Blood cell parameters for screening and diagnosis of hereditary spherocytosis
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.22844
Abstract: There is currently no single index for the diagnostic screening of hereditary spherocytosis (HS). However, hematology analyzers are widely used in hospital laboratories because of their highly automated performance and quality control procedure, and detection… read more here.
Keywords: cell parameters; blood cell; hereditary spherocytosis;
The diagnostic protocol for hereditary spherocytosis-2021 update.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of clinical laboratory analysis"
DOI: 10.1002/jcla.24034
Abstract: BACKGROUND Hereditary spherocytosis (HS), a commonly encountered hereditary hemolytic disease, is mostly inherited in an autosomal dominant manner. The clinical manifestations in patients with HS show obvious heterogeneity. Moreover, the sensitivity or specificity of some… read more here.
Keywords: diagnosis; hereditary spherocytosis; protocol; hemolytic anemia ... See more keywords
Influence of diabetes and hypercholesterolemia on laboratory methods for hereditary spherocytosis diagnosis
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Laboratory Analysis"
DOI: 10.1002/jcla.24248
Abstract: Hereditary spherocytosis (HS) is characterized by decreased erythrocyte deformability resulting in hemolytic anemia. This is a heterogeneous disease regarding underlying protein deficiency, disease severity, age at diagnosis and clinical course. Although largely considered as pediatric… read more here.
Keywords: laboratory; influence diabetes; diagnosis; hereditary spherocytosis ... See more keywords
Identification of a novel ANK1 mutation in hereditary spherocytosis co‐existing with BWS
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1903
Abstract: Beckwith–Wiedemann syndrome (BWS) is an inherited disorder affecting 1 in 10,500 to 13,700 newborns worldwide. The disease is caused in a vast majority of patients by a molecular defect in the imprinted chromosome 11p15.5. Hereditary… read more here.
Keywords: ank1 mutation; mutation hereditary; spherocytosis; novel ank1 ... See more keywords
Congenital dyserythropoietic anemia type II mimicking hereditary spherocytosis in Indian patient with SEC23B-Y462C mutations
Sign Up to like & getrecommendations! Published in 2017 at "Annals of Hematology"
DOI: 10.1007/s00277-017-3116-5
Abstract: Dear Editor, Congenital dyserythropoietic anemias are rare inherited disorders characterized by a reduced reticulocyte production and hyperplasia in bone marrow [1, 2]. The anemia and hyperbilirubinemia are usually observed in childhood and young adults. Anisocytosis,… read more here.
Keywords: anemia; hematology; hereditary spherocytosis; blood ... See more keywords
Nonimmune hydrops fetalis due to autosomal recessive hereditary spherocytosis
Sign Up to like & getrecommendations! Published in 2017 at "Case Reports in Women's Health"
DOI: 10.1016/j.crwh.2017.09.003
Abstract: Background Hereditary spherocytosis is the most common form of inherited hemolytic anemia and is characterized by a structural defect in the RBC membrane. The disorder is commonly inherited in an autosomal dominant fashion and leads… read more here.
Keywords: anemia; nonimmune hydrops; hereditary spherocytosis; hydrops fetalis ... See more keywords
Extramedullary hematopoiesis of the sphenoid sinus associated with hereditary spherocytosis: A case report.
Sign Up to like & getrecommendations! Published in 2018 at "International journal of pediatric otorhinolaryngology"
DOI: 10.1016/j.ijporl.2018.08.012
Abstract: Extramedullary hematopoiesis is a rare cause of a sinonasal mass that presents unique diagnostic and treatment challenges. While there are numerous reports of patients with hereditary spherocytosis developing extramedullary hematopoiesis in the posterior mediastinum, involvement… read more here.
Keywords: hematopoiesis; sphenoid sinus; hematopoiesis sphenoid; hereditary spherocytosis ... See more keywords
The fluid membrane determines mechanics of erythrocyte extracellular vesicles and is softened in hereditary spherocytosis
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DOI: 10.1038/s41467-018-07445-x
Abstract: Extracellular vesicles (EVs) are widely studied regarding their role in cell-to-cell communication and disease, as well as for applications as biomarkers or drug delivery vehicles. EVs contain membrane and intraluminal proteins, affecting their structure and… read more here.
Keywords: extracellular vesicles; hereditary spherocytosis; blood; cell ... See more keywords
A Case of Hereditary Spherocytosis Caused by a Novel Homozygous Mutation in the SPTB Gene Misdiagnosed as β-Thalassemia Intermedia Due to a KLF1 Gene Mutation
Sign Up to like & getrecommendations! Published in 2019 at "Hemoglobin"
DOI: 10.1080/03630269.2019.1620764
Abstract: Abstract We report a rare case of hereditary spherocytosis (HS) and hereditary persistence of fetal hemoglobin (Hb) (HPFH) complicated with a β-thalassemia (β-thal) trait and a Krüppel-like factor 1 (KLF1) gene mutation misdiagnosed as β-thal… read more here.
Keywords: klf1 gene; case hereditary; hereditary spherocytosis; gene mutation ... See more keywords
Hemophagocytic lymphohistiocytosis associated with parvovirus B19-induced aplastic crisis in a hereditary spherocytosis patient: A case report and literature review.
Sign Up to like & getrecommendations! Published in 2021 at "Pediatric hematology and oncology"
DOI: 10.1080/08880018.2021.1949082
Abstract: Hemophagocytic lymphohistiocytosis (HLH) is a syndrome of pathologic immune activation. It occurs because of severe inflammation due to uncontrolled proliferation of activated lymphocytes and histiocytes, characterized by the production of excessive levels of cytokines. Virus-associated… read more here.
Keywords: parvovirus b19; hereditary spherocytosis; parvovirus; aplastic crisis ... See more keywords
Utility of mean sphered cell volume and mean reticulocyte volume for the diagnosis of hereditary spherocytosis
Sign Up to like & getrecommendations! Published in 2018 at "Hematology"
DOI: 10.1080/10245332.2018.1423879
Abstract: ABSTRACT Introduction: Hereditary spherocytosis (HS) is the most common congenital hemolytic anemia, characterized by anemia, jaundice, and splenomegaly. The diagnosis of HS relies on symptoms of hemolysis, a family history of HS, and a positive… read more here.
Keywords: volume; diagnosis; mean sphered; hereditary spherocytosis ... See more keywords