-3DOI Listing

Pearson Syndrome: Spontaneously Recovering Anemia and Hypoparathyroidism.

Indian J Pediatr 2020 Jun 15. Epub 2020 Jun 15.

Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Raebareli Road, Lucknow, Uttar Pradesh, 226014, India.

Pearson syndrome is a genetic disorder caused by mutations in the mitochondrial genome, characterized by failure to thrive with hematological and gastrointestinal abnormalities. Individuals with Pearson syndrome may develop the symptoms and signs of Kearns-Sayre syndrome with multisystem involvement. Spontaneous recovery of hematological problems is reported as is the situation in the present case. Read More

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http://dx.doi.org/10.1007/s12098-020-03333-9DOI Listing

COVID-19: hemoglobin, iron, and hypoxia beyond inflammation. A narrative review.

Clin Pract 2020 May 28;10(2):1271. Epub 2020 May 28.

ARNAS Civico Di Cristina Benfratelli Hospital Trust, Palermo; PROMISE Department, University of Palermo School of Medicine, Palermo, Italy.

Coronavirus disease-19 (COVID-19) has been regarded as an infective-inflammatory disease, which affects mainly lungs. More recently, a multi-organ involvement has been highlighted, with different pathways of injury. A hemoglobinopathy, hypoxia and cell iron overload might have a possible additional role. Read More

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http://dx.doi.org/10.4081/cp.2020.1271DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7267810PMC

Diseases Associated with Defects in tRNA CCA Addition.

Int J Mol Sci 2020 May 27;21(11). Epub 2020 May 27.

Department of Health Sciences, Carleton University, Ottawa, ON K1S 5B6, Canada.

tRNA nucleotidyl transferase 1 (TRNT1) is an essential enzyme catalyzing the addition of terminal cytosine-cytosine-adenosine (CCA) trinucleotides to all mature tRNAs, which is necessary for aminoacylation. It was recently discovered that partial loss-of-function mutations in TRNT1 are associated with various, seemingly unrelated human diseases including sideroblastic anemia with B-cell immunodeficiency, periodic fevers and developmental delay (SIFD), retinitis pigmentosa with erythrocyte microcytosis, and progressive B-cell immunodeficiency. In addition, even within the same disease, the severity and range of the symptoms vary greatly, suggesting a broad, pleiotropic impact of imparting TRNT1 function on diverse cellular systems. Read More

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http://dx.doi.org/10.3390/ijms21113780DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7312816PMC

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

Int J Mol Sci 2020 May 26;21(11). Epub 2020 May 26.

Molecular Biotechnology Center (MBC), Department of Molecular Biotechnology and Health Sciences, University of Torino, 10126 Torino, Italy.

Heme and Fe-S clusters regulate a plethora of essential biological processes ranging from cellular respiration and cell metabolism to the maintenance of genome integrity. Mutations in genes involved in heme metabolism and Fe-S cluster biogenesis cause different forms of ataxia, like posterior column ataxia and retinitis pigmentosa (PCARP), Friedreich's ataxia (FRDA) and X-linked sideroblastic anemia with ataxia (XLSA/A). Despite great efforts in the elucidation of the molecular pathogenesis of these disorders several important questions still remain to be addressed. Read More

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http://dx.doi.org/10.3390/ijms21113760DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7312568PMC

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

Hum Mutat 2020 Aug;41(8):1425-1434

Discipline of Child & Adolescent Health, Sydney Medical School, Sydney, Australia.

LARS2 variants are associated with Perrault syndrome, characterized by premature ovarian failure and hearing loss, and with an infantile lethal multisystem disorder: Hydrops, lactic acidosis, sideroblastic anemia (HLASA) in one individual. Recently we reported LARS2 deafness with (ovario) leukodystrophy. Here we describe five patients with a range of phenotypes, in whom we identified biallelic LARS2 variants: three patients with a HLASA-like phenotype, an individual with Perrault syndrome whose affected siblings also had leukodystrophy, and an individual with a reversible mitochondrial myopathy, lactic acidosis, and developmental delay. Read More

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http://dx.doi.org/10.1002/humu.24050DOI Listing
August 2020
5.144 Impact Factor

Myelodysplastic syndromes: moving towards personalized management.

Haematologica 2020 Jul 21;105(7):1765-1779. Epub 2020 May 21.

Stanford Cancer Institute, Division of Hematology, Stanford University School of Medicine, Stanford, CA, USA.

The myelodysplastic syndromes (MDS) share their origin in the hematopoietic stem cell but have otherwise very heterogeneous biological and genetic characteristics. Clinical features are dominated by cytopenia and a substantial risk for progression to acute myeloid leukemia. According to the World Health Organization, MDS is defined by cytopenia, bone marrow dysplasia and certain karyotypic abnormalities. Read More

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http://dx.doi.org/10.3324/haematol.2020.248955DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7327628PMC

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

Biomolecules 2020 Apr 23;10(4). Epub 2020 Apr 23.

Department of Biosciences, Biotechnologies and Biopharmaceutics, Laboratory of Biochemistry and Molecular Biology, University of Bari Aldo Moro, via E. Orabona 4, 70125 Bari, Italy.

In the 1980s, after the mitochondrial DNA (mtDNA) had been sequenced, several diseases resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations in the nuclear genes encoding mitochondrial proteins were found. A group of these diseases are due to defects of mitochondrial carriers, a family of proteins named solute carrier family 25 (SLC25), that transport a variety of solutes such as the reagents of ATP synthase (ATP, ADP, and phosphate), tricarboxylic acid cycle intermediates, cofactors, amino acids, and carnitine esters of fatty acids. Read More

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http://dx.doi.org/10.3390/biom10040655DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7226361PMC

Protecting vulnerable patients with inherited anaemias from unnecessary death during the COVID-19 pandemic.

Br J Haematol 2020 05 10;189(4):635-639. Epub 2020 May 10.

Guys and St Thomas's NHS Trust, London, UK.

With the developing COVID-19 pandemic, patients with inherited anaemias require specific advice regarding isolation and changes to usual treatment schedules. The National Haemoglobinopathy Panel (NHP) has issued guidance on the care of patients with sickle cell disease, thalassaemia, Diamond Blackfan anaemia (DBA), congenital dyserythropoietic anaemia (CDA), sideroblastic anaemia, pyruvate kinase deficiency and other red cell enzyme and membrane disorders. Cascading of accurate information for clinicians and patients is paramount to preventing adverse outcomes, such as patients who are at increased risk of fulminant bacterial infection due to their condition or its treatment erroneously self-isolating if their fever is mistakenly attributed to a viral cause, delaying potentially life-saving antibiotic therapy. Read More

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http://dx.doi.org/10.1111/bjh.16687DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264776PMC

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

Int J Lab Hematol 2020 Aug 16;42(4):e160-e163. Epub 2020 Apr 16.

SINO-US Diagnostics, Tianjin, China.

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http://dx.doi.org/10.1111/ijlh.13214DOI Listing

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

J Pediatr Hematol Oncol 2020 Apr 13. Epub 2020 Apr 13.

Departments of Pediatric Metabolism.

Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) is a rare mitochondrial disorder characterized by MLASA. Variable features of this condition include failure to thrive, and developmental delay or intellectual disability. Additional symptoms consist of cognitive impairment, skeletal and dental abnormalities, delayed motor milestones, cardiomyopathy, dysphagia, and respiratory insufficiency. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001806DOI Listing

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

Genes (Basel) 2020 03 14;11(3). Epub 2020 Mar 14.

Institute of Genetics, Vetsuisse Faculty, University of Bern, 3001 Bern, Switzerland.

Dog puppy loss by the age of six to eight weeks after normal development is relatively uncommon. Necropsy findings in two spontaneously deceased Belgian Shepherd puppies indicated an abnormal accumulation of material in several organs. A third deceased puppy exhibited mild signs of an inflammation in the central nervous system and an enteritis. Read More

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http://dx.doi.org/10.3390/genes11030313DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7140874PMC

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

Genes Dis 2020 Mar 23;7(1):128-137. Epub 2020 Jan 23.

Department of Pediatric Research Institute, Children's Hospital of Chongqing Medical University, Chongqing, PR China.

Mutations in the gene encoding transfer RNA (tRNA) nucleotidyltransferase, CCA-adding 1 (TRNT1), an enzyme essential for the synthesis of the 3'-terminal CCA sequence in tRNA molecules, are associated with a rare syndrome of congenital sideroblastic anemia, B cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Clinical manifestations and immunological phenotypes were assessed in a Chinese patient with novel compound heterozygous mutations in . The patient required multiple hospitalizations starting at the age of 2 years for recurrent fevers without an infective cause. Read More

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http://dx.doi.org/10.1016/j.gendis.2020.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7063413PMC

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

Case Rep Oncol 2020 Jan-Apr;13(1):62-68. Epub 2020 Feb 4.

Department of Hematology, Hamad Medical Corporation, Doha, Qatar.

An 11-month-old full-term female infant was referred to the hematology clinic due to marked anemia and neutropenia. She was almost exclusively breastfed and rejecting all trials for supplementary food including artificial formulas. Bone marrow aspirate revealed cytoplasmic vacuolization in precursors of the myeloid and erythroid series with significant dysgranulopoiesis and dyserythropoiesis and ringed sideroblasts. Read More

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http://dx.doi.org/10.1159/000505483DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7036529PMC
February 2020

Treatment of Acquired Sideroblastic Anemias.

Hematol Oncol Clin North Am 2020 Apr 21;34(2):401-420. Epub 2020 Jan 21.

Division of Hematology, Department of Medicine, Mayo Clinic, 200 1st Street Southwest, Rochester, MN 55905, USA. Electronic address:

Sideroblastic anemias are a heterogeneous group of disorders unified by the presence of abnormal erythroid precursors with perinuclear mitochondrial iron deposition in the bone marrow. Based on etiology, they are classified into clonal and nonclonal. Clonal sideroblastic anemias refer to myeloid neoplasms with ring sideroblasts (RS) and frequently have somatic perturbations in the SF3B1 gene. Read More

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http://dx.doi.org/10.1016/j.hoc.2019.11.002DOI Listing

Luspatercept in Patients with Lower-Risk Myelodysplastic Syndromes.

N Engl J Med 2020 01;382(2):140-151

From Service d'Hématologie Séniors, Hôpital Saint-Louis, Assistance Publique-Hôpitaux de Paris and Université Paris 7, Paris (P.F., L.A.), Service des Maladies du Sang, Hôpital Huriez, Centre Hospitalier Universitaire (CHU) de Lille, Lille (B.Q.), the Department of Internal Medicine, CHU Toulouse, Institut Universitaire du Cancer de Toulouse, Toulouse (O.B.-R.), and Université Cote d'Azur, Département d'Hématologie Clinique, CHU Nice, Nice (T.C.) - all in France; Medical Clinic and Policlinic 1, Hematology and Cellular Therapy, Leipzig University Hospital, Leipzig (U.P.), Klinik für Hämatologie, Onkologie, and Klinische Immunologie, Universitätsklinik Düsseldorf, Düsseldorf (U.G.), and Klinik und Poliklinik für Innere Medizin III, Technische Universität München, Munich (K.S.G.) - all in Germany; the Department of Haemato-Oncology, King's College London, London (G.J.M.), Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford (P.V.), and the Department of Haematology, Leeds Teaching Hospitals NHS Trust, Leeds (D.B.) - all in the United Kingdom; the Department of Leukemia, University of Texas M.D. Anderson Cancer Center, Houston (G.G.-M.); Odette Cancer Centre, Sunnybrook Health Sciences Centre, Toronto (R.B.); MDS Unit, Azienda Ospedaliero Universitaria Careggi, University of Florence, Florence (V.S.), the Department of Oncology and Hematology, S. Orsola-Malpighi University Hospital, Bologna (C.F.), the University of Pavia, Fondazione IRCCS Policlinico S. Matteo, Pavia (M.C.), the Hematology Unit, Santi Antonio e Biagio e Cesare Arrigo Hospital, Alessandria (F.S., V.G.), and Dipartimento Biomedicina e Prevenzione, University of Rome Tor Vergata, Rome (M.-T.V.) - all in Italy; the Hematology Department, University Hospital of Salamanca, Institute of Biomedical Research of Salamanca, Salamanca (M.D.-C.), Unidad de Hematología, Hospital Universitario Virgen del Rocío, Seville (J.F.F.), and the Department of Hematology, Hospital Universitario Cruces, Vizcaya (B.A.) - all in Spain; the Department of Hematology Science, School of Medicine, Ankara University, Ankara, Turkey (O.I.); the Department of Hematology and Medical Oncology, Cleveland Clinic, Cleveland (M.A.S.); the Department of Hematology, Algemeen Ziekenhuis Sint-Jan, Bruges (D.S.), and Universitair Ziekenhuis Gent, Ghent (D.M.) - both in Belgium; the Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins, Baltimore (A.E.D.); the Division of Hematology-Oncology, Herbert Irving Comprehensive Cancer Center, Columbia University Medical Center (J.G.J.), and Albert Einstein College of Medicine (A.V.) - both in New York; the Department of Hematology, University Medical Center of Groningen, University of Groningen, Groningen, the Netherlands (E.V.); Stanford University Cancer Center, Stanford, CA (P.L.G.); the Center for Hematology and Regenerative Medicine, Department of Medicine, Karolinska Institutet, Stockholm (E.H.-L.); the Department of Internal Medicine, Yale School of Medicine, Yale University, New Haven, CT (A.M.Z.); Vanderbilt University School of Medicine, Vanderbilt-Ingram Cancer Center, Nashville (M.R.S.); Celgene, Summit, NJ (A.L., J.Z., A.R., D.R.D.); Celgene International, Boudry, Switzerland (A.B.); Acceleron Pharma, Cambridge, MA (P.G.L., M.L.S.); and Moffitt Cancer Center, Tampa, FL (R.S.K., A.F.L.).

Background: Patients with anemia and lower-risk myelodysplastic syndromes in whom erythropoiesis-stimulating agent therapy is not effective generally become dependent on red-cell transfusions. Luspatercept, a recombinant fusion protein that binds transforming growth factor β superfamily ligands to reduce SMAD2 and SMAD3 signaling, showed promising results in a phase 2 study.

Methods: In a double-blind, placebo-controlled, phase 3 trial, we randomly assigned patients with very-low-risk, low-risk, or intermediate-risk myelodysplastic syndromes (defined according to the Revised International Prognostic Scoring System) with ring sideroblasts who had been receiving regular red-cell transfusions to receive either luspatercept (at a dose of 1. Read More

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http://dx.doi.org/10.1056/NEJMoa1908892DOI Listing
January 2020
55.873 Impact Factor

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

Ann Hematol 2020 Feb 17;99(2):371-373. Epub 2019 Dec 17.

Department of Hematology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, No. 1 Shuaifuyuan, Beijing, 100730, China.

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http://dx.doi.org/10.1007/s00277-019-03894-6DOI Listing
February 2020

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

Am J Ther 2020 Jul/Aug;27(4):e409-e410

Department of Pediatrics and Office of Global Health, Wake Forest School of Medicine and Brenner Children's Hospital, Winston-Salem, NC.

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http://dx.doi.org/10.1097/MJT.0000000000000962DOI Listing
December 2019

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

Am J Med Genet A 2020 02 11;182(2):365-373. Epub 2019 Dec 11.

Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Pearson syndrome (PS) is a multisystem mitochondrial respiratory chain disorder typically characterized by sideroblastic anemia and exocrine pancreatic insufficiency. PS is caused by a single large-scale mitochondrial DNA (mtDNA) deletion. PS classically presents in the first year of life and may be fatal in infancy. Read More

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http://dx.doi.org/10.1002/ajmg.a.61433DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7183758PMC
February 2020

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

Clin Pract Cases Emerg Med 2019 Nov 14;3(4):341-344. Epub 2019 Oct 14.

Wayne State University, Department of Emergency Medicine, Detroit, Michigan.

A 47-year-old schizophrenic male presented on three separate occasions with pancytopenia and sideroblastic anemia due to copper deficiency from massive zinc penny ingestion. The poisoning was treated differently on each visit: intravenous (IV) copper plus surgical decontamination and chelation with calcium disodium versenate (CaNa2EDTA); IV copper plus whole bowel irrigation; and IV copper with surgical decontamination only. Serum zinc half-lives were 80. Read More

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http://dx.doi.org/10.5811/cpcem.2019.7.43697DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6861045PMC
November 2019

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

Cold Spring Harb Mol Case Stud 2019 12 13;5(6). Epub 2019 Dec 13.

Laboratory of Genetic Metabolic Diseases, Amsterdam Gastroenterology and Metabolism, Immunology and Infectious Diseases, Emma Children's Hospital, Amsterdam UMC, University of Amsterdam, 1105 AZ Amsterdam, Netherlands.

Uniparental isodisomy (UPiD) is a rare genetic event that occurs when two identical copies of a single chromosome are inherited from one parent. Here we report a patient with a severe, multisystem metabolic disorder who inherited two copies of Chromosome 12 from her father. He was a heterozygous carrier of a variant in the muscle-specific enzyme 6-phosphofructokinase () gene and of a truncating variant in the pseudouridine synthase 1 () gene (both on Chromosome 12), resulting in a homozygous state of these mutations in his daughter. Read More

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http://dx.doi.org/10.1101/mcs.a004457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6913148PMC
December 2019

Hepcidin and Anemia: A Tight Relationship.

Front Physiol 2019 9;10:1294. Epub 2019 Oct 9.

Division of Genetics and Cell Biology, San Raffaele Scientific Institute, Milan, Italy.

Hepcidin, the master regulator of systemic iron homeostasis, tightly influences erythrocyte production. High hepcidin levels block intestinal iron absorption and macrophage iron recycling, causing iron restricted erythropoiesis and anemia. Low hepcidin levels favor bone marrow iron supply for hemoglobin synthesis and red blood cells production. Read More

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http://dx.doi.org/10.3389/fphys.2019.01294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794341PMC
October 2019
1 Read

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

Zhongguo Dang Dai Er Ke Za Zhi 2019 Oct;21(10):1016-1021

Pediatric Blood Diseases Centre, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin 300020, China.

Objective: To study the clinical features and gene mutation spectrum of children with sideroblastic anemia (SA) and the clinical value of targeted next-generation sequencing in the molecular diagnosis of children with SA.

Methods: Clinical data were collected from 36 children with SA. Targeted next-generation sequencing was used to detect mutations in SA-related pathogenic genes and genes associated with heme synthesis and mitochondrial iron metabolism. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7389731PMC
October 2019

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

Mol Genet Metab Rep 2019 Dec 16;21:100517. Epub 2019 Sep 16.

Departments of Psychiatry, Pediatrics and Human Genetics, The Intellectual and Developmental Disabilities Research Center, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.

Mitochondrial myopathy, lactic acidosis and sideroblastic anemia 1 (MLASA1) is a rare disease caused by biallelic pathogenic variants in the gene. There are eleven MLASA1 patients reported worldwide with the majority of the patients originating from the Shiraz region of Iran. The rarity of this disease poses challenges to counseling patients due to a lack of natural history data. Read More

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http://dx.doi.org/10.1016/j.ymgmr.2019.100517DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6796764PMC
December 2019
1 Read

[Diagnosis of anemia associated with alcoholic cirrhosis].

Rev Med Liege 2019 Oct;74(10):527-534

Service de Gastro-Entérologie et Hépatologie, CHU Liège, Belgique.

We report here the case of a 62-year-old patient with Child-Pugh stage C ethylic cirrhosis associated with severe macrocytic anaemia, refractory to iterative transfusions and withdrawal. After a haemorrhagic, deficiency-related, or sideroblastic etiology was ruled out, haemolytic anaemia was suspected. A blood smear allowed diagnosis of haemolytic anaemia with acanthocytes. Read More

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October 2019
2 Reads

Comparison of therapy-related myelodysplastic syndrome with ring sideroblasts and de novo myelodysplastic syndrome with ring sideroblasts.

Leuk Res 2019 11 17;86:106227. Epub 2019 Sep 17.

Department of Hematopathology, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA. Electronic address:

Presence of RS is closely associated with SF3B1 mutation in de novo MDS. RS is also present in a subset of therapy-related MDS (t-MDS), but data is not available in t-MDS with RS (t-MDS-RS). Using NGS gene panel, we assessed t-MDS-RS (n = 38) and compared the result with d-MDS-RS (n = 174). Read More

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http://dx.doi.org/10.1016/j.leukres.2019.106227DOI Listing
November 2019
1 Read
2.351 Impact Factor

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

SAGE Open Med Case Rep 2019 16;7:2050313X19876710. Epub 2019 Sep 16.

Division of Dermatology, Department of Medicine, McGill University Health Centre, Montreal, QC, Canada.

This is a 40-year-old woman with sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay syndrome, who has genital and extragenital lichen sclerosus on the abdomen and the upper back that have become erythematous and painful during febrile episodes. This report summarizes the published cases of sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay and highlights associated mucocutaneous features. Read More

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http://dx.doi.org/10.1177/2050313X19876710DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6747858PMC
September 2019
2 Reads

Reply to Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders.

Pediatr Blood Cancer 2019 12 18;66(12):e28007. Epub 2019 Sep 18.

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

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http://dx.doi.org/10.1002/pbc.28007DOI Listing
December 2019

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

Zhonghua Xue Ye Xue Za Zhi 2019 08;40(8):684

Shenzhen Hospital of Southern Medical University, Shenzhen 518100, China.

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http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2019.08.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7342873PMC
August 2019
1 Read

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

Hemoglobin 2019 Jul - Sep;43(4-5):229-235. Epub 2019 Sep 3.

State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Tianjin City, People's Republic of China.

As a type of congenital microcytic hypochromic anemia, thalassemia trait is often confused with other conditions, such as congenital sideroblastic anemia (CSA) and iron deficiency anemia, before a specific work-up is performed. However, these tests, including hemoglobin (Hb) electrophoresis, gene mutations and Prussian blue staining after bone marrow aspirate, are relatively expensive, time-consuming and invasive. To find labor-saving parameters to facilitate differential diagnosis, we retrospectively analyzed the routine blood indexes of 59 thalassemia trait cases [22 α-thalassemia (α-thal), 36 β-thalassemia (β-thal) and one α/β-thal], 21 CSA patients, and 238 iron deficiency anemia controls. Read More

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http://dx.doi.org/10.1080/03630269.2019.1655440DOI Listing
May 2020
6 Reads

Prevalence, characteristics, and predictors of tuberculosis associated anemia.

J Family Med Prim Care 2019 Jul;8(7):2445-2449

Senior Resident General Medicine, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, India.

Tuberculosis is an infectious disease caused by mycobacterium tuberculosis. It is one of the deadliest disease and a major burden on the healthcare system in India. India, a second most populous country in the world, has a very high global annual incidence of tuberculosis. Read More

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http://dx.doi.org/10.4103/jfmpc.jfmpc_311_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6691449PMC
July 2019
2 Reads

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

Mol Genet Metab 2019 11 31;128(3):309-313. Epub 2019 Jul 31.

University of Utah School of Medicine, Salt Lake City, UT, United States of America. Electronic address:

Erythropoietic protoporphyria (EPP), the most common porphyria of childhood and the third most common porphyria of adulthood, is characterized clinically by painful, non-blistering cutaneous photosensitivity. Two distinct inheritance patterns involving mutations affecting genes that encode enzymes of the heme biosynthetic pathway underlie the clinical phenotype. Aminolevulinic acid synthase 2 (ALAS2), the rate limiting enzyme of the heme pathway in the erythron, is a therapeutic target in EPP because inhibiting enzyme function would reduce downstream production of protoporphyrin IX (PPIX), preventing accumulation of the toxic molecule and thereby ameliorating symptoms. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10967192183057
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http://dx.doi.org/10.1016/j.ymgme.2019.07.017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6911826PMC
November 2019
5 Reads

Setting Fire to ESA and EMA Resistance: New Targeted Treatment Options in Lower Risk Myelodysplastic Syndromes.

Int J Mol Sci 2019 Aug 7;20(16). Epub 2019 Aug 7.

Medical Clinic and Policlinic 1, Hematology and Cellular Therapy, University Hospital Leipzig, 04103 Leipzig, Germany.

During the last decade, substantial advances have been made in the understanding of the complex molecular, immunological and cellular disturbances involved in the initiation as well as evolution of myelodysplastic syndromes (MDS). In 85% of the mainly frail and older patient population, anemia is present at the time of diagnosis and is thus a major therapeutic challenge. High rates of primary resistance to erythropoiesis-stimulating agents (ESAs), the currently only approved standard therapy to treat anemia in lower-risk MDS, demand the development of novel and efficient drugs with a good safety profile. Read More

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http://dx.doi.org/10.3390/ijms20163853DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6720617PMC
August 2019
4 Reads

Comment on: Sideroblastic anemia associated with multisystem mitochondrial disorders: The phenotypic spectrum of PUS1 and COX10 variants and mtDNA deletions needs to be prospectively assessed.

Authors:
Josef Finsterer

Pediatr Blood Cancer 2019 11 8;66(11):e27945. Epub 2019 Aug 8.

Krankenanstalt Rudolfstiftung, Messerli Institute, Vienna, Austria.

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http://dx.doi.org/10.1002/pbc.27945DOI Listing
November 2019
2 Reads

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

Br J Haematol 2019 11 23;187(4):530-542. Epub 2019 Jul 23.

CHU de Bordeaux, Hôpital Pellegrin, Bordeaux, France.

Congenital sideroblastic anaemia (CSA) is a rare disease caused by germline mutations of genes involved in haem and iron-sulphur cluster formation, and mitochondrial protein biosynthesis. We performed a retrospective multicentre European study of a cohort of childhood-onset CSA patients to explore genotype/phenotype correlations. We studied 23 females and 20 males with symptoms of CSA. Read More

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http://dx.doi.org/10.1111/bjh.16100DOI Listing
November 2019
6 Reads

Heme biosynthesis and the porphyrias.

Authors:
John D Phillips

Mol Genet Metab 2019 11 22;128(3):164-177. Epub 2019 Apr 22.

Division of Hematology, Department of Medicine, University of Utah School of Medicine, Salt Lake City, UT, United States of America. Electronic address:

Porphyrias, is a general term for a group of metabolic diseases that are genetic in nature. In each specific porphyria the activity of specific enzymes in the heme biosynthetic pathway is defective and leads to accumulation of pathway intermediates. Phenotypically, each disease leads to either neurologic and/or photocutaneous symptoms based on the metabolic intermediate that accumulates. Read More

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http://dx.doi.org/10.1016/j.ymgme.2019.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7252266PMC
November 2019
7 Reads

A coin crisis: a case report of pica with minireview.

Eat Weight Disord 2020 Aug 4;25(4):1125-1128. Epub 2019 Jul 4.

Hospital Magalhães Lemos, R. Prof. Álvaro Rodrigues, 4149-003, Porto, Portugal.

Background: Pica is defined as a feeding and eating disorder where there is consumption of nonnutritive substances not consistent with cultural practices or social norms. Its aetiology is still unknown, as its prevalence and optimal treatment, which seem to vary with patients' characteristics and the specific behaviours involved.

Objectives: The authors present a case report of pica treated with copper supplementation, with further diagnostic and treatment considerations. Read More

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http://dx.doi.org/10.1007/s40519-019-00739-zDOI Listing
August 2020
5 Reads

[Sideroblastic anemia].

Authors:
Tohru Fujiwara

Rinsho Ketsueki 2019 ;60(5):408-416

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

Sideroblastic anemia (SA) signifies a group of heterogeneous congenital and acquired disorders characterized by anemia and the presence of ring sideroblasts in the bone marrow. Congenital SA is a rare disease caused by mutations of genes involved in heme biosynthesis, iron-sulfur cluster biosynthesis, and mitochondrial protein synthesis. In addition, SA can occur after exposure to certain drugs or alcohol and because of copper deficiency (secondary SA). Read More

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http://dx.doi.org/10.11406/rinketsu.60.408DOI Listing
August 2019
4 Reads

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

Rev Med Interne 2019 Jul 25;40(7):462-465. Epub 2019 May 25.

Service de médecine interne et immunologie clinique, université de Rennes 1, CHU de Rennes, 35000 Rennes, France.

Introduction: Sideroblastic anemia is a rare cause of microcytic anemia, which is characterized by ring sideroblasts on bone marrow aspirate. This anemia can be congenital or acquired.

Case Report: We report the case of an alcoholic 49-year-old man who presented with a severe microcytic sideroblastic anemia related to pyridoxine (B6 vitamin) deficiency. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S02488663193049
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http://dx.doi.org/10.1016/j.revmed.2019.05.009DOI Listing
July 2019
9 Reads