Results 21 to 30 of about 6,512 (195)

Hereditary Spherocytosis

Eurasian Journal of Medicine, 2019
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Özden Vural, Cahit Kazaz, Hüseyin Şenocak   +2 more
doaj   +4 more sources

Risk of hereditary spherocytosis misdiagnosis due to limited effective diagnostic methods

Revista Cubana de Medicina Militar
Introduction: Hereditary spherocytosis is a prevalent congenital hemolytic erythrocyte membranopathy. Laboratory diagnosis is traditionally based on erythrocyte morphology, yet 20% of cases may lack visible spherocytes, leading to misdiagnosis.
Hien Thanh Dao, Triet Hy Van, Tuyet Thi Bach Tran, Dat Quoc Ngo, Anh Thi Mai Nguyen   +4 more
doaj   +2 more sources

In-depth analysis of osmotic gradient ektacytometry parameters across different genotypes in hereditary spherocytosis. [PDF]

Br J Haematol
Summary Hereditary spherocytosis (HS) is a hereditary haemolytic anaemia, caused by pathogenic variants in genes encoding red blood cell membrane proteins. Osmotic gradient ektacytometry evaluates red cell deformability and hydration and is increasingly used in the diagnosis of HS.
de Wilde JRA, Kuppens GZL, Boesveld ME, van Vuren AJ, van Solinge WW, Waanders E, van Beers EJ, Rab MAE, Bartels M, van Wijk R.   +9 more
europepmc   +2 more sources

Hereditary Spherocytosis

Journal of Associated Medical Sciences, 2015
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ละอองดาว สุวรรณชมภู, Prasit Chanarat   +1 more
doaj   +1 more source

Hematological characteristics and hepatobiliary complications of hereditary spherocytosis in a tertiary care pediatric center: optimizing diagnosis and care through local and international networks

Frontiers in Pediatrics, 2023
BackgroundHereditary Spherocytosis (HS) is a rare, congenital red blood cell disorder presenting with variable clinical manifestations ranging from mild hemolytic anemia to severe anemia with hypersplenism and hepatobiliary complications.MethodsThe ...
Maria Paola Boaro, Maria Paola Boaro, Giulia Reggiani, Giulia Reggiani, Mirco D’Agnolo, Mirco D’Agnolo, Vania Munaretto, Vania Munaretto, Francesco Pozzebon, Francesco Pozzebon, Roberta Trapanese, Roberta Trapanese, Maddalena Martella, Maddalena Martella, Raffaella Colombatti, Raffaella Colombatti   +15 more
doaj   +1 more source

A Case of Adrenal Myelolipoma Associated with Hereditary Spherocytosis

Clinical Pediatric Hematology-Oncology, 2021
Hereditary spherocytosis is the most common hereditary red blood cell membrane disorder. It results from a deficiency in certain proteins that are part of the red blood cell membrane cytoskeleton.
Dahui Gug, Ha Young Park, Bo Lyun Lee, Kwang Hoon Kim, Jeong Eun Lee, Ji Kyoung Park   +5 more
doaj   +1 more source

On-Chip Evaluation of Red Blood Cell Deformability Through Transit Velocity Index in Hematological Diseases. [PDF]

Small
The deformability of red blood cell is essential for smooth microcirculation. We propose a deformability index using a microfluidic platform with capillary‐like constrictions, based on the relationship between cell deformation and transit velocity through the constrictions. Its effectiveness and clinical potential have been demonstrated in applications
Kajitani K, Tsai CD, Ohtani T, Wada S, Cimrák I, Chimura M, Taniguchi T, Ueda Y, Nishimura JI, Sakata Y.   +9 more
europepmc   +2 more sources

Facilitating EMA binding test performance using fluorescent beads combined with next‐generation sequencing

eJHaem, 2021
The eosin‐5′‐maleimide (EMA) binding test is widely used as diagnostic test for hereditary spherocytosis (HS), one of the most common haemolytic disorders in Caucasian populations.
Andreas Glenthøj, Christian Brieghel, Amina Nardo‐Marino, Richard vanWijk, Henrik Birgens, Jesper Petersen   +5 more
doaj   +1 more source

Fulminant Haemolysis Following Endoscopic Retrograde Cholangiopancreatography

European Journal of Case Reports in Internal Medicine, 2021
We report the case of a 77-year-old-man with a history of type 2 diabetes mellitus who underwent endoscopic retrograde cholangiopancreatography (ERCP) because of a gallstone in the common bile duct.
Mário Bibi, Susana Viana, Cátia Leitão, Rui Moço, Yuliana O. Eremina   +4 more
doaj   +1 more source

Diagnostic power of laboratory tests for hereditary spherocytosis: a comparison study in 150 patients grouped according to molecular and clinical characteristics

Haematologica, 2012
Background The laboratory diagnosis of hereditary spherocytosis commonly relies on NaCl-based or glycerol-based red cell osmotic fragility tests; more recently, an assay directly targeting the hereditary spherocytosis molecular defect (eosin-5′-maleimide-
Paola Bianchi, Elisa Fermo, Cristina Vercellati, Anna P. Marcello, Laura Porretti, Agostino Cortelezzi, Wilma Barcellini, Alberto Zanella   +7 more
doaj   +1 more source