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Transient presence of stomatocytes: A clue to the diagnosis of overhydrated hereditary stomatocytosis in a child with beta-thalassemia.
J Clin Lab Anal
December 2023
Clinical Laboratory, Zhongshan Boai Hospital Affiliated to Southern Medical University, Zhongshan, Guangdong, China.
Background: Overhydrated hereditary stomatocytosis (OHSt) is a rare disorder characterized by abnormalities in erythrocytic volume homeostasis. Early and accurate diagnosis is essential for appropriate management and genetic counseling.
Methods: We present the case of a child with beta-thalassemia and a history of multiple blood transfusions.
Overhydrated hereditary stomatocytosis: A rare cause of familiar persistent macrocytosis due to SLC4A1 variants.
Pediatr Blood Cancer
April 2023
Pediatric Immunohematology and Bone Marrow Transplantation Unit, San Raffaele Telethon Institute for Gene Therapy (SR-Tiget), IRCCS San Raffaele Scientific Institute, Milan, Italy.
Mechanosensitive Pannexin 1 Activity Is Modulated by Stomatin in Human Red Blood Cells.
Int J Mol Sci
August 2022
Université Paris Cité and Université des Antilles, INSERM U1134, BIGR, F-75014 Paris, France.
Pannexin 1 (PANX1) was proposed to drive ATP release from red blood cells (RBCs) in response to stress conditions. Stomatin, a membrane protein regulating mechanosensitive channels, has been proposed to modulate PANX1 activity in non-erythroid cells. To determine whether stomatin modulates PANX1 activity in an erythroid context, we have (i) assessed the in situ stomatin-PANX1 interaction in RBCs, (ii) measured PANX1-stimulated activity in RBCs expressing stomatin or from OverHydrated Hereditary Stomatocytosis (OHSt) patients lacking stomatin, and in erythroid K562 cells invalidated for stomatin.
View Article and Find Full Text PDFReticulocyte Maturation and Variant Red Blood Cells.
Front Physiol
March 2022
Bristol Institute for Transfusion Sciences, NHS Blood and Transplant, Bristol, United Kingdom.
The bone marrow produces billions of reticulocytes daily. These reticulocytes mature into red blood cells by reducing their plasma membrane by 20% and ejecting or degrading residual internal organelles, membranes and proteins not required by the mature cell. This process occurs by autophagy, protein degradation and vesiculation but is not well understood.
View Article and Find Full Text PDFUltrastructural Changes of Blood Cells in Children with Generalized Purulent Peritonitis: A Cross-Sectional and Prospective Study.
Children (Basel)
October 2020
Department of Family Medicine and Community Nursing, Medical University of Lublin, PL-20-081 Lublin, Poland.
In conditions of abdominal sepsis with indications of first- or second-stage shock, blood cells undergo significant ultrastructural changes that cause impaired gas exchange, changes in reactivity, and decompensation of organs and systems functions. This paper presents a cross-sectional prospective study aimed at researching the ultrastructure of blood cells in children experiencing abdominal septic shock against the background of generalized purulent peritonitis of appendicular origin. This study was conducted with 15 children aged 6-12 who were undergoing treatment for generalized appendicular purulent peritonitis, with first- or second-stage abdominal septic shock, in emergency care.
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