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Hereditary pyropoikilocytosis resulting in artefactual thrombocytosis.
Br J Haematol
January 2025
Centre for Haematology, St Mary's Hospital Campus of Imperial College Faculty of Medicine, St Mary's Hospital, London, UK.
Placental Histopathologic Findings in Fetal Hereditary Pyropoikilocytosis after Undergoing Successful Intrauterine Transfusion.
Fetal Pediatr Pathol
May 2024
Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN, USA.
The available literature on intrauterine transfusion focuses largely on its application in fetal alloimmunization rather than hereditary red cell disorders, with limited illustration of its associated histopathologic findings. We present the histologic findings in a placenta associated with preterm delivery of an infant with autosomal mutation following multiple intrauterine transfusions, including appropriate villous maturation, subchorionic organizing hematomas, hemosiderin-laden macrophages, and dysmorphic fetal erythrocytes within villous capillaries. Intrauterine transfusion is associated with placental histologic findings that reflect procedural changes without significant disruption of placental membranes or villous maturation.
View Article and Find Full Text PDFHomozygous SPTA1-associated hereditary pyropoikilocytosis presenting as hydrops fetalis.
Transfusion
January 2024
Department of Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
Introduction: Hereditary pyropoikilocytosis (HPP) is a heterogeneous inherited disorder of red blood cell (RBC) membrane and cytoskeletal proteins that leads to hemolytic anemia. HPP is characterized by marked poikilocytosis, microspherocytes, RBC fragmentation, and elliptocytes on peripheral blood smear. Mutations in SPTA1 can cause HPP due to a quantitative defect in α-spectrin and can lead to profound fetal anemia and nonimmune hydrops fetalis, which can be managed with intrauterine transfusion.
View Article and Find Full Text PDFMolecular characteristics of hereditary red blood cell membrane disorders in Thailand: a multi-center registry.
Ann Hematol
February 2024
Thalassemia and Hematology Center, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.
Red blood cell (RBC) membrane disorders represent a significant category of hereditary hemolytic anemia; however, information from Southeast Asia is limited. We established a national registry aiming to characterize RBC membrane disorders and their molecular features in Thailand. A total of 100 patients (99 kindreds) diagnosed with RBC membrane disorders between 2011 and 2020 from seven university hospitals were enrolled.
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