2,452 results match your criteria Sideroblastic Anemia

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

Diagnostics (Basel) 2022 Jul 20;12(7). Epub 2022 Jul 20.

French-Speaking Cellular Hematology Group, 69500 Bron, France.

Ring sideroblasts are commonly seen in myelodysplastic neoplasms and are a key condition for identifying distinct entities of myelodysplastic neoplasms according to the WHO classification. However, the presence of ring sideroblasts is not exclusive to myelodysplastic neoplasms. Ring sideroblasts are as well either encountered in non-clonal secondary acquired disorders, such as exposure to toxic substances, drug/medicine, copper deficiency, zinc overload, lead poison, or hereditary sideroblastic anemias related to X-linked, autosomal, or mitochondrial mutations. Read More

View Article and Full-Text PDF

[Recent advances in the knowledge of sideroblastic anemia].

Tohru Fujiwara

Rinsho Ketsueki 2022 ;63(6):600-607

Laboratory Diagnostics, Tohoku University Hospital.

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

View Article and Full-Text PDF

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

Asahito Hama

Rinsho Ketsueki 2022 ;63(6):590-599

Department of Hematology and Oncology, Children's Medical Center, Japanese Red Cross Aichi Medical Center Nagoya First Hospital.

Diamond-Blackfan anemia (DBA), congenital dyserythropoietic anemia (CDA), and inherited sideroblastic anemia (ISA) are representative diseases of inherited bone marrow failure syndromes in erythrocyte diseases. DBA is primarily caused due to ribosomal dysfunctions. Furthermore, reticulocytes and erythroid progenitor cells decrease considerably within the peripheral blood and bone marrow, respectively. Read More

View Article and Full-Text PDF

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

Sci Rep 2022 05 30;12(1):9024. Epub 2022 May 30.

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

X-linked sideroblastic anemia (XLSA), the most common form of congenital sideroblastic anemia, is caused by a germline mutation in the erythroid-specific 5-aminolevulinate synthase (ALAS2) gene. In XLSA, defective heme biosynthesis leads to ring sideroblast formation because of excess mitochondrial iron accumulation. In this study, we introduced ALAS2 missense mutations on human umbilical cord blood-derived erythroblasts; hereafter, we refer to them as XLSA clones. Read More

View Article and Full-Text PDF

Vitamin B6 Deficiency Anemia Attributed to Levodopa/Carbidopa Intestinal Gel Therapy for Parkinson's Disease: A Diagnostic Pitfall for Myelodysplastic Syndrome with Ring Sideroblasts.

Intern Med 2022 May 14. Epub 2022 May 14.

Department of Hematology, Juntendo University School of Medicine, Japan.

Vitamin B6 (VB6) is essential to heme synthesis, and its deficiency can lead to anemia. VB6 deficiency anemia is typically microcytic, hypochromic, and sideroblastic. VB6 deficiency is a well-recognized complication of levodopa/carbidopa therapy, as metabolism of levodopa to dopamine is VB6-dependent, and carbidopa irreversibly forms bonds and deactivates VB6. Read More

View Article and Full-Text PDF

Clinical Application for Diagnosis of Myelodysplatic/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis.

Clin Lab 2022 Apr;68(4)

Background: Myelodysplastic/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/ MPN-RS-T) was newly introduced as a full entity in the 2016 revision of the WHO classification. In this study, we investigated the morphologic, laboratory, and clinical features of MDS/MPN-RS-T.

Methods: We reviewed the bone marrow and genetic studies of patients whose diagnoses were coded as "refractory anemia with ring sideroblasts (RARS)" or "MDS/MPN, unclassifiable" between January 2008 and April 2018. Read More

View Article and Full-Text PDF

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

Am J Med Genet A 2022 Jul 8;188(7):2226-2230. Epub 2022 Apr 8.

Department of Neurology, Royal North Shore Hospital, St Leonards, New South Wales, Australia.

Myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2) is an autosomal recessive mitochondrial disorder caused by pathogenic variants in YARS2. YARS2 variants confer heterogeneous phenotypes ranging from the full MLASA syndrome to a clinically unaffected state. Symptom onset is most common in the first decade of life but can occur in adulthood and has been reported following intercurrent illness. Read More

View Article and Full-Text PDF

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

Front Pediatr 2022 17;10:839775. Epub 2022 Mar 17.

Department of Pediatric Hematology/Oncology and Hematopoietic Stem Cell Transplantation (HSCT), Meyer Children's University Hospital, Florence, Italy.

Introduction: ε thalassemia is a rare form of β-thalassemia mostly described in children originating from Northern Europe. Only anecdotic cases from the Mediterranean area are reported. The diagnosis is challenging, considering the rarity of the disease and its heterogeneous clinical presentation. Read More

View Article and Full-Text PDF

RNA missplicing and ring sideroblasts in MDS.

Mario Cazzola

Blood 2022 03;139(13):1933-1935

University of Pavia.

View Article and Full-Text PDF

Myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis: Ringing in a new future.

Leuk Res 2022 04 7;115:106820. Epub 2022 Mar 7.

Division of Hematology and Medical Oncology, Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA. Electronic address:

Myelodysplastic syndrome/myeloproliferative neoplasm with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) is a rare hematologic malignancy belonging to the category of myelodysplastic syndrome (MDS)/myeloproliferative neoplasm (MPN) overlap syndromes. While certain clinical features, including anemia and thrombocytosis, are common to both the MDS and MPN disease components, the biologic consequences of the spliceosome mutation SF3B1 results in notable clinical exceptions. Importantly, both overall and leukemia free survival are shorter for MDS/MPN-RS-T when compared to essential thrombocythemia (ET). Read More

View Article and Full-Text PDF

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

Front Cell Dev Biol 2022 16;10:847045. Epub 2022 Feb 16.

Department of Biochemistry, New Biological Sciences Building, Indian Institute of Science, Bangalore, India.

Congenital Sideroblastic Anemias (CSA) is a group of rare genetic disorders characterized by the abnormal accumulation of iron in erythrocyte precursors. A common hallmark underlying these pathological conditions is mitochondrial dysfunction due to altered protein homeostasis, heme biosynthesis, and oxidative phosphorylation. A clinical study on congenital sideroblastic anemia has identified mutations in mitochondrial Hsp70 (mtHsp70/Mortalin). Read More

View Article and Full-Text PDF
February 2022

Development and characterization of cell models harbouring mtDNA deletions for in vitro study of Pearson syndrome.

Dis Model Mech 2022 03 1;15(3). Epub 2022 Mar 1.

Departamento de Bioquímica, Biología Molecular y Celular, Universidad de Zaragoza, 50013 Zaragoza, Spain.

Pearson syndrome is a rare multisystem disease caused by single large-scale mitochondrial DNA deletions (SLSMDs). The syndrome presents early in infancy and is mainly characterised by refractory sideroblastic anaemia. Prognosis is poor and treatment is supportive, thus the development of new models for the study of Pearson syndrome and new therapy strategies is essential. Read More

View Article and Full-Text PDF

Sideroblastic anaemia in a patient with sickle cell disease.

BMJ Case Rep 2022 Feb 8;15(2). Epub 2022 Feb 8.

Hematology/Oncology, MedStar Washington Hospital Center, Washington, DC, USA.

Sideroblastic anaemia is a rare condition. We report a unique case of concomitant sideroblastic anaemia in a patient with sickle cell disease with long-standing blood transfusion history. Due to a low prevalence of sideroblastic anaemia, the diagnosis of sideroblastic anaemia is often difficult, especially when coexisting with common types of anaemia, including sickle cell disease. Read More

View Article and Full-Text PDF
February 2022

Myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T): Mayo-Moffitt collaborative study of 158 patients.

Blood Cancer J 2022 02 1;12(2):26. Epub 2022 Feb 1.

Department of Malignant Hematology, H. Lee Moffitt Cancer Center, Tampa, FL, USA.

The current World Health Organization (WHO) classification of myeloid malignancies includes myelodysplastic/myeloproliferative neoplasms with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T) as a distinct entity. Previous literature on predictors of survival was based on the provisional category of refractory anemia with ring sideroblast and thrombocytosis (RARS-T), which was not subject to MDS/MPN-RS-T exclusionary criteria such as PB blast% ≥1, BM blast% ≥5 or cytogenetic abnormalities such as t(3;3)(q21.2;q26. Read More

View Article and Full-Text PDF
February 2022

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

J Biol Chem 2022 03 28;298(3):101643. Epub 2022 Jan 28.

Department of Biochemistry, Vanderbilt University School of Medicine, Nashville, Tennessee, USA; Center for Structural Biology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA. Electronic address:

Heme is a critical biomolecule that is synthesized in vivo by several organisms such as plants, animals, and bacteria. Reflecting the importance of this molecule, defects in heme biosynthesis underlie several blood disorders in humans. Aminolevulinic acid synthase (ALAS) initiates heme biosynthesis in α-proteobacteria and nonplant eukaryotes. Read More

View Article and Full-Text PDF

Seizures and sideroblastic anaemia in a patient with multidrug-resistant tuberculosis.

Lancet 2022 01;399(10322):393

Department of Pathology, Chettinad Hospital and Research Institute, Chettinad Academy of Research and Education, Kelambakkam, Chennai, India.

View Article and Full-Text PDF
January 2022

Bone marrow ring sideroblasts in hematological diseases: an analysis of consecutive 1300 samples in a single institution.

Int J Hematol 2022 Apr 22;115(4):508-514. Epub 2022 Jan 22.

Department of Hematology, Kitasato University School of Medicine, 1-15-1 Kitasato, Minami-ku, Sagamihara, Kanagawa, 252-0374, Japan.

The incidence of MDS-RS in Japan has been recognized as about 5% which is lower than that in European countries. Insufficient use of iron staining tests in Japan has been noted as one conceivable factor contributing to this apparently lower prevalence. To investigate this issue, we analyzed the proportion of ring sideroblasts (RS) in 1300 bone marrow samples from patients with hematological diseases at Kitasato University Hospital, including iron staining of all samples. Read More

View Article and Full-Text PDF

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

J Struct Biol 2022 03 15;214(1):107832. Epub 2022 Jan 15.

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

ATP-binding cassette subfamily B member 7 (ABCB7) is localized in the inner membrane of mitochondria, playing a critical role in iron metabolism. Here, we determined the structure of the nonhydrolyzable ATP analog adenosine-5'-(β-γ-imido) triphosphate (AMP-PNP) bound human ABCB7 at 3.3 Å by single-particle electron cryo-microscopy (cryo-EM). Read More

View Article and Full-Text PDF

Hereditary myopathies associated with hematological abnormalities.

Muscle Nerve 2022 04 5;65(4):374-390. Epub 2022 Jan 5.

Division of Neuromuscular Medicine, Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA.

The diagnostic evaluation of a patient with suspected hereditary muscle disease can be challenging. Clinicians rely largely on clinical history and examination features, with additional serological, electrodiagnostic, radiologic, histopathologic, and genetic investigations assisting in definitive diagnosis. Hematological testing is inexpensive and widely available, but frequently overlooked in the hereditary myopathy evaluation. Read More

View Article and Full-Text PDF

Ineffective erythropoiesis and its treatment.

Mario Cazzola

Blood 2021 Dec 21. Epub 2021 Dec 21.

University of Pavia, Pavia, Italy.

The erythroid marrow and circulating red blood cells (RBCs) are the key components of the human erythron. Abnormalities of the erythron that are responsible for anemia can be distinguished into 3 major categories, that is, erythroid hypoproliferation, ineffective erythropoiesis, and peripheral hemolysis. Ineffective erythropoiesis is characterized by erythropoietin-driven expansion of early-stage erythroid precursors, associated with apoptosis of late-stage precursors. Read More

View Article and Full-Text PDF
December 2021

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

BMC Med Genomics 2021 12 20;14(1):296. Epub 2021 Dec 20.

Guy's & St. Thomas' Hospital NHS Foundation Trust, Westminster Bridge Road, London, SE1 7EH, UK.

Background: X-linked sideroblastic anaemia (XLSA) is commonly due to mutations in the ALAS2 gene and predominantly affects hemizygous males. Heterozygous female carriers of the ALAS2 gene mutation are often asymptomatic or only mildly anaemic. XLSA is usually characterized by microcytic erythrocytes (reduced mean corpuscular volume (MCV)) and hypochromia, along with increased red cell distribution width. Read More

View Article and Full-Text PDF
December 2021

Acquired Hyperzincaemia Due to Zinc-Laden Denture Adhesives Leading to Hypocupraemia as a Cause of Neutropenia.

Eur J Case Rep Intern Med 2021 29;8(11):002983. Epub 2021 Nov 29.

Hematology/Oncology Division, Department of Internal Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas, United States.

Introduction: Copper deficiency or hypocupraemia is a rare cause of anaemia and neutropenia.

Case Description: We hereby present the case of a 34-year-old female with gastric bypass surgery who presented with neutropenic fever, abdominal pain and diarrhoea, later found to have extended-spectrum beta-lactamase resistant urinary tract infection and small bowel bacterial overgrowth syndrome, with her anaemia and neutropenia being caused by copper deficiency due to hyperzincaemia induced by using zinc denture adhesive cream.

Discussion: Various causes of copper deficiency have been recognized including, but not limited to, malnutrition, gastrectomy, gastric bypass surgery, protein-losing enteropathies (coeliac disease, tropical sprue), Wilson disease and Menkes syndrome. Read More

View Article and Full-Text PDF
November 2021

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

Int J Lab Hematol 2022 Feb 15;44(1):69-71. Epub 2021 Nov 15.

Department of Pathology, University of Utah Health, Salt Lake City, Utah, USA.

View Article and Full-Text PDF
February 2022

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

Blood Adv 2022 02;6(4):1100-1114

Department of Cell Growth and Differentiation, Center for iPS Cell Research and Application.

X-linked sideroblastic anemia (XLSA) is associated with mutations in the erythroid-specific δ-aminolevulinic acid synthase (ALAS2) gene. Treatment of XLSA is mainly supportive, except in patients who are pyridoxine responsive. Female XLSA often represents a late onset of severe anemia, mostly related to the acquired skewing of X chromosome inactivation. Read More

View Article and Full-Text PDF
February 2022

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

Respir Med Case Rep 2021 6;34:101543. Epub 2021 Nov 6.

Gilbert and Rose-Marie Chagoury School of Medicine and LAU Medical Center-Rizk Hospital, Department of Pediatrics, Lebanese American University, Beirut, Lebanon.

Background: COVID-19 disease has been associated with several cardiovascular complications that rarely occur in the acute phase of the disease.

Case Report: A 13-year-old pediatric patient with congenital sideroblastic anemia associated with YARS2 mutation presenting with COVID-19 infection and worsening pericardial effusion followed by a respiratory failure refractory to supplemental oxygen therapy leading to cardiac arrest.

Discussion: This case highlights the rapid deterioration that can occur in children with serious hematologic disorders in the context of COVID-19 especially when complicated with pericardial effusion. Read More

View Article and Full-Text PDF
November 2021

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

Orphanet J Rare Dis 2021 11 3;16(1):465. Epub 2021 Nov 3.

Department of Biochemical Genetics and Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Westmead, NSW, Australia.

Background: Identification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and prognostication. Bi-allelic pathogenic variants in the gene encoding GLRX5, a protein involved in the early steps of Fe-S cluster biogenesis, are rare and cause two distinct phenotypes: isolated sideroblastic anemia and a neurological phenotype with variant non-ketotic hyperglycinemia. In this study, we analysed the evolution of clinical and MRI findings and long-term outcome of patients with GLRX5 mutations. Read More

View Article and Full-Text PDF
November 2021