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Spherocytosis

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https://www.readbyqxmd.com/read/29434716/%C3%AE-thalassaemia-combined-with-hereditary-spherocytosis-in-the-same-patient
#1
Xiaohong Li, Lin Liao, Xuelian Deng, Jian Huang, Zengfu Deng, Hongying Wei, Wuning Mo, Faquan Lin
A family of four from the Guangxi Zhuang Autonomous Region of China, including a child with α-thalassaemia and hereditary spherocytosis (HS), underwent laboratory identification, and genetic analysis. After harvesting peripheral blood samples from the child patient and his family members, GAP-polymerase chain reaction (PCR) and reverse dot-blot tests were used to identify thalassaemia genotypes. After amplifying exons and the adjacent introns of solute carrier family 4 member 1 (Diego blood group) (SLC4A1), ankyrin 1, spectrin α erythrocytic 1, spectrin β erythrocytic and erythrocyte membrane protein band 4...
February 2018: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/29415937/-portal-vein-thrombosis-associated-with-idiopathic-hypereosinophilic-syndrome
#2
Satoshi Kaito, Sakiko Harada, Masao Tsukada, Akira Kojima, Kanichi Iwama, Kazunari Yamada, Kouichi Kajiwara, Kentaro Morikawa, Keiki Shimizu, Yasuji Kozai, Hideki Koudo
A 35-year-old man who previously underwent splenectomy for hereditary spherocytosis at age 29 visited our hospital complaining of fatigue that had started 7 days ago and right upper abdominal pain. Laboratory data showed increased white blood cell and eosinophil count accompanied by severe transaminitis and clotting abnormalities. Computed tomography scan showed multiple embolisms in the portal vein, superior mesenteric vein, right pulmonary artery, and inferior vena cava. Severe liver damage presumably caused by portal vein thrombosis was also observed...
2018: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/29402830/molecular-genetic-mechanisms-of-hereditary-spherocytosis-current-perspectives
#3
Ben-Jin He, Lin Liao, Zeng-Fu Deng, Yi-Feng Tao, Yu-Chan Xu, Fa-Quan Lin
With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. However, mutations in HS-related genes are dispersed and nonspecific in the diagnosis of some HS patients, indicating significant heterogeneity in the molecular deficiency of HS. It is necessary to provide the molecular and genetic characteristics of these 5 genes for clinicians to examine HS. Here, we reviewed the recent proposed molecular genetic mechanisms of HS...
January 22, 2018: Acta Haematologica
https://www.readbyqxmd.com/read/29396846/multi-gene-panel-testing-improves-diagnosis-and-management-of-patients-with-hereditary-anemias
#4
Roberta Russo, Immacolata Andolfo, Francesco Manna, Antonella Gambale, Roberta Marra, Barbara Eleni Rosato, Paola Caforio, Valeria Pinto, Piero Pignataro, Kottayam Radhakrishnan, Sule Unal, Giovanna Tomaiuolo, Gian Luca Forni, Achille Iolascon
Mutations in more than 70 genes cause hereditary anemias (HA), a highly heterogeneous group of rare/low frequency disorders in which we included: hyporegenerative anemias, as congenital dyserythropoietic anemia (CDA) and Diamond-Blackfan anemia; hemolytic anemias due to erythrocyte membrane defects, as hereditary spherocytosis and stomatocytosis; hemolytic anemias due to enzymatic defects. The study describes the diagnostic workflow for HA, based on the development of two consecutive versions of a targeted-NGS panel, including 34 and 71 genes, respectively...
February 3, 2018: American Journal of Hematology
https://www.readbyqxmd.com/read/29348906/an-ank1-ivs3-2a-c-mutation-causes-exon-4-skipping-in-two-patients-from-a-chinese-family-with-hereditary-spherocytosis
#5
Xiong Wang, Liyan Mao, Na Shen, Jing Peng, Yaowu Zhu, Qun Hu, Yanjun Lu
Hereditary spherocytosis (HS) is a congenital hemolytic anemia that affects the cell membrane of red blood cells and is characterized by the presence of spherical-shaped erythrocytes in the peripheral blood film. The clinical manifestation of HS ranges from asymptomatic to severe cases that require transfusion during early childhood. HS is caused by mutations in red blood cell membrane protein encoding genes, including ANK1, EPB42, SLC4A1, SPTA1, and SPTB. Mutations of the ANK1 gene account for 75% of all HS cases, and these particular mutations are typically inherited in an autosomal dominant manner...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29338606/utility-of-mean-sphered-cell-volume-and-mean-reticulocyte-volume-for-the-diagnosis-of-hereditary-spherocytosis
#6
Rahul Darshan Arora, Jasmita Dass, Seema Maydeo, Vandana Arya, Jyoti Kotwal, Manorama Bhargava
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 laboratory test which is usually the osmotic fragility test (OFT). We conducted a study to assess the utility of mean corpuscular hemoglobin concentration (MCHC), mean corpuscular volume (MCV), mean sphered cell volume (MSCV), and mean reticulocyte volume (MRV) in the diagnosis of HS and if these are helpful in distinguishing cases of HS from immune hemolytic anemia...
January 16, 2018: Hematology (Amsterdam, Netherlands)
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
REVIEW
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...
December 21, 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
#17
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...
February 2018: 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
#18
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
#19
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
#20
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
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