A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia. [PDF]
Front PediatrBackground Congenital sideroblastic anemia (CSA) constitutes a group of inherited erythropoietic disorders. Some affect mainly or exclusively erythroid cells; other syndromic forms occur within multisystem disorders with extensive nonhematopoietic ...
Cai J +6 more
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ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia [PDF]
J Pers MedThe ATP-binding cassette (ABC) transporters are a vast group of 48 membrane proteins, some of which are of notable physiological and clinical importance.
Ogunbileje J +5 more
europepmc +2 more sources
A 9-year-old child presenting with anemia accompanied by abnormal red blood cell morphology [PDF]
Practical Laboratory MedicineCases of anemia presenting with abnormal erythrocyte morphology often pose diagnostic challenges, particularly in patients with refractory anemia. Here, we present the case of a 9-year-old male patient under investigation for anemia, who had a history of
Huijun Qin, Yuan He, Zaixiang Xie
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Severe isoniazid related sideroblastic anemia
Hematology Reports, 2011 Isoniazid induced sideroblastic anemia is a rare event. We report case of a 45 year old Caucasian women with development of severe anaemia 4 month after introduction of Isoniazid as part of Tuberculosis treatment.
Rein Jan Piso +2 more
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A RARE CAUSE OF SIDEROBLASTIC ANEMIA: TRNT1 MUTATION
Hematology, Transfusion and Cell Therapy, 2021 Case report: tRNA nucleotidyltransferase 1(TRNT1) gene encodes a polymerase involved in the maturation of cytosolic and mitochondrial transfer RNAs. Autosomal recessive loss of function mutations of TRNT1 leads sideroblastic anemia, immunodeficiency ...
Fatma Tuba YILDIRIM +3 more
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Erythropoiesis in health and disease: Distinguishing defective and ineffective erythropoiesis. [PDF]
HemasphereAbstract Erythropoiesis is a finely regulated process ensuring continuous red blood cell production to maintain oxygen delivery. Disruptions in this process give rise to defective erythropoiesis, characterized by impaired lineage commitment and progenitor development, and ineffective erythropoiesis (IE), marked by expansion of erythroid progenitors ...
El Hoss S +3 more
europepmc +2 more sources
Sideroblastic Anemia in a Young Woman Being Treated for Wilson Disease
Annals of Internal Medicine: Clinical Cases, 2023 D-penicillamine and zinc are both useful in the treatment of Wilson disease. Both drugs can cause pancytopenia by the direct toxic effect on the marrow or sideroblastic anemia caused by hyperzincemia-induced hypocupremia. Although serum copper levels are
Vivien Mak, Kate Leung, Wai-lim Yiu
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IARS2-related disease manifesting as sideroblastic anemia and hypoparathyroidism: A case report
Frontiers in Pediatrics, 2023 Background IARS2 (EC6.1.5) is a mitochondrial isoleucine-tRNA synthetase. Despite the fact that only fewer than 30 patients have been reported in the literature, mitochondrial disorders caused by pathogenic variants in the IARS2 gene (OMIM: 616007) have ...
Yan Gong, Xiaofang Lan, Sheng Guo
semanticscholar +1 more source
X-Linked Sideroblastic Anaemia Caused by Intronic <i>ALAS2</i> Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report. [PDF]
EJHaemABSTRACT X‐linked sideroblastic anaemia (XLSA) is a rare hereditary disorder caused by mutations in the ALAS2 gene, essential for haem biosynthesis. We report two male siblings, the first of whom developed severe microcytic hypochromic anaemia requiring regular transfusions, iron chelation and an allogeneic bone marrow transplant, while his brother ...
O'Connor J +4 more
europepmc +2 more sources