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Molecular insights into hereditary elliptocytosis and pyropoikilocytosis: NGS uncovers multiple potential candidate genes.
Ann Hematol
September 2023
Department of Pathology, Blood Bank and Laboratory Medicine, King Hamad University Hospital, Manama, Kingdom of Bahrain.
Hereditary elliptocytosis (HE) and pyropoikilocytosis (HPP) are considered a group of hemolytic anemias (HE/HPP) due to inherited abnormalities of erythrocyte membrane proteins with a worldwide distribution. Most cases are associated with molecular abnormalities linked to spectrin, band 4.1, and ankyrin.
View Article and Find Full Text PDFA large family of hereditary spherocytosis and a rare case of hereditary elliptocytosis with a novel SPTA1 mutation underdiagnosed in Taiwan: A case report and literature review.
Medicine (Baltimore)
January 2023
Division of Hematology-Oncology, Changhua Christian Hospital, Changhua City, Taiwan.
Rationale: Hereditary spherocytosis (HS) has a defect in the vertically connected proteins on the cell membrane of red blood cells (RBC). Hereditary elliptocytosis (HE) has a defect in proteins that connect the cell membrane horizontally. We reported two families of RBC membrane disorders in Taiwanese, one was HS and the other was HE.
View Article and Find Full Text PDFSickle Cell Disease and COVID-19 Infection: Importance of COVID-19 Testing and Approach to Management.
Cureus
March 2022
Department of Medicine, Ichan School of Medicine at Mount Sinai, NYC Health and Hospitals, New York, USA.
Sickle cell disease is an autosomal recessive disorder resulting in the substitution of CTG by CAG in the sixth codon of the beta-globin gene. As a result of this, the hydrophilic glutamic acid residue is replaced by hydrophobic valine residue, leading to the formation of hemoglobin tetramer HBS. This alteration in the beta-globin chain makes the red blood cells prone to sickling, especially in the presence of risk factors such as stress, hypoxia, and infection.
View Article and Find Full Text PDFDetection of Red Blood Cell Membrane Proteins in Myelodysplastic Syndromes Using Eosin-5-Maleimide (EMA) Staining by Flow Cytometry.
Hematol Rep
February 2022
Department of Medicine, Faculty of Medicine, Chulalongkorn University and King Chulalongkorn Memorial Hospital, Bangkok 10230, Thailand.
Background: Eosin-5-Maleimide (EMA)-based flow cytometry binds to red blood cell (RBC) membrane-associated proteins which can be used to detect red blood cell (RBC) membrane disorders. Myelodysplastic syndromes (MDS) are stem cell disorders resulting in ineffective hematopoiesis which is commonly present with anemia and erythroid dysplasia. Objectives: We aimed to study RBC membrane defects in MDS using flow cytometry for EMA staining.
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