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Spherocytosis

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https://www.readbyqxmd.com/read/29024480/osmotic-gradient-ektacytometry-a-valuable-screening-test-for-hereditary-spherocytosis-and-other-red-blood-cell-membrane-disorders
#1
E Llaudet-Planas, J L Vives-Corrons, V Rizzuto, P Gómez-Ramírez, J Sevilla Navarro, M T Coll Sibina, M García-Bernal, A Ruiz Llobet, I Badell, P Velasco-Puyó, J L Dapena, M M Mañú-Pereira
INTRODUCTION: New generation osmotic gradient ektacytometry has become a powerful procedure for measuring red blood cell deformability and therefore for the diagnosis of red blood cell membrane disorders. In this study, we aim to provide further support to the usefulness of osmotic gradient ektacytometry for the differential diagnosis of hereditary spherocytosis by measuring the optimal cutoff values of the parameters provided by this technique. METHODS: A total of 65 cases of hereditary spherocytosis, 7 hereditary elliptocytosis, 3 hereditary xerocytosis, and 171 normal controls were analyzed with osmotic gradient ektacytometry in addition to the routine red blood cell laboratory techniques...
October 10, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28963754/diminished-presentation-of-complement-regulatory-protein-cd55-on-red-blood-cells-from-patients-with-hereditary-haemolytic-anaemias
#2
A Loniewska-Lwowska, K Koza, E Mendek-Czajkowska, P Wieszczy, A Adamowicz-Salach, K Branicka, I Witos, A Sapala-Smoczynska, T Jackowska, J Fabijanska-Mitek
INTRODUCTION: Hereditary haemolytic anaemias (HHA) encompass a heterogeneous group of anaemias characterized by decreased red blood cell survival. The aim of this study was to evaluate the status of red blood cell (RBC) surface molecules known or previously proposed to participate in preventing premature RBC clearance, analysing erythrocytes from patients with two types of HHA: hereditary spherocytosis (HS) and microcytosis. MATERIAL/METHODS: Relative binding of five monoclonal antibodies (mAbs), anti-CD55, anti-CD59, anti-CD44, anti-CD47 and anti-CD58, was evaluated in erythrocytes of patients with HS and hereditary microcytosis, using flow cytometry...
September 30, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/28952075/persistent-changes-in-circulating-white-blood-cell-populations-after-splenectomy
#3
Minke A E Rab, Aafke Meerveld-Eggink, Heleen van Velzen-Blad, Douwe van Loon, Ger T Rijkers, Okke de Weerdt
The effect of splenectomy on the incidence of infections and thromboembolisms has been investigated thoroughly. Nevertheless, the long-term effects of splenectomy on immunological profile and circulating blood counts have not been described before. To study such long-term effects, we analysed several parameters in splenectomised trauma patients and compared the results of this group ("otherwise healthy patients") to patients with a specific underlying disease. We measured platelet count, leukocytes and differential, lymphocyte subsets, serum levels of immunoglobulins, and complement pathways in 113 patients...
September 26, 2017: International Journal of Hematology
https://www.readbyqxmd.com/read/28932200/is-increased-intracellular-calcium-in-red-blood-cells-a-common-component-in-the-molecular-mechanism-causing-anemia
#4
Laura Hertz, Rick Huisjes, Esther Llaudet-Planas, Polina Petkova-Kirova, Asya Makhro, Jens G Danielczok, Stephane Egee, Maria Del Mar Mañú-Pereira, Richard van Wijk, Joan-Lluis Vives Corrons, Anna Bogdanova, Lars Kaestner
For many hereditary disorders, although the underlying genetic mutation may be known, the molecular mechanism leading to hemolytic anemia is still unclear and needs further investigation. Previous studies revealed an increased intracellular Ca(2+) in red blood cells (RBCs) from patients with sickle cell disease, thalassemia, or Gardos channelopathy. Therefore we analyzed RBCs' Ca(2+) content from 35 patients with different types of anemia (16 patients with hereditary spherocytosis, 11 patients with hereditary xerocytosis, 5 patients with enzymopathies, and 3 patients with hemolytic anemia of unknown cause)...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/28914173/flow-cytometric-analysis-of-patients-with-hereditary-spherocytosis-an-indian-scenario
#5
Prabhu Manivannan, Seema Tyagi, Dinesh Chandra, Pravas Mishra, Hara Prasad Pati, Renu Saxena
OBJECTIVES: Flow cytometry osmotic fragility test (FC-OFT) was a recently introduced screening test for hereditary spherocytosis (HS). This study was conducted to evaluate the utility of FC-OFT in all newly diagnosed cases of HS, to compare its diagnostic value with conventional OFT and to correlate with clinical disease severity. METHODS: In this study, the percentage of residual red cells (%RRC) was measured using flow cytometer after creating a red cell suspension...
September 15, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/28764172/clinico-haematological-profile-of-hereditary-haemolytic-anaemias-in-a-tertiary-health-care-hospital-in-south-india
#6
Chaitra Venkataswamy, Am Shanthala Devi
INTRODUCTION: Hereditary haemolytic anaemia is a common inherited disorder causing varying degree of morbidity and mortality. This includes disorders due to haemoglobin defect, membrane defect, and enzyme defect. Among them haemoglobinopathies, a single gene disorder, constitutes the major part of the disorder and is distributed worldwide with an incidence of 5%. These inherited disorders pose a major public health problem and increase the burden both on the patient and the society. Presently, these disorders are not curable but can only be prevented...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28751503/ankyrin-1-gene-exhibits-allelic-heterogeneity-in-conferring-protection-against-malaria
#7
Hong Ming Huang, Denis C Bauer, Patrick M Lelliott, Matthew W A Dixon, Leann Tilley, Brendan J McMorran, Simon J Foote, Gaetan Burgio
Allelic heterogeneity is a common phenomenon where a gene exhibits a different phenotype depending on the nature of its genetic mutations. In the context of genes affecting malaria susceptibility, it allowed us to explore and understand the intricate host-parasite interactions during malaria infections. In this study, we described a gene encoding erythrocytic ankyrin-1 (Ank-1) which exhibits allelic-dependent heterogeneous phenotypes during malaria infections. We conducted an ENU mutagenesis screen on mice and identified two Ank-1 mutations, one resulting in an amino acid substitution (MRI95845), and the other a truncated Ank-1 protein (MRI96570)...
September 7, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28700505/sepsis-due-to-streptococcus-pneumoniae-associated-with-secondary-hemophagocytic-lymphohistiocytosis-in-a-splenectomized-patient-for-spherocytosis-a-case-report
#8
Victoria Birlutiu, Rares Mircea Birlutiu
RATIONALE: Hemophagocytic lymphohistiocytosis (HLH) is a syndrome that is characterized by an inappropriate hyperinflammatory immune response - primary, as a consequence of a genetic defect of NK cells and cytotoxic T lymphocytes or - secondary, in the progression of infections, rheumatic or autoimmune diseases, malignancies or metabolic diseases. PATIENT CONCERNS: We present the case of a secondary HLH due to Streptococcus pneumoniae infection in a splenectomised patient for spherocytosis, a 37-year-old patient who was splenectomised in childhood for spherocytosis, without immuneprophylaxis induced by antipneumococcal vaccine...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28694211/novel-mutations-in-patients-with-hereditary-red-blood-cell-membrane-disorders-using-next-generation-sequencing
#9
Yunyan He, Siyuan Jia, Roma Kajal Dewan, Ning Liao
To diagnose and investigate the genotype-phenotype relationship in intractable hereditary red blood cell (RBC) membrane cases, we have utilized next-generation sequencing (NGS) to develop a high-throughput, highly sensitive assay. Three unrelated families including 15 individuals were analysed with a panel interrogating 600 genes related to haematopathy disorders. Where possible, inheritance patterns of pathogenic mutations were determined by sequencing the relatives. We identified 2 novel mutations in ANK1 (Y216X and E142X) responsible for hereditary spherocytosis (HS) that were stop-gain single nucleotide variants (SNVs)...
September 5, 2017: Gene
https://www.readbyqxmd.com/read/28655100/-correlation-of-the-degree-of-band-3-protein-absence-on-erythrocyte-membrane-by-eosin-5-maleimide-binding-test-and-clinical-phenotype-in-hereditary-spherocytosis
#10
G X Peng, W R Yang, L P Jing, L Zhang, K Zhou, Y Li, L Ye, Y Li, J P Li, H H Fan, L Song, X Zhao, Z J Wu, Y Yang, Y Z Xiong, H J Wang, F K Zhang
Objective: To investigate the relationship between the eosin-5'-maleimide (EMA) binding test and the clinical severity of hereditary spherocytosis (HS). Methods: A total of 258 un-splenectomize HS patients were consecutively enrolled. Correlation of hemoglobin concentration, hemolytic parameters, compensating erythropoiesis and the EMA binding test were evaluated. Results: 258 (128 male and 130 female) patients were included in this study, including 91 compensatory hemolysis patients, 53 patients with mild anemia, 78 patients with moderate anemia and 36 patients with severe anemia...
June 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/28612582/management-in-rare-association-of-moyamoya-syndrome-and-hereditary-spherocytosis
#11
Samira Yadegari, Ali Aminian
No abstract text is available yet for this article.
August 2017: Minerva Pediatrica
https://www.readbyqxmd.com/read/28599278/identification-of-a-novel-de-novo-ank1-r1426-nonsense-mutation-in-a-chinese-family-with-hereditary-spherocytosis-by-ngs
#12
Xiong Wang, Bin Yi, Ketao Mu, Na Shen, Yaowu Zhu, Qun Hu, Yanjun Lu
Hereditary spherocytosis (HS) is an inherited heterogeneous hemolytic anemia, characterized by the presence of spherical-shaped erythrocytes on the peripheral blood smear, and the clinical manifestation ranges from asymptomatic to severely anemic, and transfusion-dependent patients. Mutations in at least five genes (ANK1, EPB42, SLC4A1, SPTA1, and SPTB) have been identified so far, and mutations of ANK1 gene are responsible for the majority of all HS cases. In this study, targeted next generation sequencing (NGS) was applied to identify a novel de novo ANK1 c...
May 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28598970/seroprevalence-and-clinical-characteristics-of-viral-hepatitis-in-transfusion-dependent-thalassemia-and-hemophilia-patients
#13
Tyng-Yuan Jang, Pei-Chin Lin, Ching-I Huang, Yu-Mei Liao, Ming-Lun Yeh, Yu-Sheng Zeng, Po-Cheng Liang, Wan-Yi Hsu, Shih-Pien Tsai, Zu-Yau Lin, Shinn-Cherng Chen, Jee-Fu Huang, Chia-Yen Dai, Chung-Feng Huang, Shyh-Shin Chiou, Wan-Long Chuang, Ming-Lung Yu
BACKGROUND/AIMS: Transfusion dependent subjects are at a great risk of viral hepatitis infection. We aimed to evaluate the prevalence and factors associated with hepatitis B virus (HBV) and hepatitis C virus (HCV) infection among transfusion-dependent patients in Taiwan. METHODS: A total of 140 patients (67 thalassemic patients, 70 hemophilic patients, two patients with hereditary spherocytosis and one patient with von Willebrand disease) were prospectively enrolled to evaluate the prevalence and factors associated with viral hepatitis and spontaneous HCV clearance...
2017: PloS One
https://www.readbyqxmd.com/read/28596658/usefulness-of-reticulocyte-parameters-for-diagnosis-of-hereditary-spherocytosis-in-children
#14
Olga Ciepiela, Anna Adamowicz-Salach, Andżelika Radgowska, Katarzyna Żbikowska, Iwona Kotuła
Innovations in laboratory equipment have enabled a widening of the spectrum of hematological parameters obtained from single measurements of peripheral blood samples, including reticulocyte parameters. The usefulness of reticulocytes indices to confirm the diagnosis of pediatric anemia was analyzed in this study. The study group consisted of 163 children, aged 1 month-17 years, with anemia. Complete blood count extended with an analysis of reticulocyte parameters were measured using a Beckman Coulter LH 750...
June 2017: Indian Journal of Hematology & Blood Transfusion
https://www.readbyqxmd.com/read/28596226/autoimmune-hemolytic-anemia-associated-with-trimethoprim-sulfamethoxazole-use
#15
Jillian Frieder, Jason Aboudi Mouabbi, Rami Zein, Tariq Hadid
PURPOSE: A case report of drug-induced immune hemolytic anemia (DIIHA) triggered by exposure to trimethoprim-sulfamethoxazole is presented along with a brief review of the pathophysiology of DIIHA and diagnostic considerations. SUMMARY: A 58-year-old woman recently initiated on trimethoprim-sulfamethoxazole for treatment of a urinary tract infection presented to the emergency department with generalized weakness and fatigue. Initial laboratory studies were significant for the following values: hemoglobin concentration, 5...
June 15, 2017: American Journal of Health-system Pharmacy: AJHP
https://www.readbyqxmd.com/read/28550239/clinical-conditions-responsible-for-hyperviscosity-and-skin-ulcers-complications
#16
Gregorio Caimi, Baldassare Canino, Rosalia Lo Presti, Caterina Urso, Eugenia Hopps
In this brief review, we have examined some clinical conditions that result to be associated to an altered hemorheological profile and at times accompanied by skin ulcers. This skin condition may be observed in patients with the following condtions, such as primary polycythemic hyperviscosity (polycythemia, thrombocytemia) treated with hydroxyurea, primary plasma hyperviscosity (multiple myeloma, cryoglobulinemia, cryofibrinogenemia, dysfibrinogenemia, and connective tissue diseases), primary sclerocythemic hyperviscosity (hereditary spherocytosis, thalassemia, and sickle cell disease)...
May 19, 2017: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/28550188/recommendations-regarding-splenectomy-in-hereditary-hemolytic-anemias
#17
Achille Iolascon, Immacolata Andolfo, Wilma Barcellini, Francesco Corcione, Loïc Garçon, Lucia De Franceschi, Claudio Pignata, Giovanna Graziadei, Dagmar Pospisilova, David C Rees, Mariane de Montalembert, Stefano Rivella, Antonella Gambale, Roberta Russo, Leticia Ribeiro, Jules Vives-Corrons, Patricia Aguilar Martinez, Antonis Kattamis, Beatrice Gulbis, Maria Domenica Cappellini, Irene Roberts, Hannah Tamary
Hereditary hemolytic anemias are a group of disorders with a variety of causes, including red cell membrane defects, red blood cell enzyme disorders, congenital dyserythropoietic anemias, thalassemia syndromes and hemoglobinopathies. As damaged red blood cells passing through the red pulp of the spleen are removed by splenic macrophages, splenectomy is one possible therapeutic approach to the management of severely affected patients. However, except for hereditary spherocytosis for which the effectiveness of splenectomy has been well documented, the efficacy of splenectomy in other anemias within this group has yet to be determined and there are concerns regarding short- and long-term infectious and thrombotic complications...
August 2017: Haematologica
https://www.readbyqxmd.com/read/28542050/low-spo2-with-normal-sao2-during-general-anesthesia-a-case-report
#18
Stefan Brugger, Maria-Dolores Santafé-Marti, Malika Lakhal
A 25-year-old Caucasian man with a history of spherocytosis, splenectomy, recurrent blood transfusion, and no cardiopulmonary disease presented for an emergent laparoscopic cholecystectomy with a baseline pulse oximetric saturation (SpO2) of 88% while breathing room air. The SpO2 increased to only 89% during preoxygenation with an FIO2 1.0. Multiple arterial blood samples revealed SaO2 as high as 100% with PaO2 averaging 390 mm Hg. He was subsequently diagnosed with a dyshemoglobin, hemoglobin Köln. The simultaneous presentation of a stable patient from a cardiopulmonary perspective with normal arterial oxygen tension and saturation in the blood gas analyses despite a low SpO2 measurement outlines the importance of integrating the history of present illness and both the importance and the limitation of the pulse oximetry...
October 1, 2017: A & A Case Reports
https://www.readbyqxmd.com/read/28482413/-hereditary-spherocytosis-complicated-by-hereditary-hemochromatosis-a-case-report
#19
H B Ning, E E Guo, J P Liu, E H Xiao, J Shang
No abstract text is available yet for this article.
March 20, 2017: Zhonghua Gan Zang Bing za Zhi, Zhonghua Ganzangbing Zazhi, Chinese Journal of Hepatology
https://www.readbyqxmd.com/read/28480998/evaluation-of-osmocells-a-new-semi-automatic-device-for-osmotic-fragility-assessment
#20
D Gérard, A-J Fattet, C Brakta, A Phulpin, D Steschenko, J-F Lesesve, J Perrin
INTRODUCTION: The osmotic fragility (OF) test was a central test for the diagnosis of hereditary red blood cell (RBC) disorders (mostly hereditary spherocytosis (HS), but thalassaemia as well). Nowadays although the traditional multitubes method has lost a prominent place, many laboratories still perform such a laboured test, despite the lack of standardization. In fact, the evaluation of OF may offer an inexpensive screening for RBC disorders. We present a new semi-automatic device, allowing the continuous recording of OF, by an updated dialysis method...
October 2017: International Journal of Laboratory Hematology
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