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Sideroblasts, Siderocytes, and Sideroblastic Anemia [PDF]

open access: possibleNew England Journal of Medicine, 1975
SMALL iron-containing granules, demonstrable by means of the Prussian blue reaction, have been recognized in erythrocytes and their precursors for at least 30 years.1 2 3 4 5 Only recently, through the use of electron microscopy,6 7 8 have two distinct series of iron-containing erythroid cells been distinguished: one in which the iron consists of ...
Andrew Deiss, G E Cartwright
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Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation

Annals of Human Genetics, 2023
Introduction: Congenital sideroblastic anemias (CSAs) are a group of inherited bone‐marrow disorders manifesting with erythroid hyperplasia and ineffective erythropoiesis.
M. Salam   +8 more
semanticscholar   +1 more source

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

Experimental and Clinical Transplantation, 2023
Congenital sideroblastic anemia is characterized by anemia and intramitochondrial iron accumulation in erythroid precursors that form ring sideroblasts. The most common recessive forms are caused by sequence variations in the ALAS2 and SLC25A38 genes. In
B. Shamsian   +8 more
semanticscholar   +1 more source

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

Pediatric Allergy, Immunology, and Pulmonology, 2022
Introduction: Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay (SIFD) syndrome is caused by biallelic TRNT1 mutations. TRNT1 gene encodes a CCA-adding tRNA nucleotidyl transferase enzyme. Mutant TRNT1 results in
Rabia Miray Kışla Ekinci   +3 more
semanticscholar   +1 more source

Sideroblastic Anemia

Hematology/Oncology Clinics of North America, 2014
Sideroblastic anemias (SAs) may be acquired or congenital and share the features of disrupted utilization of iron in the erythroblast, ineffective erythropoiesis, and variable systemic iron overload. Congenital forms can have associated syndromic features or be nonsyndromic, and many of them have mutations in genes encoding proteins involved in heme ...
Mark D. Fleming, Sylvia S. Bottomley
openaire   +3 more sources

[Recent advances in the knowledge of sideroblastic anemia].

[Rinsho ketsueki] The Japanese journal of clinical hematology, 2022
Sideroblastic anemias (SAs) are a group of heterogeneous congenital and acquired disorders characterized by anemia and presence of ring sideroblasts in the bone marrow.
T. Fujiwara
semanticscholar   +1 more source

Treatment of Acquired Sideroblastic Anemias

Hematology/Oncology Clinics of North America, 2020
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
Abhishek A. Mangaonkar   +1 more
openaire   +3 more sources

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