Results 21 to 30 of about 158,381 (194)
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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Case Report: A Previously Healthy Young Woman With Lethal, Unremitting Metabolic Acidosis: Could a Novel Variant in <i>ALAS2</i> Be the Culprit? [PDF]
Case Rep PatholBackground Heme synthesis is critical for several biological processes, including mitochondrial energy production and oxygen delivery via hemoglobin. The initial and rate‐limiting step in heme synthesis is the conjugation of glycine with succinyl‐CoA to form 5‐aminolevulinic acid (ALA), which is catalyzed by two closely related enzymes that are coded ...
Brown G, Brown S.
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Recurrent sideroblastic anemia during pregnancy
Clinical Case Reports, 2023 Sideroblastic anemia is a heterogeneous group of disorders typified by the presence of ring sideroblasts in the bone marrow and has congenital and acquired types. Sideroblastic anemia is a rare event in pregnancy. We report a case of a 32‐year‐old female
Shehab Mohamed +9 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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A rare case of isoniazid induced sideroblastic anemia [PDF]
, 2023 Sideroblastic anemia is a rare cause of anemia. Most of it accounts for the genetic cause, while drug induced is still uncommon. Our patient, a 20 year old female, is a known case of right frontal tuberculoma on ATT presented with complaints of ...
Gulati, Shipra +3 more
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Double Heterozygous CDAN1 Variants of Uncertain Significance Associated With a Phenotype Consistent With Congenital Dyserythropoietic Anemia Type 1. [PDF]
Case Rep HematolCongenital dyserythropoietic anemia is a group of hereditary disorders characterized by erythroid hyperplasia and ineffective erythropoiesis, resulting in anemia of varying severity. Congenital dyserythropoietic anemia Type 1 (CDA‐1) is classically associated with biallelic mutations in the CDAN1 gene.
Zablonski KG +3 more
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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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BMC Medical Genomics, 2021 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).
Jinbo Huang +9 more
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Severe Folate Deficiency Mimicking Myelodysplastic Syndrome/Acute Myeloid Leukemia: A Case Report. [PDF]
Case Rep HematolFolate deficiency is common and often asymptomatic, but severe cases can cause megaloblastic anemia. Rarely, it presents with pancytopenia and bone marrow changes resembling myelodysplastic syndrome/neoplasm (MDS) and/or acute myeloid leukemia (AML), complicating diagnosis and management. We present a case of a patient with severe folate deficiency, in
Potter S, Williams M, Hanley TM.
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