2,408 results match your criteria Sideroblastic Anemia

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.

Clin Chim Acta 2021 Jul 23. Epub 2021 Jul 23.

Department of Rheumatology and Immunology, Anhui Provincial Children's Hospital. Electronic address:

Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome is a serious autosomal recessive genetic disease. So far, fewer than 40 cases have been reported worldwide, and only one case has been reported in China. The main clinical features of SIFD are sideroblastic or microcytic anemia, immune deficiency, and recurrent episodes of inflammation. Read More

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SLC25A38 Congenital Sideroblastic Anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature.

Hum Mutat 2021 Jul 23. Epub 2021 Jul 23.

Department of Pathology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.

The congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders of erythropoiesis characterized by pathologic deposits of iron in the mitochondria of developing erythroblasts. Mutations in the mitochondrial glycine carrier SLC25A38 cause the most common recessive form of CSA. Nonetheless, the disease is still rare, there being fewer than 70 reported families. Read More

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

PLoS One 2021 20;16(7):e0254851. Epub 2021 Jul 20.

Translational Metabolic Laboratory, Department of Laboratory Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.

Erythroferrone (ERFE), the erythroid regulator of iron metabolism, inhibits hepcidin to increase iron availability for erythropoiesis. ERFE plays a pathological role during ineffective erythropoiesis as occurs in X-linked sideroblastic anemia (XLSA) and β-thalassemia. Its measurement might serve as an indicator of severity for these diseases. Read More

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

Signal Transduct Target Ther 2021 Jul 2;6(1):248. Epub 2021 Jul 2.

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology & Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Tianjin, China.

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Pernicious anemia: Pathophysiology and diagnostic difficulties.

J Evid Based Med 2021 May 20;14(2):161-169. Epub 2021 May 20.

Section of Benign Hematology, The University of Texas MD Anderson Cancer Center, Houston, USA.

Pernicious anemia (PA) is the most common cause of vitamin B12 (cobalamin) deficiency anemia in the world. It is an autoimmune disease, comprising of salient features of autoimmune chronic atrophic gastritis (CAG) and cobalamin deficiency (CD). Although the anemia was first described as pernicious, it may well be controlled with vitamin B12 replacement. Read More

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

Front Immunol 2021 14;12:586320. Epub 2021 Apr 14.

Clinical Immunology and Allergy, School of Medicine, University of São Paulo, São Paulo, Brazil.

Since the first description of the syndrome of sideroblastic anemia with immunodeficiency, fevers and development delay (SIFD), clinical pictures lacking both neurological and hematological manifestations have been reported. Moreover, prominent skin involvement, such as with relapsing erythema nodosum, is not a common finding. Up to this moment, no genotype and phenotype correlation could be done, but mild phenotypes seem to be located in the N or C part. Read More

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

BMC Med Genomics 2021 Apr 15;14(1):107. Epub 2021 Apr 15.

State Key Laboratory of Experimental Hematology, National Clinical Research Center for Blood Diseases, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Science and Peking Union Medical College, 288 Nanjing Road, Tianjin, 300020, People's Republic of China.

Background: X-linked sideroblastic anemia (XLSA) is the most common form of congenital sideroblastic anemia (CSA), and is associated with the mutations in the 5-aminolevulinate synthase 2 (ALAS2). The genetic basis of more than 40% of CSA cases remains unknown.

Methods: A two-generation Chinese family with XLSA was studied by next-generation sequencing to identify the underlying CSA-related mutations. Read More

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A Novel Homozygous TRNT1 Mutation in a Child With an Early Diagnosis of Common Variable Immunodeficiency Leading to Mild Hypogammaglobulinemia and Hemolytic Anemia.

J Pediatr Hematol Oncol 2021 Apr 9. Epub 2021 Apr 9.

Departments of Pediatrics Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.

Although sideroblastic anemias (SAs) may be associated with different etiologies, deterioration of mitochondrial heme biosynthesis in bone marrow erythroid cells is a general abnormality. Congenital SA associated with immunodeficiency, periodic fever, and developmental delay is because of loss-of-function mutations in the TRNT1 gene. We report a patient with a novel homozygous mutation in the TRNT1 gene presenting with anemia with siderocytes, hypogammaglobulinemia, hepatosplenomegaly, and brittle hair but without periodic fever or developmental delay. Read More

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

Genet Test Mol Biomarkers 2021 Mar;25(3):218-226

Dow Research Institute of Biotechnology and Biomedical Sciences, Dow University of Health Sciences, Karachi, Pakistan.

Muscular dystrophies are a heterogeneous group of inherited disorders that cannot be diagnosed clinically due to overlapping clinical phenotypes. Whole-exome sequencing is considered as the diagnostic strategy of choice in these cases. In this study we aimed to determine the mutational spectrum of multiplex ligation-dependent probe amplification (MLPA)-negative muscular dystrophy patients in Pakistan using whole-exome sequencing. Read More

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

Metallomics 2021 04;13(4)

Department of Chemistry and Biochemistry, The Ohio State University, 100 West 18th Avenue, Columbus, OH 43210, USA.

Iron-sulfur (Fe-S) cluster biosynthesis involves the action of a variety of functionally distinct proteins, most of which are evolutionarily conserved. Mutations in these Fe-S scaffold and trafficking proteins can cause diseases such as multiple mitochondrial dysfunctions syndrome (MMDS), sideroblastic anemia, and mitochondrial encephalopathy. Herein, we investigate the effect of Ile67Asn substitution in the BOLA3 protein that results in the MMDS2 phenotype. Read More

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

Protein Expr Purif 2021 Jul 6;183:105860. Epub 2021 Mar 6.

State Key Laboratory of Medicinal Chemical Biology and College of Life Sciences, Nankai University, Tianjin, 300350, China. Electronic address:

The ATP-binding cassette sub-family B member 7 (ABCB7) is a membrane transport protein located on the inner membrane of mitochondria, which could be involved in the transport of heme from the mitochondria to the cytosol. ABCB7 also plays a central role in the maturation of cytosolic iron-sulfur (Fe/S) cluster-containing proteins, and mutations can cause a series of mitochondrial defects. X-linked sideroblastic anemia and ataxia (XLSA-A) is a rare cause of early onset ataxia, which may be overlooked due to the usually mild asymptomatic anemia. Read More

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Identification of circular RNAs as novel biomarkers and potentially functional competing endogenous RNA network for myelodysplastic syndrome patients.

Cancer Sci 2021 May 10;112(5):1888-1898. Epub 2021 Mar 10.

Department of Hematology, Huashan Hospital of Fudan University, Shanghai, China.

Circular RNAs (circRNAs) have been identified to exert vital biological functions and can be used as new biomarkers in a number of tumors. However, little is known about the functions of circRNAs in myelodysplastic syndrome (MDS). Here, we aimed to investigate circRNA expression profiles and to investigate the functional and clinical value of circRNAs in MDS. Read More

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

Ann Biol Clin (Paris) 2021 Feb;79(1):69-74

Service de médecine interne, Centre hospitalier de Royan, Vaux-sur-Mer, GCS de Saintonge, Centre hospitaliers de Saint-Jean-d'Angély, Saintes et Royan, Saint-Jean-d'Angély.

Sideroblastic anemias in adults are often quickly labeled as myelodysplasias. We report two unfrequent observations of secondary acquired forms. The first one is a 15-year-old girl presented with severe cytopenias. Read More

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February 2021

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

Biochim Biophys Acta Mol Basis Dis 2021 May 29;1867(5):166096. Epub 2021 Jan 29.

Key Laboratory of Molecular Biophysics of Ministry of Education, College of Life Science and Technology, Center for Human Genome Research, Huazhong University of Science and Technology, Wuhan, China. Electronic address:

Previous reports revealed that mutation of mitochondrial inner-membrane located protein SFXN1 led to pleiotropic hematological and skeletal defects in mice, associated with the presence of hypochromic erythroid cell, iron overload in mitochondrion of erythroblast and the development of sideroblastic anemia (SA). However, the potential role of sfxn1 during erythrocyte differentiation and the development of anemia, especially the pathological molecular mechanism still remains elusive. In this study, the correlation between sfxn1 and erythroid cell development is explored through zebrafish in vivo coupled with human hematopoietic cells assay ex vivo. Read More

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Sideroblastic anaemia, immunodeficiency, periodic fevers and developmental delay (SIFD) presenting as systemic inflammation with arthritis.

Rheumatology (Oxford) 2021 Jul;60(7):e234-e236

Paediatric Immunology and Infectious Diseases Service, Bristol Royal Hospital for Children & Bristol Children's Vaccine Centre, Schools of Cellular and Molecular Medicine Population Health Sciences, University of Bristol, Bristol, UK.

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

Future Cardiol 2021 Jan 19. Epub 2021 Jan 19.

Pediatric Cardiology, University of Minnesota/Masonic Children's Hospital, MN 55454, USA.

In the pediatric population, conventional transvenous and epicardial pacemaker systems carry complications such as lead distortion due to growth/activity, in addition to other lead/pocket complications. A retrospective review of pediatric leadless pacing at the University of Minnesota Masonic Children's Hospital from 2018 to 2020 was performed. Rationale for pacing, demographics of patients, thresholds and longevity of devices were recorded. Read More

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January 2021

Myelodysplastic syndromes with ring sideroblasts (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T) - "2021 update on diagnosis, risk-stratification, and management".

Am J Hematol 2021 03 28;96(3):379-394. Epub 2021 Jan 28.

Division of Hematology, Department of Internal Medicine, Mayo Clinic, Rochester, Minnesota.

Disease Overview: Ring sideroblasts (RS) are erythroid precursors with abnormal perinuclear mitochondrial iron accumulation. Two myeloid neoplasms defined by the presence of RS, include myelodysplastic syndromes with RS (MDS-RS) and MDS/myeloproliferative neoplasm with RS and thrombocytosis (MDS/MPN-RS-T).

Diagnosis: MDS-RS is a lower risk MDS, with single or multilineage dysplasia (MDS-RS-SLD/MLD), <5% bone marrow (BM) blasts, <1% peripheral blood blasts and ≥15% BM RS (≥5% in the presence of SF3B1 mutations). Read More

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Neutrophilic dermatosis: a new skin manifestation and novel pathogenic variant in a rare autoinflammatory disease.

Australas J Dermatol 2021 May 17;62(2):e276-e279. Epub 2020 Dec 17.

Clinical Immunology, Faculdade de Medicina, Centro Universitario Saude ABC, Sao Paulo, Brazil.

Sideroblastic anaemia, B-cell immunodeficiency, periodic fever and developmental delay (SIFD) is caused by mutations of TRNT1, an enzyme essential for mitochondrial protein synthesis, and has been reported in 23 cases. A 6-month-old girl was evaluated with recurrent fever, failure to thrive, skin lesions and anaemia. She received blood transfusions and empirical antibiotics. Read More

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Biallelic IARS2 mutations presenting as sideroblastic anemia.

Haematologica 2021 04 1;106(4):1220-1225. Epub 2021 Apr 1.

Federation of Medical Genetics and Reference Center for Mitochondrial Diseases (CARAMMEL), Hospital Necker - Enfants Malades, Paris, France; Metabolic Clinic, Women's and Children's Hospital, North Adelaide, South Australia; Laboratory for Genetics of Mitochondrial Disorders, UMR 1163, Université de Paris, Institut Imagine, Paris.

Not available. Read More

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Mitochondrial iron metabolism and its role in diseases.

Clin Chim Acta 2021 Feb 9;513:6-12. Epub 2020 Dec 9.

Institute of Pharmacy and Pharmacology, Learning Key Laboratory for Pharmacoproteomics, Hunan Province Cooperative Innovation Center for Molecular Target New Drug Study, University of South China, Hengyang 421001, China. Electronic address:

Iron is one of the most important elements for life, but excess iron is toxic. Intracellularly, mitochondria are the center of iron utilization requiring sufficient amounts to maintain normal physiologic function. Accordingly, disruption of iron homeostasis could seriously impact mitochondrial function leading to impaired energy state and potential disease development. Read More

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February 2021

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

Front Physiol 2020 12;11:581386. Epub 2020 Nov 12.

Section of Internal Medicine, Department of Medicine, University of Verona, Verona, Italy.

Iron loading anemias are characterized by ineffective erythropoiesis and iron overload. The prototype is non-transfusion dependent ß-thalassemia (NTDT), with other entities including congenital sideroblastic anemias, congenital dyserythropoietic anemias, some hemolytic anemias, and myelodysplastic syndromes. Differential diagnosis of iron loading anemias may be challenging due to heterogeneous genotype and phenotype. Read More

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November 2020

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

Haematologica 2020 12 1;105(12):2883-2886. Epub 2020 Dec 1.

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

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December 2020

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

Pediatr Blood Cancer 2021 02 16;68(2):e28799. Epub 2020 Nov 16.

Department of Pediatrics, St. Luke's International Hospital, Tokyo, Japan.

Pearson syndrome (PS) is a very rare and often fatal multisystem disease caused by deletions in mitochondrial DNA that result in sideroblastic anemia, vacuolization of marrow precursors, and pancreatic dysfunction. Spontaneous recovery from anemia is often observed within several years of diagnosis. We present the case of a 4-month-old male diagnosed with PS who experienced prolonged severe pancytopenia preceding the emergence of monosomy 7. Read More

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February 2021

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

Arch Biochem Biophys 2021 01 3;697:108661. Epub 2020 Nov 3.

The Ohio State University Biophysics Program, The Ohio State University, 484 West 12thAvenue, Columbus, OH, 43210, United States; Department of Chemistry and Biochemistry, The Ohio State University, 100 West 18th Avenue, Columbus, OH, 43210, United States. Electronic address: https://chemistry.osu.edu/people/cowan.2.

Iron-sulfur cluster proteins play key roles in a multitude of cellular processes. Iron-sulfur cofactors are assembled primarily in mitochondria and are then exported to the cytosol by use of an ABCB7 transporter. It has been shown that the yeast mitochondrial transporter Atm1 can export glutathione-coordinated iron-sulfur clusters, [2Fe-2S](SG), providing a source of cluster units for cytosolic iron-sulfur cluster assembly systems. Read More

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January 2021

Heavy metal.

Blood 2020 10;136(17):1993

Centre Hospitalier Universitaire Vaudois.

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October 2020

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

J Blood Med 2020 25;11:305-318. Epub 2020 Sep 25.

Division of Hematology and Oncology, Department of Medicine, Weill Cornell Medicine, New York Presbyterian Hospital, New York, NY, USA.

Sideroblastic anemia (SA) consists of a group of inherited and acquired anemias of ineffective erythropoiesis characterized by the accumulation of ring sideroblasts in the bone marrow due to disrupted heme biosynthesis. Congenital sideroblastic anemia (CSA) is rare and has three modes of inheritance: X-linked (XLSA), autosomal recessive (ARCSA), and maternal. Acquired SA is more common and can be a result of myelodysplastic syndromes (MDS) or other, generally reversible causes. Read More

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September 2020

Vitamin B deficiency influences increased formation of ring sideroblasts in pre-myelodysplastic syndromes.

Geriatr Gerontol Int 2020 Nov 30;20(11):1092-1093. Epub 2020 Sep 30.

Department of Hematology, Sapporo Hokuyu Hospital, Sapporo, Japan.

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November 2020

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

Clin Case Rep 2020 Sep 28;8(9):1666-1671. Epub 2020 May 28.

Montgomery Cancer Center Prattville AL USA.

Hypocupremia due to zinc products can cause sideroblastic anemia and neutropenia and mimics other serious hematological disorders. Early consideration of the copper deficiency and a thorough clinical history can prevent unnecessary interventions. Read More

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September 2020