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Spherocytosis

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https://www.readbyqxmd.com/read/29910743/squeezing-for-life-properties-of-red-blood-cell-deformability
#1
REVIEW
Rick Huisjes, Anna Bogdanova, Wouter W van Solinge, Raymond M Schiffelers, Lars Kaestner, Richard van Wijk
Deformability is an essential feature of blood cells (RBCs) that enables them to travel through even the smallest capillaries of the human body. Deformability is a function of (i) structural elements of cytoskeletal proteins, (ii) processes controlling intracellular ion and water handling and (iii) membrane surface-to-volume ratio. All these factors may be altered in various forms of hereditary hemolytic anemia, such as sickle cell disease, thalassemia, hereditary spherocytosis and hereditary xerocytosis. Although mutations are known as the primary causes of these congenital anemias, little is known about the resulting secondary processes that affect RBC deformability (such as secondary changes in RBC hydration, membrane protein phosphorylation, and RBC vesiculation)...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29904619/a-case-report-of-congenital-non-spherocytic-hemolytic-anemia-in-a-patient-from-india
#2
Ruhi Sonaye, Shaheen Sombans, Kamleshun Ramphul
Congenital non-spherocytic hemolytic anemia (CNSHA) is a rare autosomal recessive condition that presents as a congenital hemolytic anemia. The absence of vital enzymes required for glycolysis such as homozygous glucose phosphate isomerase (GPI) and red blood cell (RBC) nucleotide metabolism predisposes the RBCs to hemolysis. No spherocytosis is seen on peripheral smear as well as no signs of immune-mediated destruction of RBCs. We present a rare case of a previously healthy 21-year-old female patient with CNSHA from India...
April 13, 2018: Curēus
https://www.readbyqxmd.com/read/29844524/high-throughput-microsphiltration-to-assess-red-blood-cell-deformability-and-screen-for-malaria-transmission-blocking-drugs
#3
Julien Duez, Mario Carucci, Irene Garcia-Barbazan, Matias Corral, Oscar Perez, Jesus Luis Presa, Benoit Henry, Camille Roussel, Papa Alioune Ndour, Noemi Bahamontes Rosa, Laura Sanz, Francisco-Javier Gamo, Pierre Buffet
The mechanical retention of rigid erythrocytes in the spleen is central in major hematological diseases such as hereditary spherocytosis, sickle-cell disease and malaria. Here, we describe the use of microsphiltration (microsphere filtration) to assess erythrocyte deformability in hundreds to thousands of samples in parallel, by filtering them through microsphere layers in 384-well plates adapted for the discovery of compounds that stiffen Plasmodium falciparum gametocytes, with the aim of interrupting malaria transmission...
June 2018: Nature Protocols
https://www.readbyqxmd.com/read/29802103/learning-from-claims-hyperbilirubinaemia-and-kernicterus
#4
Janet M Rennie, Jeanette Beer, Michele Upton
We examined claims made against the National Health Service (NHS) involving neonatal jaundice in order to determine whether there were lessons that could be learnt from common themes.This was a retrospective anonymised study using information from the NHS Resolution database for 2001-2011.Twenty cases (16 males) had sufficient information for analysis. Fifteen had confirmed cerebral palsy and two young children had damage to the globus pallidus without confirmed CP. In three cases, the outcome was uncertain...
May 25, 2018: Archives of Disease in Childhood. Fetal and Neonatal Edition
https://www.readbyqxmd.com/read/29792684/label-free-optical-marker-for-rbc-phenotyping-of-inherited-anaemias
#5
Martina Mugnano, Pasquale Memmolo, Lisa Miccio, Francesco Merola, Vittorio Bianco, Alessia Bramanti, Antonella Gambale, Roberta Russo, Immacolata Andolfo, Achille Iolascon, Pietro Ferraro
The gold standard methods for anaemia diagnosis are the complete blood count and the peripheral smear observation. However, they do not allow for a complete differential diagnosis, which requires biochemical assays, thus being label-dependent techniques. On the other hand, recent studies focus on label-free quantitative phase imaging (QPI) of blood samples to investigate blood diseases by using video-based morphological methods. However, when sick cells are very similar to healthy ones in terms of morphometric features identification of a blood disease becomes challenging even by morphometric as well as QPI...
May 24, 2018: Analytical Chemistry
https://www.readbyqxmd.com/read/29779325/-comparison-of-hemolytic-characteristics-among-paroxysmal-nocturnal-hemoglobinuria-autoimmune-hemolytic-anemia-and-hereditary-spherocytosis
#6
W W Li, J Shi, Z D Huang, N Nie, Y Q Shao, X X Li, M L Ge, J Zhang, J B Huang, P Jin, M Wang, Y Z Zheng
Objective: To determine the valuable hemolytic characteristics in differential diagnosis of paroxysmal nocturnal hemoglobinuria (PNH), autoimmune hemolytic anemia (AIHA) and hereditary spherocytosis (HS). Method: The clinical and hemolytic characteristics of 108 PNH patients, 127 AIHA patients and 172 HS patients diagnosed from January 1998 to April 2017 were compared. Results: ①Reticulocyte percentage (Ret%) of PNH patients [6.70% (0.14%-22.82%)] was significantly lower than that of AIHA [14.00%(0.10%-55...
April 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29755372/use-of-laser-assisted-optical-rotational-cell-analyzer-lorrca-maxsis-in-the-diagnosis-of-rbc-membrane-disorders-enzyme-defects-and-congenital-dyserythropoietic-anemias-a-monocentric-study-on-202-patients
#7
Anna Zaninoni, Elisa Fermo, Cristina Vercellati, Dario Consonni, Anna P Marcello, Alberto Zanella, Agostino Cortelezzi, Wilma Barcellini, Paola Bianchi
Chronic hemolytic anemias are a group of heterogeneous diseases mainly due to abnormalities of red cell (RBC) membrane and metabolism. The more common RBC membrane disorders, classified on the basis of blood smear morphology, are hereditary spherocytosis (HS), elliptocytosis, and hereditary stomatocytoses (HSt). Among RBC enzymopathies, the most frequent is pyruvate kinase (PK) deficiency, followed by glucose-6-phosphate isomerase, pyrimidine 5' nucleotidase P5'N, and other rare enzymes defects. Because of the rarity and heterogeneity of these diseases, diagnosis may be often challenging despite the availability of a variety of laboratory tests...
2018: Frontiers in Physiology
https://www.readbyqxmd.com/read/29749368/effect-of-inherited-red-cell-defects-on-growth-of-plasmodium-falciparum-an-in-vitro-study
#8
Vrushali Pathak, Roshan Colah, Kanjaksha Ghosh
Background & objectives: High prevalence of certain polymorphic alleles of erythrocytes in malaria endemic area has been linked to the resistance provided by these alleles against parasitic infestations. Numerous studies undertaken to demonstrate this correlation have generated conflicting results. This study was undertaken to investigate the abilities of various polymorphic erythrocytes to support in vitro growth of Plasmodium falciparum parasites. Methods: In this study under in vitro condition the ability of P...
January 2018: Indian Journal of Medical Research
https://www.readbyqxmd.com/read/29694877/cytoskeleton-remodeling-induces-membrane-stiffness-and-stability-changes-of-maturing-reticulocytes
#9
He Li, Jun Yang, Trang T Chu, Renugah Naidu, Lu Lu, Rajesh Chandramohanadas, Ming Dao, George Em Karniadakis
Reticulocytes, the precursors of erythrocytes, undergo drastic alterations in cell size, shape, and deformability during maturation. Experimental evidence suggests that young reticulocytes are stiffer and less stable than their mature counterparts; however, the underlying mechanism is yet to be fully understood. Here, we develop a coarse-grained molecular-dynamics reticulocyte membrane model to elucidate how the membrane structure of reticulocytes contributes to their particular biomechanical properties and pathogenesis in blood diseases...
April 24, 2018: Biophysical Journal
https://www.readbyqxmd.com/read/29662857/cryohemolysis-erythrocyte-osmotic-fragility-and-supplementary-hematimetric-indices-in-the-diagnosis-of-hereditary-spherocytosis
#10
Ledesma Achem Miryam Emilse, Haro Cecilia, Terán Magdalena María, Mónaco María Eugenia, Issé Blanca Alicia, Sandra Stella Lazarte
Background: Hereditary spherocytosis (HS) is a chronic hemolytic anemia characterized by microspherocytes in the peripheral blood and increased erythrocyte osmotic fragility (EOF). This study evaluated the cryohemolysis test (CHT); initial hemolysis (IH); immediate and incubated hemolysis percentage in 5.5 g/L NaCl (H5.5); mean corpuscular hemoglobin concentration (MCHC); red blood cell distribution width (RDW); and Hb/MCHC, Hb/RDW, and MCHC/RDW ratios for the diagnosis of HS. Methods: Data from 13 patients with HS were evaluated at the Instituto de Bioquímica Aplicada and compared with data from 14 unaffected individuals and 11 patients with anemia due to another etiology...
March 2018: Blood Research
https://www.readbyqxmd.com/read/29623813/analysis-of-erythrocyte-membrane-proteins-in-patients-with-hereditary-spherocytosis-and-other-types-of-haemolytic-anaemia
#11
Atsushi Shibuya, Hiroaki Kawashima, Masato Tanaka
OBJECTIVES: In order to investigate the pathophysiology of erythrocyte membrane proteins, 10 patients (6 pre- and 4 post-splenectomy) with hereditary spherocytosis (HS) and other patients with haemolytic anaemia were examined. METHODS: The membrane proteins were analysed by biochemical and mass spectrometry. RESULTS: Reductions in the extracellular membrane of band 3 protein by eosin-5'-maleimide (EMA) binding test were greater in patients with pre-splenectomy HS than in patients with post-splenectomy HS, other types of haemolytic anaemia, and controls...
April 6, 2018: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29605204/pulmonary-hypertension-in-chronic-hemolytic-anemias-pathophysiology-and-treatment
#12
REVIEW
Alexandra Haw, Harold I Palevsky
Pulmonary hypertension has emerged as a major cause of morbidity and mortality in patients with hemoglobinopathies and chronic hemolytic anemias. These hematological diseases include - but are not limited to - sickle cell disease (SCD), thalassemia, paroxysmal nocturnal hematuria, and hereditary spherocytosis. Although most studies have been based on the use of echocardiography as a screening tool for pulmonary hypertension as opposed to the gold standard of right heart catheterization for definitive diagnosis, the association between chronic hemolytic anemia and pulmonary hypertension is evident...
April 2018: Respiratory Medicine
https://www.readbyqxmd.com/read/29597199/diagnosis-of-hereditary-spherocytosis-and-secondary-hemochromatosis-in-a-patient-with-jaundice
#13
Yidan Gao, Binbin Zhang, Yiran Song, Ge Li, Yanting Bao, Yanming Jiang, Ling Gao, Gongying Chen, Jie Wang
No abstract text is available yet for this article.
2018: Acta Haematologica
https://www.readbyqxmd.com/read/29594000/nonimmune-hydrops-fetalis-due-to-autosomal-recessive-hereditary-spherocytosis
#14
Dawn M Hannah, Terry B Tressler, Claudia D Taboada
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 to a mild to moderate anemia. The autosomal recessive form of hereditary spherocytosis is rarely reported in association with fetal anemia and hydrops fetalis. Case: A 25 year old G5 P2112 at 25 2/7 weeks gestation presents with severe fetal anemia and nonimmune hydrops fetalis requiring multiple fetal intrauterine transfusions...
October 2017: Case Reports in Women's Health
https://www.readbyqxmd.com/read/29573337/flow-cytometric-osmotic-fragility-test-and-eosin-5-maleimide-dye-binding-tests-are-better-than-conventional-osmotic-fragility-tests-for-the-diagnosis-of-hereditary-spherocytosis
#15
R D Arora, J Dass, S Maydeo, V Arya, N Radhakrishnan, A Sachdeva, J Kotwal, M Bhargava
INTRODUCTION: Hereditary spherocytosis (HS) is the most common inherited hemolytic anemia with heterogeneous clinico-laboratory manifestations. We evaluated the flow-cytometric tests: eosin-5'-maleimide (EMA) and flow-cytometric osmotic fragility test (FOFT) and the conventional osmotic fragility tests (OFT) for the diagnosis of hereditary spherocytosis (HS). METHODS: One hundred two suspected HS patients underwent EMA, FOFT, incubated OFT (IOFT), and room temperature OFT (RT-OFT)...
March 24, 2018: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29572776/exome-sequencing-confirms-molecular-diagnoses-in-38-chinese-families-with-hereditary-spherocytosis
#16
Rongrong Wang, Shuanghao Yang, Ming Xu, Jia Huang, Hongyan Liu, Weiyue Gu, Xue Zhang
Hereditary spherocytosis (HS), the most common cause of congenital hemolytic anemia, is caused by deficiency of the erythrocyte membrane proteins. Five causative genes (ANK1, SPTB, SPTA1, SLC4A1, and EPB42) have been identified. To date, molecular genetic studies have been performed in different populations, including the American, European, Brazilian, Japanese and Korean populations, whereas only a few studies have been described in the Chinese population. Here, by reanalysis of the exome data, we revealed causative mutations and established a definitive diagnosis of HS in all 38 Chinese families...
March 19, 2018: Science China. Life Sciences
https://www.readbyqxmd.com/read/29563373/fatal-cardiac-hemochromatosis-in-a-patient-with-hereditary-spherocytosis
#17
Takeo Fujino, Shujiro Inoue, Shunsuke Katsuki, Taiki Higo, Tomomi Ide, Yoshinao Oda, Hiroyuki Tsutsui
A 31-year-old man was admitted to our hospital with atrial tachycardia and cardiogenic shock. He had been diagnosed with hereditary spherocytosis (HS) during childhood, but he never received any red blood cell transfusions. Right ventricular endomyocardial biopsy revealed multiple myocardial hemosiderin deposits, and he was diagnosed with cardiac hemochromatosis. In addition to the iron deposition in the heart, the loss of myocyte and severe interstitial fibrosis were present. His cardiac function did not improve even after the cardioversion for atrial tachycardia, and he suffered from recurrent heart failure...
March 30, 2018: International Heart Journal
https://www.readbyqxmd.com/read/29554165/blueberry-muffin-rash-secondary-to-hereditary-spherocytosis
#18
Lisa M Daum, Lindsay R Sklar, Darius R Mehregan
The term blueberry muffin rash is used to describe the clinical presentation of dermal extramedullary hematopoiesis. The common culprits of this rash include a TORCH (toxoplasmosis, other agents, rubella, cytomegalovirus, herpes) infection or hematologic dyscrasia. Association of this rash with hereditary spherocytosis is extremely rare. We present a unique case of a neonate born with a blueberry muffin rash secondary to hereditary spherocytosis.
February 2018: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/29513125/a-coincidental-discovery-of-a-new-stable-variant-hb-hachioji-or-hbb-c-187c-t-in-a-patient-with-chronic-hemolytic-anemia-of-unexplained-origin
#19
Ferania Mella, Yasuhiro Yamashiro, Chris Adhiyanto, Tatehiko Tanaka, Takenori Nitta, Yuki Amao, Masafumi Kimoto
We report a new hemoglobin (Hb) variant, Hb Hachioji (HBB: c.187C>T), which was detected in a 32-year-old male with hemolytic anemia. The proband had undergone splenectomy in his childhood after being diagnosed with hereditary spherocytosis (HS) with no clinical improvement. A recent study showed that Heinz bodies were frequently observed in his red cells, however, no abnormal band was separated by isoelectric focusing (IEF), and the isopropanol (instability) test was negative. Direct sequencing revealed that the proband was a heterozygous carrier of a novel mutation (GCT>GTT) at codon 62 of the β-globin gene, leading to an alanine to valine substitution...
January 2018: Hemoglobin
https://www.readbyqxmd.com/read/29508504/a-rhag-point-mutation-selectively-disrupts-rh-antigen-expression
#20
S Mu, Y Cui, W Wang, L Wang, H Xu, O Zhu, D Zhu
OBJECTIVES: The aim of this study was to characterise a novel mutation in the gene encoding RhAG in order to elucidate a molecular mechanism for Rh antigen expression and spherocytosis. BACKGROUND: Rhesus-associated glycoprotein (RhAG) is critical for maintaining the structure and stability of erythrocytes. Single missense mutations in the gene encoding RhAG are sufficient to induce spherocytosis and deficiencies in Rh complex formation. We report a novel missense mutation that incompletely disrupts Rh antigen expression and selectively knocks out RhD antigen expression...
March 6, 2018: Transfusion Medicine
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