Sideroblastic Anemia

10/10/1981 - "The findings show that the therapeutic efficacy of pyridoxin in primary sideroblastic anemia is due to its effect on defective ALAS. "
06/01/2003 - "The diagnosis of sideroblastic anemia was established by the presence of ringed sideroblasts in the bone marrow, and treatment with oral pyridoxine completely eliminated the ringed sideroblasts. "
01/01/2023 - "In patients with transfusion-dependent and pyridoxine- resistant severe congenital sideroblastic anemia, hematopoietic stem celltransplantis the only curative option. "
10/01/1999 - "A novel mutation of the erythroid-specific gamma-Aminolevulinate synthase gene in a patient with non-inherited pyridoxine-responsive sideroblastic anemia."
08/01/1999 - "[An infant case of sideroblastic anemia that responded to oral pyridoxine]."

07/01/1990 - "Further study is necessary to confirm the staining mechanism, to elucidate the composition of iron deposits, and to explain the pathophysiology of sideroblastic anemia."
11/01/2021 - "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. "
01/01/2020 - "Ring sideroblasts show abnormal mitochondrial iron accumulation, and their emergence in the bone marrow is a characteristic of sideroblastic anemias (SAs). "
01/01/2020 - "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. "
01/01/2019 - "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. "

01/01/2016 - "Given the tolerability of glycine and folate in humans, this study points to a potential novel treatment for SLC25A38 congenital sideroblastic anemia. "
01/01/2016 - "Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia."
01/01/2016 - "Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia."
04/01/2016 - "The mutation resulting in a substitution of a highly conserved glycine to serine in position 682 is apparently a major causative factor of the cerebellar hypoplasia/atrophy found in affected individuals of a Buryat family who had no evidence of sideroblastic anemia. "
10/01/2016 - "Importantly, this glycine-restricted anemia provides no feedback signal for increased systemic iron acquisition and the effects reported are pathogenetically distinct from systemic iron-overload anemias and erythropoietic disorders such as acquired sideroblastic anemia."

12/01/1980 - "Reversible ineffective erythropoiesis due to sideroblastic anemia, often but not invariably in association with folate deficiency, is also common. "
07/01/2019 - "Multiple hematological changes have been reported in patients with tuberculosis such as iron deficiency anemia, folate deficiency, and sideroblastic anemia. "
01/01/2016 - "Given the tolerability of glycine and folate in humans, this study points to a potential novel treatment for SLC25A38 congenital sideroblastic anemia. "
01/01/2016 - "Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia."
01/01/2016 - "Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia."

03/01/2003 - "Mitochondrial ferritin expression in erythroid cells from patients with sideroblastic anemia."
11/01/1978 - "Because it is rapid and permits localization of ferritin-containing cytoplasmic inclusions, the reaction may be useful in the assessment of sideroblastic anemias."
01/01/2008 - "Acquired sideroblastic anemia with unilineage dysplasia (WHO RARS) is a clonal stem cell disorder characterized by erythroid dysplasia, mitochondrial accumulation of mitochondrial ferritin, defective erythroid maturation and anemia. "
07/01/2012 - "Ferritin is directly implicated in less common but potentially devastating human diseases including sideroblastic anemias, neurodegenerative disorders, and hemophagocytic syndrome. "
05/01/2009 - "Ferritin is directly implicated in less common but potentially devastating human diseases including sideroblastic anemias, neurodegenerative disorders, and hemophagocytic syndrome. "

01/01/1984 - "A patient with well-differentiated lymphocytic lymphoma in remission presented with renal failure, sideroblastic anemia, and an acquired diminution in the expression of A antigen on his red cells. "
04/01/1989 - "A genetic association between human leucocytic antigen-linked hemochromatosis and idiopathic refractory sideroblastic anemia has been suggested that may predispose some patients with idiopathic refractory sideroblastic anemia to develop gross iron overload. "
04/01/1989 - "Study of the family of a patient with idiopathic refractory sideroblastic anemia and hemochromatosis revealed that 2 of 5 first-degree relatives had significant elevations of serum ferritin, and a shared human leucocytic antigen haplotype, supporting the concept that patients with idiopathic refractory sideroblastic anemia and significant iron overload have at least one allele for hemochromatosis."

02/01/2019 - "Congenital sideroblastic anemia (CSA) is a rare hereditary disease causing disorders of hemoglobin synthesis. "
08/01/1999 - "The patient was given a diagnosis of sideroblastic anemia and responded to oral pyridoxine (50 mg/day) with an immediate increase of reticulocytes to 97/1000, resulting in an improved hemoglobin concentration. "
01/23/2004 - "Hemoglobin levels steadily increased, so the diagnosis of pyridoxine-responsive sideroblastic anemia was made. "
04/01/1993 - "His grandfather's sideroblastic anemia has been found to be responsive to pyridoxine; his mother's hemoglobin has persisted in the normal range but red cell volume distribution analysis demonstrated two subpopulations; 30% with estimated geometric mean of 68 fl and 70% an estimated mean of 93 fl. "
02/29/1984 - "Refractory and sideroblastic anemias are heterogenous syndromes which are characterized by a hyperblastic bone marrow with dyserythropoietic features and disturbances in iron- and hemoglobin metabolism. "

01/01/1998 - "In the last patient with ringed sideroblasts despite complete remission with disappearance of tumoral cells in the bone marrow as demonstrated by immunohistochemical analysis of trephine bone marrow biopsy with monoclonal antibody DBA 44 the condition deteriorated, RDW remained unchanged, the sideroblastic anemia progressed."

05/01/1991 - "Sporadic cases of sideroblastic anemia may represent mitochondrial mutations either at the germ cell or the somatic cell, and the most sensitive strategy of screening for both would be the study of mitochondrial DNA from circulating erythrocytes. "
03/15/2004 - "Functional relevant mutations of mitochondrial DNA (mtDNA) have been related to sideroblastic anemia and MDS. "
09/01/1997 - "Sideroblastic anemia associated with vacuolization of haemopoietic precursors can be observed in some constitutional diseases associated with mitochondrial DNA deletion. "
07/01/1997 - "A whole spectrum of disease forms, ranging from isolated sideroblastic anemia to combined Pearson and KSS, are associated with deletions of mtDNA. "
12/01/1993 - "Is acquired idiopathic sideroblastic anemia (AISA) a disorder of mitochondrial DNA?"

06/05/1986 - "Patients with sideroblastic anemia invariably had cells with a normal or high DNA content; none of these patients died during the study. "
09/01/1997 - "Haemopoiesis is polyclonal, without abnormality of nuclear DNA differing from the acquired idiopathic sideroblastic anemias which arise from a clonal transformed stem cell. "
01/22/2001 - "We report on a seven-year-old Japanese boy with Pearson syndrome, which is characterized by refractory sideroblastic anemia with vacuolization of marrow precursors and dysfunction of the exocrine pancreas, and caused by mitochondrial (mt) DNA deletions and duplications. "
06/01/2011 - "In three European diagnostic laboratories sequence analysis of SLC25A38 was performed on DNA from patients affected by congenital sideroblastic anemia of a non-syndromic nature not caused by variations in the 5-aminolevulinate synthase 2 gene. "

04/16/2001 - "Such therapy may prove useful in treatment of human disorders such as sideroblastic anemia, which SOD2 deficiency most closely resembles."
09/01/1979 - "Antibody-mediated acquired sideroblastic anemia: response to cytotoxic therapy."
11/01/2008 - "[Sideroblastic anemia after prolonged linezolid therapy]."
01/01/1987 - "Danazol therapy in acquired idiopathic sideroblastic anemia."
11/01/1981 - "Sideroblastic anemia associated with penicillamine therapy."

05/01/1980 - "Sideroblastic anemia after treatment for Hogdkin's disease was seen in two patients 3 years after completion of radiation therapy and chemotherapy. "
01/15/1982 - "One patient, after a prodrome of macrocytic sideroblastic anemia, leukopenia, and thrombocytopenia, experienced erythroleukemia 34 months after starting chemotherapy, and cytogenetic studies revealed extensive chromosomal abnormalities. "

11/01/1975 - "Splenectomy for treatment of a sideroblastic anemia probable is contraindicated. "
11/01/1975 - "A man with sideroblastic anemia had a splenectomy because of a salmonella abscess of the spleen that had ruptured into the colon. "
11/01/1975 - "Sideroblastic anemia with splenic abscess and fatal thromboemboli after splenectomy."
11/01/1975 - "A review of the literature showed multiple additional cases of sideroblastic anemia with thrombocytosis and thromboembolism after splenectomy. "
03/01/2010 - "Patients undergoing splenectomy due to trauma, immune thrombocytopenia, sideroblastic anemia, extra hepatic portal hypertension, autoimmune hemolytic anemia did not show PAH after splenectomy even years after the procedure PAH following splenectomy is common after certain disorders and control patients with these diseases have tendency to develop PAH even without splenectomy. "

05/01/1980 - "Sideroblastic anemia after treatment for Hogdkin's disease was seen in two patients 3 years after completion of radiation therapy and chemotherapy. "
07/01/1974 - "[Sideroblastic anemia after treatment with isoniazid (Nidrazid)]."
01/01/1987 - "We report two more cases, one with anemia of chronic disease and another with alcoholic sideroblastic anemia where the hemoglobin H was not detected at presentation and appeared after treatment of the underlying disorder. "

09/01/2018 - "Reduced-toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia."
06/01/2003 - "Nonmyeloablative allogeneic hematopoietic stem cell transplantation for congenital sideroblastic anemia."