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Spherocytosis

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https://www.readbyqxmd.com/read/29228571/identification-of-a-novel-de-novo-ank1-r1426-nonsense-mutation-in-a-chinese-family-with-hereditary-spherocytosis-by-ngs
#1
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...
November 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/29224315/-identification-of-a-novel-anki-gene-mutation-in-hereditary-spherocytosis
#2
Y D Gao, G Li, Y T Bao, Y R Song, B B Zhang, Y M Jiang, L Gao, J Wang, G Y Chen
No abstract text is available yet for this article.
November 14, 2017: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29200157/an-infant-with-unusually-high-unconjugated-hyperbilirubinemia-due-to-coexistence-of-hereditary-spherocytosis-and-gilbert-syndrome
#3
Ivona Butorac Ahel, Kristina Baraba Dekanic, Goran Palcevski, Jelena Roganovic
Hereditary spherocytosis is the most frequent congenital hemolytic anemia and is characterized with variable degree of anemia, jaundice, and splenomegaly. In the case of severe hyperbilirubinemia out of proportion with hemolysis, other causes of hyperbilirubinemia must be considered. Gilbert syndrome (GS) is an autosomal dominant disorder characterized with intermittent hyperbilirubinemia without any other sign and symptom of liver disease as a result of reduced activity of uridine diphosphate-glucuronyl transferase 1A1...
December 1, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/29143312/erythrophagocytosis-by-t-cell-lymphoma-cells-in-a-patient-with-hereditary-spherocytosis-post-splenectomy
#4
Ithiel J Frame, Jared Coberly, Franklin S Fuda, Mingyi Chen
No abstract text is available yet for this article.
November 16, 2017: British Journal of Haematology
https://www.readbyqxmd.com/read/29140423/ventricular-assist-device-implantation-in-a-young-patient-with-non-compaction-cardiomyopathy-and-hereditary-spherocytosis
#5
Katharina Huenges, Bernd Panholzer, Jochen Cremer, Assad Haneya
A case of a 15-year-old female patient with acute heart failure due to non-compaction cardiomyopathy and hereditary anaemia (hereditary spherocytic elliptocytosis) requiring ventricular assist device implantation as a bridge to transplantation is presented. The possible effects of mechanical stress on erythrocytes potentially induced by mechanical circulatory support remains unclear, but it may lead to haemolytic crisis in patients suffering from hereditary anaemia. In our case, ventricular assist device therapy was feasible, and haematological complications did not occur within 6 weeks of bridging our patient to heart transplantation...
November 10, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/29115431/genetic-diagnosis-and-pathogenic-analysis-of-an-atypical-hereditary-spherocytosis-combined-with-ugt1a1-partial-deficiency-a-case-report
#6
Yan Yi, Xiqiang Dang, Yonggui Li, Chenyu Zhao, Haiyan Tang, Xiaoliu Shi
Patients with combined hereditary spherocytosis (HS) and uridine diphosphate glucuronosyltransferase 1A1 (UGT1A1) deficiency have been reported sporadically. A discrepancy between the level of elevated serum bilirubin concentration and the degree of anemia may suggest the possibility of a coexistence of these conditions. In the present case report, a 20‑year‑old female presented with congenital jaundice and anemia, but did not present with the discrepancy between hyperbilirubinemia and anemia in the patient's childhood, and was not previously diagnosed with either HS or UGT1A1 deficiency...
October 25, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/29099659/identification-of-a-de-novo-ank1-mutation-in-a-chinese-family-with-hereditary-spherocytosis
#7
Hongzai Guan, Xinping Liang, Rong Zhang, Haiyan Wang, Wenmiao Liu, Ru Zhang, Jie Yang, Shiguo Liu
OBJECTIVES: Hereditary spherocytosis (HS) is a genetic heterogeneous disorder characterized by sphere-shaped erythrocytes on peripheral blood smear with a few clinical manifestations. As an important red cell membrane protein, ankyrin 1 can interact with transmembrane proteins and the membrane skeleton and mutations in the ankyrin 1 (ANK1) genes affect about half of all patients with HS. The purpose of this study was to investigate a Chinese Han family with HS to find out the causative gene mutation and explore the genotype-phenotype correlation which can provide the basis for the pathogenesis and prenatal diagnosis for this disease...
November 3, 2017: Hematology (Amsterdam, Netherlands)
https://www.readbyqxmd.com/read/29096349/extramedullary-hematopoiesis-mimicking-mediastinal-tumor-in-a-patient-with-hereditary-spherocytosis-case-report
#8
Jae Bum Park, Song Am Lee, Yo Han Kim, Woo Surng Lee, Jae Joon Hwang
INTRODUCTION: Extramedullary hematopoiesis (EMH) is a rare disorder, defined as the appearance of hematopoietic elements outside the bone marrow or peripheral blood. The exact mechanism of this development is still unknown. We herein report a case of intrathoracic EMH, manifesting as a posterior mediastinal tumor in a patient with hereditary spherocytosis. PRESENTATION OF CASE: A 45-year-old man who presented with anemia, jaundice and abdominal pain was diagnosed with hereditary spherocytosis...
October 27, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29079125/hereditary-persistence-of-hemoglobin-f-is-protective-against-red-cell-sickling-a-case-report-and-brief-review
#9
Alexandra Sokolova, Anton Mararenko, Alexander Rozin, Alida Podrumar, Vladimir Gotlieb
Fetal hemoglobin (HbF) is a physiologic protein tetramer that is crucial for a developing fetus to survive in utero. Maternal hemoglobin has a relatively lower affinity for oxygen, and thus allows for an efficient transfer of oxygen from maternal to fetal blood. In addition to fulfilling a critical physiologic role, HbF is also known to alleviate symptoms of sickle-cell disease (SCD). The concentration of HbF depends on several factors. HbF is elevated in inherited conditions, such as hereditary persistence of HbF, hereditary spherocytosis, and thalassemia...
October 16, 2017: Hematology/oncology and Stem Cell Therapy
https://www.readbyqxmd.com/read/29051181/disorders-of-erythrocyte-hydration
#10
Patrick G Gallagher
The erythrocyte contains a network of pathways that regulate salt and water content in the face of extracellular and intracellular osmotic perturbations. This allows the erythrocyte to maintain a narrow range of cell hemoglobin concentration, a process critical for normal red blood cell function and survival. Primary disorders that perturb volume homeostasis jeopardize the erythrocyte and may lead to its premature destruction. These disorders are marked by clinical, laboratory, and physiologic heterogeneity...
October 19, 2017: Blood
https://www.readbyqxmd.com/read/29024480/osmotic-gradient-ektacytometry-a-valuable-screening-test-for-hereditary-spherocytosis-and-other-red-blood-cell-membrane-disorders
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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