2,661 results match your criteria Spherocytosis Hereditary


Eosin-5'-maleimide binding test-Do we use appropriate reference values to detect hereditary spherocytosis in neonates?

Int J Lab Hematol 2018 Dec 10. Epub 2018 Dec 10.

Department of Laboratory Diagnostics and Clinical Immunology of Developmental Age, Medical University of Warsaw, Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijlh.12958DOI Listing
December 2018
3 Reads

Inherited hemolytic anemia: a possessive beginner's guide.

Authors:
Narla Mohandas

Hematology Am Soc Hematol Educ Program 2018 Nov;2018(1):377-381

New York Blood Center, New York, NY.

Significant advances have been made in diagnosis and clinical management of inherited red cell membrane disorders that result in hemolytic anemia. Membrane structural defects lead to hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), whereas altered membrane transport function accounts for hereditary xerocytosis (HX) and hereditary overhydrated stomatocytosis (OHS). The degrees of membrane loss and resultant increases in cell sphericity determine the severity of anemia in HS and HE, and splenectomy leads to amelioration of anemia by increasing the circulatory red cell life span. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1182/asheducation-2018.1.377DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245988PMC
November 2018
1 Read

Nano- and microscale mechanical properties of erythrocytes in hereditary spherocytosis.

J Biomech 2018 Nov 16. Epub 2018 Nov 16.

Research Institute for Applied Problems of Mathematics and Informatics, Belarusian State University, Nezavisimosti Ave., 4, 220030 Minsk, Belarus.

Hereditary spherocytosis (HS), an erythrocyte membranopathy, is a heterogeneous disease, even at the level of the erythrocyte population. The paper aims at studying the mechanical properties (the Young's modulus, median and RMS roughness of friction force maps; fractal dimension, lacunarity and spatial distribution parameters of lateral force maps) of the cell surface layer of the erythrocytes of two different morphologies (discocytes and spherocytes) in HS using atomic force microscopy. The results of spatial-spectral and fractal analysis showed that the mechanical property maps of the HS spherocyte surface were more structurally homogeneous compared to the maps of HS discocytes. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jbiomech.2018.11.017DOI Listing
November 2018
1 Read

[Application of High Resolution Melting Curve Analysis in Detection of SLC4A1 Gene Mutation in Patients with Hereditary Spherocytosis].

Zhongguo Shi Yan Xue Ye Xue Za Zhi 2018 Dec;26(6):1826-1830

Department of Laboratorial Medicine, The First Affiliated Hospital of Guangxi Medical University Nanning 530021, Guangxi Zhuang Autonomous Region, China,E-mail:

Objective: To investigate the feasibility and clinical significance of high resolution melting(HRM) curve analysis to detect SLC4A1 gene D38A and K56E mutations in the patients with hereditary spherocytosis(HS).

Methods: Peripheral blood was collected from 23 cases of HS for routine tests and their genomic DNA was extracted by routine technique. Specific primers of mutation sites D38A and K56E of SLC4A1 gene were designed. Read More

View Article

Download full-text PDF

Source
December 2018
1 Read

Hereditary spherocytosis: Retrospective evaluation of 65 children.

Turk J Pediatr 2018 ;60(3):264-269

Department of Pediatric Hematology, University of Health Sciences, Ankara Child Health and Diseases Hematology Oncology Training and Research Hospital, Ankara, Turkey.

Güngör A, Yaralı N, Fettah A, Ok-Bozkaya İ, Özbek N, Kara A. Hereditary spherocytosis: Retrospective evaluation of 65 children. Turk J Pediatr 2018; 60: 264-269. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/: 10.24953/turkjped.2018.03.005DOI Listing
January 2018
5 Reads

[Clinical manifestations of erythrocyte membrane protein coding gene mutations in hereditary spherocytosis].

Zhonghua Xue Ye Xue Za Zhi 2018 Nov;39(11):912-916

Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.

To investigate the relationship between the erythrocyte membrane protein gene mutations and the clinical severity of hereditary spherocytosis (HS). Targeted sequencings were performed on 25 HS patients, correlation between HS mutations and patients' clinical characteristics were evaluated. A total of 25 HS patients were enrolled, including 13 males and 12 females with median age of 20 (4-55) years, including 9 compensatory hemolysis patients, 9 patients with mild anemia, 3 patients with moderate anemia and 4 patients with severe anemia. Read More

View Article

Download full-text PDF

Source
November 2018
7 Reads

[The characteristic of hereditary spherocytosis related gene mutation in 37 Chinese hereditary spherocytisis patients].

Zhonghua Xue Ye Xue Za Zhi 2018 Nov;39(11):898-903

Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.

To reveal the genetic characteristics of erythrocyte membrane protein in hereditary spherocytosis (HS) in China. Next-generation sequencing technology was used to detect mutations in genes of erythrocyte membrane proteins in 51 clinically diagnosed HS patients. The relationship between gene mutations and clinical phenotypes was analyzed. Read More

View Article

Download full-text PDF

Source
November 2018

The fluid membrane determines mechanics of erythrocyte extracellular vesicles and is softened in hereditary spherocytosis.

Nat Commun 2018 11 23;9(1):4960. Epub 2018 Nov 23.

Department of Physics and Astronomy and LaserLab, Vrije Universiteit Amsterdam, 1081 HV, Amsterdam, The Netherlands.

Extracellular vesicles (EVs) are widely studied regarding their role in cell-to-cell communication and disease, as well as for applications as biomarkers or drug delivery vehicles. EVs contain membrane and intraluminal proteins, affecting their structure and thereby likely their functioning. Here, we use atomic force microscopy for mechanical characterization of erythrocyte, or red blood cell (RBC), EVs from healthy individuals and from patients with hereditary spherocytosis (HS) due to ankyrin deficiency. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-018-07445-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251882PMC
November 2018
6 Reads

Efficient method for isolation of reticulocyte RNA from healthy individuals and hemolytic anaemia patients.

J Cell Mol Med 2018 Nov 18. Epub 2018 Nov 18.

Department of Biochemistry and Bioinformatics, Faculty of Biological Sciences, University of Zielona Góra, Zielona Góra, Poland.

Despite enormous progress and development of high-throughput methods in genome-wide mRNA analyses, data on the erythroid transcriptome are still limited, even though they could be useful in medical diagnostics and personalized therapy as well as in research on normal and pathological erythroid maturation. Although obtaining normal and pathological reticulocyte transcriptome profiles should contribute greatly to our understanding of the molecular bases of terminal erythroid differentiation as well as the mechanisms of the hematological diseases, a basic limitation of these studies is the difficulty of efficient reticulocyte RNA isolation from human peripheral blood. The restricted number of possible parallel experiments primarily concern healthy individuals with the lowest number of reticulocytes in the peripheral blood and a low RNA content. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/jcmm.13951
Publisher Site
http://dx.doi.org/10.1111/jcmm.13951DOI Listing
November 2018
5 Reads

Hereditary spherocytosis presenting with branch retinal artery occlusion.

Authors:
Shinji Makino

QJM 2018 Nov 12. Epub 2018 Nov 12.

Jichi Medical University, Ophthalmology.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/qjmed/hcy261DOI Listing
November 2018
2 Reads

Response to Makino: 'Hereditary spherocytosis presenting with branch retinal artery occlusion'.

QJM 2018 Nov 3. Epub 2018 Nov 3.

Department of Endocrinology, Metabolism and Nephrology, Kochi Medical School, Kochi University, Kohasu, Oko-cho, Nankoku, Kochi, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/qjmed/hcy258DOI Listing
November 2018
1 Read

Flow Cytometric Analysis of Erythrocytes Osmotic Fragility in Hereditary Spherocytosis: A Case-Controlled Study Evaluating the Best Anticoagulant, Sample Pre-Treatment and NaCl Concentration for Reliable Screening of this Red Blood Cell Membrane Disorder.

Cytometry B Clin Cytom 2018 Nov 16;94(6):910-917. Epub 2018 Oct 16.

Sabin Laboratory, Brasília, Federal District, Brazil.

Background: The cytometric flow osmotic fragility test (FC-OFT) was recently introduced. However, the test is still under development and some variables have not yet been fully tested.

Methods: The osmotic fragility of hereditary spherocytosis (HS) cases and healthy controls were evaluated by FC-OFT using a series of tubes containing decreasing concentrations of NaCl. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/cyto.b.21733
Publisher Site
http://dx.doi.org/10.1002/cyto.b.21733DOI Listing
November 2018
9 Reads

Learning-based screening of hematologic disorders using quantitative phase imaging of individual red blood cells.

Biosens Bioelectron 2019 Jan 21;123:69-76. Epub 2018 Sep 21.

Department of Physics, Korea Advanced Institute of Science and Technology (KAIST), Daejeon 34141, Republic of Korea; KAIST Institute for Health Science and Technology, KAIST, Daejeon 34141, Republic of Korea; Tomocube, Inc., Daejeon 34051, Republic of Korea. Electronic address:

We present a rapid and label-free method for hematologic screening for diseases and syndromes, utilizing quantitative phase imaging (QPI) and machine learning. We aim to establish an efficient blood examination framework that does not suffer from the drawbacks of conventional blood assays, which are incapable of profiling single cells or require labeling procedures. Our method involves the synergistic employment of QPI and machine learning. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S09565663183076
Publisher Site
http://dx.doi.org/10.1016/j.bios.2018.09.068DOI Listing
January 2019
8 Reads

Whole-exome sequencing for the genetic diagnosis of congenital red blood cell membrane disorders in Taiwan.

Clin Chim Acta 2018 Dec 11;487:311-317. Epub 2018 Oct 11.

Department of Laboratory Medicine, China Medical University Hospital, China Medical University, Taichung, Taiwan; Epigenome Research Center, China Medical University Hospital, Taichung, Taiwan; School of Medicine, China Medical University, Taichung, Taiwan; Department of Bioinformatics and Medical Engineering, Asia University, Taichung, Taiwan; Center for Precision Medicine, China Medical University Hospital, Taichung, Taiwan. Electronic address:

Purpose: Congenital hemolytic anemia caused by red blood cell (RBC) membrane defects is a heterogeneous group of disorders. The present study aimed to search the causative gene mutations in patients with RBC membrane disorders in Taiwan.

Materials And Methods: Next-generation sequencing approach using whole-exome sequencing (WES) was performed. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00098981183054
Publisher Site
http://dx.doi.org/10.1016/j.cca.2018.10.020DOI Listing
December 2018
2 Reads

Old and new insights into the diagnosis of hereditary spherocytosis.

Authors:
Olga Ciepiela

Ann Transl Med 2018 Sep;6(17):339

Department of Laboratory Diagnostics, Medical University of Warsaw, Warsaw, Poland.

Hereditary spherocytosis (HS) belongs to the group of congenital hemolytic anemias resulting from plasma membrane protein deficiency. When diagnosed too late, HS bares the risk of long-term complications including gall stones and severe anemia. Here, there are discussed advances in HS screening and diagnostics, with a particular focus on methodologies, most of which are available in clinical laboratories worldwide. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.21037/atm.2018.07.35DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6174190PMC
September 2018
3 Reads

Extramedullary hematopoiesis of the sphenoid sinus associated with hereditary spherocytosis: A case report.

Int J Pediatr Otorhinolaryngol 2018 Nov 10;114:1-4. Epub 2018 Aug 10.

Department of Otolaryngology, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH, 43205, USA. Electronic address:

Extramedullary hematopoiesis is a rare cause of a sinonasal mass that presents unique diagnostic and treatment challenges. While there are numerous reports of patients with hereditary spherocytosis developing extramedullary hematopoiesis in the posterior mediastinum, involvement in the paranasal sinuses has not previously been described. Here, we present the first case of a patient with hereditary spherocytosis developing extramedullary hematopoiesis in the sphenoid sinus. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S01655876183039
Publisher Site
http://dx.doi.org/10.1016/j.ijporl.2018.08.012DOI Listing
November 2018
6 Reads

Severe nondominant hereditary spherocytosis in an infant with coinheritance of three rare alpha-spectrin gene defects.

Pediatr Blood Cancer 2019 Jan 25;66(1):e27480. Epub 2018 Sep 25.

Department of Pediatrics, Division of Pediatric Hematology Oncology, Rush University Medical Center, Chicago, Illinois.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/pbc.27480DOI Listing
January 2019
1 Read

Hereditary spherocytosis presenting with branch retinal artery occlusion.

QJM 2018 Dec;111(12):899-900

Department of Endocrinology, Metabolism and Nephrology, Kochi Medical School, Kochi University, Oko-cho, Nankoku, Kochi, Japan.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/qjmed/hcy211DOI Listing
December 2018
1 Read

Spectrum of Ankyrin Mutations in Hereditary Spherocytosis: A Case Report and Review of the Literature.

Acta Haematol 2018 18;140(2):77-86. Epub 2018 Sep 18.

Department of Pediatrics, Third Xiangya Hospital of Central South University, Changsha, China.

Background/aims: Hereditary spherocytosis (HS) is a common pediatric hemolytic anemia caused by congenital red blood cell defects. HS due to ankyrin 1 (ANK1) mutations is the most common type. We explored an ANK1 mutation from an HS patient and reviewed the literature. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000492024DOI Listing
September 2018
1 Read

How I do in front of an hemolytic anemia of unknown etiology?

Ann Biol Clin (Paris) 2018 Oct;76(5):493-503

Groupement de coopération sanitaire de Saintonge, Centres hospitaliers de Saintes et Royan, Vaux-sur-mer, France, Service de médecine interne, Centre hospitalier de Royan, Vaux-sur-mer, France.

The most frequent causes of hemolytic anemias are immune or infectious diseases, drug induced hemolysis, thrombotic microangiopathies, hereditary spherocytosis, glucose-6-phosphate dehydrogenase or pyruvate kinase deficiencies, thalassemia's and sickle cell disease. Sometimes no cause is found because a rarer etiology is involved. The goal of this review is to remember some unfrequent constitutional or acquired causes and to point out difficulties to avoid wrong interpretations of analysis results. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/abc.2018.1381DOI Listing
October 2018
10 Reads

Laparoscopic splenectomy for hereditary spherocytosis. A case series and review of the literature.

Ann Ital Chir 2018 Jul 11;7. Epub 2018 Jul 11.

Hereditary spherocytosis (HS) is a common inherited hemolytic anemia caused by a defective erythrocyte cellular membrane. Irrespective of type of surgery performed, several case reports comparing the two type of procedures, have not proven any significant difference between serum bilirubin, serum hemoglobin, red blood cells' and platelets' count, in the followup period at 6 and 12 months respectively, even if platelet count has maintained high for the first 6 months postoperatively, justifying an oral antiplatelet therapy for this time interval. In the present work, we present the use of LS as the treatment of choice for HS as a case series, with all the characteristics. Read More

View Article

Download full-text PDF

Source
July 2018
14 Reads
0.680 Impact Factor

Tokyo-1 Mutation: Hereditary Spherocytosis in a Hispanic Newborn Presenting as Early Onset Severe Hyperbilirubinemia.

Fetal Pediatr Pathol 2018 Sep 12:1-5. Epub 2018 Sep 12.

a Department of Pediatrics , Icahn School of Medicine at Mount Sinai, Elmhurst Hospital Center , Elmhurst , New York , USA.

Background: Hereditary spherocytosis in the Hispanic population does not often present with severe hyperbilirubinemia. Spectrin and band 3 mutations are most frequent in this population.

Case Report: We present a Hispanic full-term female newborn with early onset significant hyperbilirubinemia without a history of familial hemolytic disorders. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1080/15513815.2018.1485797DOI Listing
September 2018
2 Reads

How I treat hypoxia in adults with hemoglobinopathies and hemolytic disorders.

Blood 2018 Oct 11;132(17):1770-1780. Epub 2018 Sep 11.

Division of Pulmonary, Critical Care, Sleep, and Occupational Medicine, Department of Medicine, Indiana University, Indianapolis, IN.

Hemoglobinopathies are caused by genetic mutations that result in abnormal hemoglobin molecules, resulting in hemolytic anemia. Chronic complications involving the lung parenchyma, vasculature, and cardiac function in hemoglobinopathies result in impaired gas exchange, resulting in tissue hypoxia. Hypoxia is defined as the deficiency in the amount of oxygen reaching the tissues of the body and is prevalent in patients with hemoglobinopathies, and its cause is often multifactorial. Read More

View Article

Download full-text PDF

Source
http://www.bloodjournal.org/lookup/doi/10.1182/blood-2018-03
Publisher Site
http://dx.doi.org/10.1182/blood-2018-03-818195DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202915PMC
October 2018
5 Reads

Surgical resection of extramedullary haematopoiesis in the posterior mediastinum.

Respirol Case Rep 2018 Oct 6;6(7):e00358. Epub 2018 Sep 6.

Department of Surgery Kurume University Fukuoka Japan.

Extramedullary haematopoiesis is a rare disease that is usually associated with haematologic disorders such as thalassemia, myelodysplastic syndrome, and hereditary spherocytosis. It frequently occurs in the liver, spleen, and lymph nodes. Rarely, it occurs in the posterior mediastinum. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/rcr2.358DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6127221PMC
October 2018
2 Reads

Mechanics of diseased red blood cells in human spleen and consequences for hereditary blood disorders.

Proc Natl Acad Sci U S A 2018 09 6;115(38):9574-9579. Epub 2018 Sep 6.

Nanyang Technological University, 639798, Singapore

In red blood cell (RBC) diseases, the spleen contributes to anemia by clearing the damaged RBCs, but its unique ability to mechanically challenge RBCs also poses the risk of inducing other pathogenic effects. We have analyzed RBCs in hereditary spherocytosis (HS) and hereditary elliptocytosis (HE), two typical examples of blood disorders that result in membrane protein defects in RBCs. We use a two-component protein-scale RBC model to simulate the traversal of the interendothelial slit (IES) in the human spleen, a stringent biomechanical challenge on healthy and diseased RBCs that cannot be directly observed in vivo. Read More

View Article

Download full-text PDF

Source
http://www.pnas.org/lookup/doi/10.1073/pnas.1806501115
Publisher Site
http://dx.doi.org/10.1073/pnas.1806501115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6156670PMC
September 2018
10 Reads

Screening of hereditary spherocytosis and pyruvate kinase deficiency by automated blood count using erythrocytic and reticulocytic parameters.

Int J Lab Hematol 2018 Dec 5;40(6):697-703. Epub 2018 Sep 5.

Department of Biological Hematology, Rouen University Hospital, Rouen, France.

Introduction: Development of additional parameters for complete blood count has emerged in recent hematology analyzers, leading to many publications. However, few studies have been conducted on advanced RBC parameters and hemolytic anemias. We investigated the interest of Sysmex unique parameters, MicroR and HypoHe, as well as the immature fraction of reticulocytes (IRF) in combination with complete blood and reticulocyte count, for screening hereditary spherocytosis (HS) and pyruvate kinase deficiency. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/ijlh.12906
Publisher Site
http://dx.doi.org/10.1111/ijlh.12906DOI Listing
December 2018
10 Reads

Organ involvement occurs in all forms of hereditary haemolytic anaemia.

Br J Haematol 2018 Sep 5. Epub 2018 Sep 5.

Van Creveldkliniek, University Medical Centre Utrecht, Utrecht, Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/bjh.15575DOI Listing
September 2018
2 Reads

A Case of Glaucoma in Hereditary Spherocytosis.

J Glaucoma 2018 Dec;27(12):e187-e190

Department of Surgery, The University of Melbourne.

Purpose: To report a case of glaucoma and the inherited red cell membranopathy hereditary spherocytosis diagnosed simultaneously in 2 individuals in a family.

Patient: A 66-year-old man with normal pressure glaucoma and hereditary spherocytosis.

Results: This patient presented with a branch retinal vein occlusion, and normal tension glaucoma that was incidentally detected. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/IJG.0000000000001075DOI Listing
December 2018
6 Reads

Challenges and Results of Laparoscopic Splenectomy for Hematological Diseases in a Developing Country.

Minim Invasive Surg 2018 1;2018:4256570. Epub 2018 Aug 1.

Clinical Hematology and Bone Marrow Transplant Unit, Department of Medicine, Civil Service Hospital of Nepal, Kathmandu, Nepal.

Introduction: Though, in developed countries, laparoscopy is now a gold standard for splenectomy, we are lacking in this aspect in the eastern world. Splenectomy has mostly been performed by open surgery in our region. This is our effort to introduce laparoscopic splenectomy in our country. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1155/2018/4256570DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6093075PMC
August 2018
3 Reads

Flow Cytometric Eosin-5'-Maleimide Test is a Sensitive Screen for Hereditary Spherocytosis.

Indian J Hematol Blood Transfus 2018 Jul 6;34(3):491-494. Epub 2017 Dec 6.

Anand Diagnostic Laboratory, 54, Bowring Tower, Bowring Hospital Road, Shivajinagar, Bengaluru, Karnataka 560001 India.

Hereditary spherocytosis (HS) is a clinically heterogeneous disease characterized by mild to moderate hemolysis resulting from red cell membrane protein defects. Diagnostic tests include hemogram, reticulocyte count and blood smear evaluation, osmotic fragility, cryohemolysis, SDS-PAGE, flow cytometry using eosin-5'-maleimide (EMA) and genetic studies. We evaluated the flow cytometric EMA-binding test and compared it with osmotic fragility in 51 consecutive cases of suspected HS aged between 10 days and 62 years. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12288-017-0907-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081319PMC
July 2018
1 Read

Synergistic Integration of Laboratory and Numerical Approaches in Studies of the Biomechanics of Diseased Red Blood Cells.

Biosensors (Basel) 2018 Aug 10;8(3). Epub 2018 Aug 10.

Division of Applied Mathematics, Brown University, Providence, RI 02912, USA.

In red blood cell (RBC) disorders, such as sickle cell disease, hereditary spherocytosis, and diabetes, alterations to the size and shape of RBCs due to either mutations of RBC proteins or changes to the extracellular environment, lead to compromised cell deformability, impaired cell stability, and increased propensity to aggregate. Numerous laboratory approaches have been implemented to elucidate the pathogenesis of RBC disorders. Concurrently, computational RBC models have been developed to simulate the dynamics of RBCs under physiological and pathological conditions. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/bios8030076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6164935PMC
August 2018
3 Reads

[Rare diseases recognizable from blood smears].

Internist (Berl) 2018 Oct;59(10):1106-1113

Klinik für Hämatologie, Onkologie und Immunologie, Universitätsklinikum Gießen und Marburg, Standort Marburg, Philipps-Universität Marburg, Baldingerstr., 35043, Marburg, Deutschland.

The examination of peripheral blood smears is not only essential for the differential diagnostics of hematological diseases but can also provide important indications for general internal diseases, infections, hereditary diseases and poisoning. By the systematic analysis of a blood smear for alterations to thrombocytes, erythrocytes and leukocytes, a blood smear investigation can make a decisive contribution to the formulation of a diagnosis. In this way evidence of rare diseases can also be gained when taking the corresponding clinical findings into consideration. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00108-018-0467-5DOI Listing
October 2018
2 Reads

Moyamoya disease associated with hereditary spherocytosis.

Neurol India 2018 Jul-Aug;66(4):1174-1175

Comprehensive Stroke Care Program, Department of Neurology, Sree Chitra Tirunal Institute for Medical Sciences and Technology, Thiruvananthapuram, Kerala, India.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/0028-3886.237016DOI Listing
July 2018
2 Reads

Assessment of the red blood cell proteome in a dog with unexplained hemolytic anemia.

Vet Clin Pathol 2018 Sep 19;47(3):377-385. Epub 2018 Jul 19.

School of Cellular and Molecular Medicine, University of Bristol, Bristol, UK.

A 7-year-old female neutered Jack Russell Terrier was presented to Langford Vets, the University of Bristol, with a history of chronic intermittent lethargy. Investigations and clinical course were compatible with hereditary hemolysis due to a red blood cell membrane defect. Proteomics was used to explore protein alterations in the presence of a hypothesized red blood cell membrane protein deficiency. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/vcp.12627DOI Listing
September 2018
20 Reads

Analysis of the causes of the misdiagnosis of hereditary spherocytosis.

Oncol Rep 2018 Sep 13;40(3):1451-1458. Epub 2018 Jul 13.

Department of Clinical Laboratory, The First Affiliated Hospital of Guangxi Medical University, Nanning, Guangxi 530021, Zhuang Autonomous Region, P.R. China.

Hereditary spherocytosis (HS) is an inherited hemolytic disease with clinical diversities. The aim of the present study was to examine the reasons for prolonged misdiagnosis and mistherapy of HS in a Chinese patient, and to summarize the laboratory screening and treatment methods for this disease in increasing the knowledge towards HS. Clinical data of the proband was reviewed. Read More

View Article

Download full-text PDF

Source
http://www.spandidos-publications.com/10.3892/or.2018.6578
Publisher Site
http://dx.doi.org/10.3892/or.2018.6578DOI Listing
September 2018
13 Reads

[Human parvovirus B19-induced hemophagocytic lymphohistiocytosis and myocarditis in an adult patient with hereditary spherocytosis].

Rinsho Ketsueki 2018 ;59(6):682-687

Department of Hematology, Saitama Medical Center, Saitama Medical University.

Human parvovirus B19 (HPV-B19) causes hemophagocytic lymphohistiocytosis (HLH). Here we describe a 35-year-old female with hereditary spherocytosis (HS) who developed HLH due to HPV-B19 infection. Upon admission, she had high fever and diarrhea. Read More

View Article

Download full-text PDF

Source
https://www.jstage.jst.go.jp/article/rinketsu/59/6/59_682/_a
Publisher Site
http://dx.doi.org/10.11406/rinketsu.59.682DOI Listing
January 2018
17 Reads

Next-generation sequencing identified a novel SPTB frameshift insertion causing hereditary spherocytosis in China.

Ann Hematol 2018 Jul 1. Epub 2018 Jul 1.

Institute of Reproduction and Stem Cell Engineering, School of Basic Medicine, Central South University, Changsha, 410078, Hunan, People's Republic of China.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00277-018-3417-3DOI Listing
July 2018
2 Reads

Squeezing for Life - Properties of Red Blood Cell Deformability.

Front Physiol 2018 1;9:656. Epub 2018 Jun 1.

Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fphys.2018.00656DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5992676PMC
June 2018
2 Reads

High-throughput microsphiltration to assess red blood cell deformability and screen for malaria transmission-blocking drugs.

Nat Protoc 2018 Jun 24;13(6):1362-1376. Epub 2018 May 24.

Diseases of the Developing World (DDW), GlaxoSmithKline, Tres Cantos, Spain.

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. Compound-exposed gametocytes are loaded into microsphiltration plates, filtered and then transferred to imaging plates for analysis. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/nprot.2018.035DOI Listing
June 2018
4 Reads

Label-Free Optical Marker for Red-Blood-Cell Phenotyping of Inherited Anemias.

Anal Chem 2018 Jun 4;90(12):7495-7501. Epub 2018 Jun 4.

Institute of Applied Sciences and Intelligent Systems, ISASI, "E. Caianiello" , CNR , Via Campi Flegrei 34 , 80078 Pozzuoli , NA , Italy.

The gold-standard methods for anemia diagnosis are complete blood counts and peripheral-smear observations. However, these do not allow for a complete differential diagnosis as that requires biochemical assays, which are 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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1021/acs.analchem.8b01076DOI Listing
June 2018
7 Reads

[Comparison of hemolytic characteristics among paroxysmal nocturnal hemoglobinuria, autoimmune hemolytic anemia and hereditary spherocytosis].

Zhonghua Xue Ye Xue Za Zhi 2018 Apr;39(4):299-304

Institute of Hematology and Blood Diseases Hospital, CAMS & PUMC, Tianjin 300020, China.

To determine the valuable hemolytic characteristics in differential diagnosis of paroxysmal nocturnal hemoglobinuria (PNH), autoimmune hemolytic anemia (AIHA) and hereditary spherocytosis (HS). 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. ①Reticulocyte percentage (Ret%) of PNH patients [6. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3760/cma.j.issn.0253-2727.2018.04.008DOI Listing
April 2018
2 Reads

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.

Front Physiol 2018 27;9:451. Epub 2018 Apr 27.

UOC Oncoematologia, UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fphys.2018.00451DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5934481PMC
April 2018
2 Reads

Effect of inherited red cell defects on growth of : An study.

Indian J Med Res 2018 Jan;147(1):102-109

Surat Raktadan Kendra & Research Centre, Udhna Khatodara Urban Health Centre, Surat, India.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.4103/ijmr.IJMR_1146_16DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5967204PMC
January 2018
2 Reads

Quantitative measurement of red cell surface protein expression reveals new biomarkers for hereditary spherocytosis.

Int J Lab Hematol 2018 08 10;40(4):e74-e77. Epub 2018 May 10.

Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, Utrecht University, Utrecht, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/ijlh.12841DOI Listing
August 2018
2 Reads

Cytoskeleton Remodeling Induces Membrane Stiffness and Stability Changes of Maturing Reticulocytes.

Biophys J 2018 Apr;114(8):2014-2023

Division of Applied Mathematics, Brown University, Providence, Rhode Island. Electronic address:

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.bpj.2018.03.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5937146PMC
April 2018
3 Reads

Cryohemolysis, erythrocyte osmotic fragility, and supplementary hematimetric indices in the diagnosis of hereditary spherocytosis.

Blood Res 2018 Mar 27;53(1):10-17. Epub 2018 Mar 27.

Instituto de Bioquímica Aplicada, Facultad de Bioquímica, Química y Farmacia, Universidad Nacional de Tucumán, Tucumán, Argentina.

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. Read More

View Article

Download full-text PDF

Source
https://synapse.koreamed.org/DOIx.php?id=10.5045/br.2018.53.
Publisher Site
http://dx.doi.org/10.5045/br.2018.53.1.10DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5898988PMC
March 2018
6 Reads

Analysis of erythrocyte membrane proteins in patients with hereditary spherocytosis and other types of haemolytic anaemia.

Hematology 2018 Oct 6;23(9):669-675. Epub 2018 Apr 6.

a Department of Biotechnology , Tokyo Denki University , Tokyo , Japan.

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. Read More

View Article

Download full-text PDF

Source
https://www.tandfonline.com/doi/full/10.1080/10245332.2018.1
Publisher Site
http://dx.doi.org/10.1080/10245332.2018.1455278DOI Listing
October 2018
14 Reads

Pulmonary hypertension in chronic hemolytic anemias: Pathophysiology and treatment.

Respir Med 2018 04 28;137:191-200. Epub 2018 Feb 28.

University of Pennsylvania, USA.

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. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.rmed.2018.02.020DOI Listing
April 2018
2 Reads