810 results match your criteria Elliptocytosis Hereditary


Hereditary elliptocytosis of donor red blood cell unit detected during Coombs crossmatch.

Transfusion 2019 Feb;59(2):446-447

Department of Pathology and Laboratory Medicine, New York-Presbyterian Hospital, Weill Cornell Medicine, New York, New York.

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http://dx.doi.org/10.1111/trf.14981DOI Listing
February 2019
2 Reads
3.225 Impact Factor

Inherited hemolytic anemia: a possessive beginner's guide.

Authors:
Narla Mohandas

Hematology Am Soc Hematol Educ Program 2018 11;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

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

Hereditary elliptocytosis-associated alpha-spectrin mutation p.L155dup as a modifier of sickle cell disease severity.

Pediatr Blood Cancer 2019 Feb 4;66(2):e27531. Epub 2018 Nov 4.

Cancer and Blood Diseases Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

The broad phenotypic variability among individuals with sickle cell disease (SCD) suggests the presence of modifying factors. We identified two unrelated SCD patients with unusually severe clinical and laboratory phenotype that were found to carry the hereditary elliptocytosis-associated alpha-spectrin mutation c.460_462dupTTG (p. Read More

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http://doi.wiley.com/10.1002/pbc.27531
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http://dx.doi.org/10.1002/pbc.27531DOI Listing
February 2019
18 Reads

Hereditary Elliptocytosis: A Rare Red Cell Membrane Disorder.

Indian J Hematol Blood Transfus 2018 Oct 2;34(4):754-755. Epub 2018 Aug 2.

Department of Hematogenetics, National Institute of Immunohematology (Indian Council of Medical Research), King Edward Memorial Hospital Campus, Parel, Mumbai 40012 India.

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http://dx.doi.org/10.1007/s12288-018-0986-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6186223PMC
October 2018

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

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

[Analysis of SPTA1 gene mutations in a patient with hereditary elliptocytosis].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Oct;35(5):703-706

Affiliated Hospital of Guilin Medical University, Guilin, Guangxi 541000, China.

Objective: To detect disease-causing mutations in a patient with hereditary elliptocytosis.

Methods: Sodium dodecyl sulfate polyacrylamide gel electropheresis (SDS-PAGE) was used to identify the type of erythrocyte membrane protein defect. Potential mutations of the exons and adjacent introns of relevant genes were analyzed by Sanger sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2018.05.019DOI Listing
October 2018
5 Reads

Whole-exome sequencing enables correct diagnosis and surgical management of rare inherited childhood anemia.

Cold Spring Harb Mol Case Stud 2018 Oct 1;4(5). Epub 2018 Oct 1.

Riley Hospital for Children at IU Health, Indianapolis, Indiana 46202, USA.

Correct diagnosis of inherited bone marrow failure syndromes is a challenge because of the significant overlap in clinical presentation of these disorders. Establishing right genetic diagnosis is crucial for patients' optimal clinical management and family counseling. A nondysmorphic infant reported here developed severe transfusion-dependent anemia and met clinical criteria for diagnosis of Diamond-Blackfan anemia (DBA). Read More

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http://dx.doi.org/10.1101/mcs.a003152DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169821PMC
October 2018
6 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

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

Accurate light microscopic diagnosis of South-East Asian ovalocytosis.

Int J Lab Hematol 2018 Dec 13;40(6):655-662. Epub 2018 Jul 13.

Eijkman-Oxford Clinical Research Unit, Eijkman Institute for Molecular Biology, Jakarta, Indonesia.

Introduction: South-East Asian ovalocytosis (SAO) is a common inherited red blood cell polymorphism in South-East Asian and Melanesian populations, coinciding with areas of malaria endemicity. Validation of light microscopy as a diagnostic alternative to molecular genotyping may allow for its cost-effective use either prospectively or retrospectively by analysis of archived blood smears.

Methods: We assessed light microscopic diagnosis of SAO compared to standard PCR genotyping. Read More

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http://dx.doi.org/10.1111/ijlh.12900DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6246802PMC
December 2018
14 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

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

Hereditary elliptocytosis: Variable clinical severity caused by 3 variants in the α-spectrin gene.

Int J Lab Hematol 2018 08 5;40(4):e66-e70. Epub 2018 May 5.

Children's Hospital Oakland Research Institute, Oakland, CA, USA.

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http://doi.wiley.com/10.1111/ijlh.12837
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http://dx.doi.org/10.1111/ijlh.12837DOI Listing
August 2018
4 Reads

Acquired Elliptocytosis as a Manifestation of Myelodysplastic Syndrome Associated with Deletion of Chromosome 20q.

Case Rep Hematol 2018 1;2018:6819172. Epub 2018 Feb 1.

Southern Illinois University, Springfield, IL, USA.

Elliptocytosis is commonly seen as a hereditary condition. We present a case of myelodysplastic syndrome (MDS) del(q20) variant with concomitant acquired elliptocytosis. A 73-year-old male with a history of prostate cancer presented to the hospital for evaluation of bleeding gums. Read More

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https://www.hindawi.com/journals/crihem/2018/6819172/
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http://dx.doi.org/10.1155/2018/6819172DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5816871PMC
February 2018
12 Reads

Novel compound heterozygous SPTA1 mutations in a patient with hereditary elliptocytosis.

Mol Med Rep 2018 Apr 26;17(4):5903-5911. Epub 2018 Feb 26.

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

Hereditaryelliptocytosis (HE) is a hereditary hemolytic disease, characterized by the presence of many elliptical erythrocytes in the peripheral blood that is caused by abnormal cytoskeletal proteins in the erythrocyte membrane. In the present study, a novel, causal HE mutation was reported. Routine blood examinations were performed on the proband and their family, and the fluorescence intensity of eosin‑5‑maleimide (EMA)‑labeled erythrocytes was determined via flow cytometry. Read More

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http://www.spandidos-publications.com/10.3892/mmr.2018.8632
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http://dx.doi.org/10.3892/mmr.2018.8632DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5866036PMC
April 2018
6 Reads

Cabot rings and marked anisopoikilocytosis in Imerslund-Gräsbeck syndrome.

Blood 2018 01;131(1):153

Children's Mercy Hospital.

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http://dx.doi.org/10.1182/blood-2017-10-809178DOI Listing
January 2018
11 Reads

Acquired "pyro"-poikilocytosis.

Blood 2017 12;130(25):2808

Centre Hospitalier Universitaire Nancy.

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http://dx.doi.org/10.1182/blood-2017-08-802678DOI Listing
December 2017
7 Reads

Ventricular assist device implantation in a young patient with non-compaction cardiomyopathy and hereditary spherocytosis.

Eur J Cardiothorac Surg 2018 04;53(4):879-880

Department of Cardiovascular Surgery, University Hospital Schleswig-Holstein Campus Kiel, Germany.

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. Read More

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http://dx.doi.org/10.1093/ejcts/ezx385DOI Listing
April 2018
9 Reads

Southeast asian ovalocytosis: the need for a carefull observation of red cell indices and blood smear.

Ann Biol Clin (Paris) 2017 Dec;75(6):699-702

Laboratoire d'hématologie, Hôpital Nord, Marseille, France.

Southeast asian ovalocytosis (SAO) is characterized by macro-ovalocytes and ovalo-stomatocytes on blood smear. SAO is common in Malaisia and Papua-New-Guinea where upwards to 40 per cent of the population is affected in some coastal region. Inherited in an autosomal dominant way, illness results from deletion of codons 400-408 in SLC4A1 gene which encodes for band 3 erythrocyte membrane protein. Read More

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http://dx.doi.org/10.1684/abc.2017.1291DOI Listing
December 2017
4 Reads

Osmotic gradient ektacytometry: A valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders.

Int J Lab Hematol 2018 Feb 10;40(1):94-102. Epub 2017 Oct 10.

Red Cell Pathology Unit, Hospital Clínic de Barcelona, [Institut d'Investigacions Biomèdiques August Pi I Sunyer] IDIBAPS, [Universitat de Barcelona] UB, Barcelona, Spain.

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. Read More

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http://dx.doi.org/10.1111/ijlh.12746DOI Listing
February 2018
30 Reads

Clinico-Haematological Profile of Hereditary Haemolytic Anaemias in a Tertiary Health Care Hospital in South India.

J Clin Diagn Res 2017 Jun 1;11(6):EC17-EC21. Epub 2017 Jun 1.

Professor, Department of Transfusion Medicine, St John's Medical College Hospital, Bangalore, Karnataka, India.

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%. Read More

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http://dx.doi.org/10.7860/JCDR/2017/25366.10023DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535365PMC
June 2017
14 Reads

The frequency of occurrence of fish-shaped red blood cells in different haematologic disorders.

Clin Chem Lab Med 2018 01;56(2):323-326

Division of Hematology, Medical University of Graz, Graz, Austria.

Background: Red blood cells (RBC) resembling the silhouette of a fish are rarely observed in peripheral blood (PB) smears. In this study, we determined the frequency of occurrence of fish-shaped RBC in different haematologic diseases.

Methods: We examined PB smears of patients with iron deficiency anaemia (IDA) (n=23), β-thalassaemia minor (BTM) (n=30), sickle cell disease (SCD) (n=7), autoimmune haemolytic anaemia (AIHA) (n=13), microangiopathic haemolytic anaemia (MAHA) (n=11), hereditary sphaerocytosis (HS) (n=4), hereditary elliptocytosis (HE) (n=3), vitamin B12 and folate deficiency (n=15), anaemia in liver disease (LD) (n=17), myelodysplastic syndrome (MDS) (n=15), acute myeloid leukaemia (AML) (n=29), chronic myeloid leukaemia (CML) (n=18), primary myelofibrosis (PMF) (n=12), chronic myelo-monocytic leukaemia (CMML) (n=15) and 21 healthy controls by light microscopy for the occurrence of fish-shaped erythrocytes. Read More

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http://dx.doi.org/10.1515/cclm-2017-0378DOI Listing
January 2018
17 Reads

Targeted next generation sequencing identifies a novel β-spectrin gene mutation A2059P in two Omani children with hereditary pyropoikilocytosis.

Am J Hematol 2017 10 29;92(10):E607-E609. Epub 2017 Jul 29.

Department of Molecular Medicine and Medical Biotechnology, University Federico II, Naples, Italy.

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http://dx.doi.org/10.1002/ajh.24853DOI Listing
October 2017
22 Reads

Novel mutations in patients with hereditary red blood cell membrane disorders using next-generation sequencing.

Gene 2017 Sep 8;627:556-562. Epub 2017 Jul 8.

Department of Pediatrics, The First Affiliated Hospital of Guangxi Medical University, N0.6, Shuangyong Road, Qingxiu District, Nanning, Guangxi Province 530021, PR China. Electronic address:

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. Read More

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http://dx.doi.org/10.1016/j.gene.2017.07.009DOI Listing
September 2017
19 Reads

Contribution of plasma membrane lipid domains to red blood cell (re)shaping.

Sci Rep 2017 06 27;7(1):4264. Epub 2017 Jun 27.

CELL Unit, de Duve Institute & Université catholique de Louvain, 1200, Brussels, Belgium.

Although lipid domains have been evidenced in several living cell plasma membranes, their roles remain largely unclear. We here investigated whether they could contribute to function-associated cell (re)shaping. To address this question, we used erythrocytes as cellular model since they (i) exhibit a specific biconcave shape, allowing for reversible deformation in blood circulation, which is lost by membrane vesiculation upon aging; and (ii) display at their outer plasma membrane leaflet two types of submicrometric domains differently enriched in cholesterol and sphingomyelin. Read More

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http://dx.doi.org/10.1038/s41598-017-04388-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5487352PMC
June 2017
16 Reads

Red cell membrane disorders.

Authors:
J Narla N Mohandas

Int J Lab Hematol 2017 May;39 Suppl 1:47-52

New York Blood Center, New York, NY, USA.

Significant advances have been made in our understanding of the structural basis for altered cell function in various inherited red cell membrane disorders with reduced red cell survival and resulting hemolytic anemia. The current review summarizes these advances as they relate to defining the molecular and structural basis for disorders involving altered membrane structural organization (hereditary spherocytosis [HS] and hereditary elliptocytosis [HE]) and altered membrane transport function (hereditary overhydrated stomatocytosis and hereditary xerocytosis). Mutations in genes encoding membrane proteins that account for these distinct red cell phenotypes have been identified. Read More

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http://dx.doi.org/10.1111/ijlh.12657DOI Listing
May 2017
3 Reads

Acquired elliptocytosis in the setting of a refractory anemia with excess blasts and del(20q).

Blood 2016 05 26;127(21):2646. Epub 2016 May 26.

Nantes University Hospital.

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http://dx.doi.org/10.1182/blood-2016-03-703876DOI Listing
May 2016
3 Reads

Three Novel Spectrin Variants in Jaundiced Neonates.

Clin Pediatr (Phila) 2018 Jan 15;57(1):19-26. Epub 2017 Jan 15.

1 University of Utah, Salt Lake City, UT, USA.

Various mutations in the genes encoding alpha spectrin (SPTA1) or beta spectrin (SPTB) are known to cause erythrocyte membrane disorders, sometimes associated with severe neonatal jaundice and anemia. We used a next-generation sequencing panel to evaluate 3 unrelated neonates who had puzzling cases of nonimmune hemolytic jaundice. In each case, we identified novel mutations in either SPTA1 or SPTB. Read More

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http://journals.sagepub.com/doi/10.1177/0009922816687326
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http://dx.doi.org/10.1177/0009922816687326DOI Listing
January 2018
10 Reads

X-linked elliptocytosis with impaired growth is related to mutated AMMECR1.

Gene 2017 Mar 9;606:47-52. Epub 2017 Jan 9.

Department of Cell and Developmental Biology, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address:

In this study, we report a family with X-linked recessive syndrome caused by mutated AMMECR1 and characterized by elliptocytosis with or without anemia, midface hypoplasia, proportionate short stature and hearing loss. Recently, mutations in AMMECR1 were reported in two maternal half-brothers, presenting with nephrocalcinosis, midface hypoplasia and, in one of the siblings, deafness and elliptocytosis. AMMECR1 gene is localized in the critical region of contiguous deletion syndrome on Xq22. Read More

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http://dx.doi.org/10.1016/j.gene.2017.01.001DOI Listing
March 2017
14 Reads

Effect of the Southeast Asian Ovalocytosis Deletion on the Conformational Dynamics of Signal-Anchor Transmembrane Segment 1 of Red Cell Anion Exchanger 1 (AE1, Band 3, or SLC4A1).

Biochemistry 2017 02 23;56(5):712-722. Epub 2017 Jan 23.

Department of Biochemistry, University of Toronto , 1 King's College Circle, Toronto, Ontario, Canada M5S 1A8.

The first transmembrane (TM1) helix in the red cell anion exchanger (AE1, Band 3, or SLC4A1) acts as an internal signal anchor that binds the signal recognition particle and directs the nascent polypeptide chain to the endoplasmic reticulum (ER) membrane where it moves from the translocon laterally into the lipid bilayer. The sequence N-terminal to TM1 forms an amphipathic helix that lies at the membrane interface and is connected to TM1 by a bend at Pro403. Southeast Asian ovalocytosis (SAO) is a red cell abnormality caused by a nine-amino acid deletion (Ala400-Ala408) at the N-terminus of TM1. Read More

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http://pubs.acs.org/doi/10.1021/acs.biochem.6b00966
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http://dx.doi.org/10.1021/acs.biochem.6b00966DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5299548PMC
February 2017
11 Reads

Coinheritance of Hereditary Elliptocytosis and Deletional Hemoglobin H Disease.

J Pediatr Hematol Oncol 2017 03;39(2):e69-e70

*Department of Pediatrics, Division of Hematology and Oncology †Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand.

Hereditary elliptocytosis is an inherited red blood cell membrane disorder characterized by typical peripheral blood smear findings of elliptocytes or rod-like red blood cells. Hemoglobin H disease is a form of α-thalassemia disease resulting in mild to moderate hemolytic anemia. The authors report 1 case of a girl who was diagnosed with oculo-auriculo-vertebral spectrum and a coinheritance of hereditary elliptocytosis and deletional hemoglobin H disease. Read More

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http://dx.doi.org/10.1097/MPH.0000000000000750DOI Listing
March 2017
4 Reads

Concurrent β-thalassaemia trait and Southeast Asian ovalocytosis associated with clinically significant iron loading.

Blood Cells Mol Dis 2017 03 20;63:25-26. Epub 2016 Dec 20.

Department of Haematology, Singapore General Hospital, Singapore.

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http://dx.doi.org/10.1016/j.bcmd.2016.12.007DOI Listing
March 2017
25 Reads

Computational Biomechanics of Human Red Blood Cells in Hematological Disorders.

J Biomech Eng 2017 02;139(2)

Fellow ASME Division of Applied Mathematics, Brown University, Providence, RI 02912 e-mail:

We review recent advances in multiscale modeling of the biomechanical characteristics of red blood cells (RBCs) in hematological diseases, and their relevance to the structure and dynamics of defective RBCs. We highlight examples of successful simulations of blood disorders including malaria and other hereditary disorders, such as sickle-cell anemia, spherocytosis, and elliptocytosis. Read More

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http://dx.doi.org/10.1115/1.4035120DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5395917PMC
February 2017
18 Reads

: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis.

J Med Genet 2017 04 3;54(4):269-277. Epub 2016 Nov 3.

Human Genetics & Genomic Medicine, University of Southampton, Duthie Building (Mailpoint 808), Southampton General Hospital, Southampton, UK.

Background: Deletions in the Xq22.3-Xq23 region, inclusive of , have been associated with a contiguous gene deletion syndrome characterised by lport syndrome with intellectual disability (ental retardation), idface hypoplasia and lliptocytosis (AMME). The extrarenal biological and clinical significance of neighbouring genes to the Alport locus has been largely speculative. Read More

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http://dx.doi.org/10.1136/jmedgenet-2016-104100DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5502304PMC
April 2017
16 Reads
1 Citation
6.340 Impact Factor

MD/DPD Multiscale Framework for Predicting Morphology and Stresses of Red Blood Cells in Health and Disease.

PLoS Comput Biol 2016 Oct 28;12(10):e1005173. Epub 2016 Oct 28.

Division of Applied Mathematics, Brown University, Providence, Rhode Island, United States of America.

Healthy red blood cells (RBCs) have remarkable deformability, squeezing through narrow capillaries as small as 3 microns in diameter without any damage. However, in many hematological disorders the spectrin network and lipid bilayer of diseased RBCs may be significantly altered, leading to impaired functionality including loss of deformability. We employ a two-component whole-cell multiscale model to quantify the biomechanical characteristics of the healthy and diseased RBCs, including Plasmodium falciparum-infected RBCs (Pf-RBCs) and defective RBCs in hereditary disorders, such as spherocytosis and elliptocytosis. Read More

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http://dx.doi.org/10.1371/journal.pcbi.1005173DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5085038PMC
October 2016
14 Reads

An usual cause of elliptocytosis.

Ann Biol Clin (Paris) 2016 Dec;74(6):704-707

Service d'hématologie biologique, Pôle laboratoires, Centre hospitalier universitaire de Nancy, France.

We report a 60-year-old adult case with a normocytic normochromic regenerative anemia discovered incidentally. The objectification of elliptocytosis accompanied by splenomegaly, a collagen myelofibrosis and the presence of the mutation JAK2V617F allowed the diagnosis of primary myelofibrosis with atypical initial presentation. The causes of elliptocytoses are discussed. Read More

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http://www.john-libbey-eurotext.fr/medline.md?doi=10.1684/ab
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http://dx.doi.org/10.1684/abc.2016.1191DOI Listing
December 2016
10 Reads

Genotype-phenotype correlations in hereditary elliptocytosis and hereditary pyropoikilocytosis.

Blood Cells Mol Dis 2016 10 17;61:4-9. Epub 2016 Jul 17.

Division of Hematology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Hereditary elliptocytosis (HE) and hereditary pyropoikilocytosis (HPP) are heterogeneous red blood cell (RBC) membrane disorders that result from mutations in the genes encoding α-spectrin (SPTA1), β-spectrin (SPTB), or protein 4.1R (EPB41). The resulting defects alter the horizontal cytoskeletal associations and affect RBC membrane stability and deformability causing shortened RBC survival. Read More

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http://dx.doi.org/10.1016/j.bcmd.2016.07.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5098801PMC
October 2016
51 Reads

Exome sequencing results in successful diagnosis and treatment of a severe congenital anemia.

Cold Spring Harb Mol Case Stud 2016 Jul;2(4):a000885

Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts 02115, USA;; Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, Massachusetts 02115, USA;; Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA;

Whole-exome sequencing is increasingly used for diagnosis and identification of appropriate therapies in patients. Here, we present the case of a 3-yr-old male with a lifelong and severe transfusion-dependent anemia of unclear etiology, despite an extensive clinical workup. Given the difficulty of making the diagnosis and the potential side effects from performing interventions in patients with a congenital anemia of unknown etiology, we opted to perform whole-exome sequencing on the patient and his parents. Read More

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http://dx.doi.org/10.1101/mcs.a000885DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4990811PMC
July 2016
12 Reads

Red blood cell-derived microparticles: An overview.

Blood Cells Mol Dis 2016 07 13;59:134-9. Epub 2016 Apr 13.

Department of Haematology, University College London, 72 Huntley Street, London N I 4Pz, UK.

The red blood cell (RBC) is historically the original parent cell of microparticles (MPs). In this overview, we describe the discovery and the early history of red cell-derived microparticles (RMPs) and present an overview of the evolution of RMP. We report the formation, characteristics, effects of RMP and factors which may affect RMP evaluation. Read More

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http://dx.doi.org/10.1016/j.bcmd.2016.04.003DOI Listing
July 2016
3 Reads

Hereditary Pyropoikilocytosis: A Rare But Not Uncommon Disease.

S D Med 2016 May;69(5):208-209

Department of Pathology, University of South Dakota Sanford School of Medicine.

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May 2016
9 Reads

Band 3, the human red cell chloride/bicarbonate anion exchanger (AE1, SLC4A1), in a structural context.

Biochim Biophys Acta 2016 Jul 6;1858(7 Pt A):1507-32. Epub 2016 Apr 6.

Division of Molecular Biosciences, Imperial College London, London, SW7 2AZ, UK.

The crystal structure of the dimeric membrane domain of human Band 3(1), the red cell chloride/bicarbonate anion exchanger 1 (AE1, SLC4A1), provides a structural context for over four decades of studies into this historic and important membrane glycoprotein. In this review, we highlight the key structural features responsible for anion binding and translocation and have integrated the following topological markers within the Band 3 structure: blood group antigens, N-glycosylation site, protease cleavage sites, inhibitor and chemical labeling sites, and the results of scanning cysteine and N-glycosylation mutagenesis. Locations of mutations linked to human disease, including those responsible for Southeast Asian ovalocytosis, hereditary stomatocytosis, hereditary spherocytosis, and distal renal tubular acidosis, provide molecular insights into their effect on Band 3 folding. Read More

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http://dx.doi.org/10.1016/j.bbamem.2016.03.030DOI Listing
July 2016
18 Reads

A SEVEN-YEAR-OLD MALE WITH CIRCULATING RED BLOOD CELLS SHOWING A THERMAL INJURY-LIKE MORPHOLOGY.

J La State Med Soc 2016 Jan-Feb;168(1):6-7. Epub 2016 Feb 15.

Dr. Cotelingam is associated with the Department of Pathology.

A seven-year-old African-American male presented with a history of hematuria, proteinuria, jaundice, and anemia occasionally treated with transfusions since early childhood. The family history included a father and sister with similar symptoms of anemia, both of which had been diagnosed with hereditary pyropoikilocytosis. Due to the patient's family history and symptoms indicating a possible hematologic problem, a blood draw was performed. Read More

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August 2017
5 Reads

Modeling of band-3 protein diffusion in the normal and defective red blood cell membrane.

Soft Matter 2016 Apr;12(15):3643-53

Department of Mechanical Engineering, University of Connecticut, 191 Auditorium Road, Unit 3139, Storrs, CT 06269-3139, USA. and Department of Biomedical Engineering, University of Connecticut, Storrs, CT 06269, USA.

We employ a two-component red blood cell (RBC) membrane model to simulate lateral diffusion of band-3 proteins in the normal RBC and in the RBC with defective membrane proteins. The defects reduce the connectivity between the lipid bilayer and the membrane skeleton (vertical connectivity), or the connectivity of the membrane skeleton itself (horizontal connectivity), and are associated with the blood disorders of hereditary spherocytosis (HS) and hereditary elliptocytosis (HE) respectively. Initially, we demonstrate that the cytoskeleton limits band-3 lateral mobility by measuring the band-3 macroscopic diffusion coefficients in the normal RBC membrane and in a lipid bilayer without the cytoskeleton. Read More

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http://dx.doi.org/10.1039/c4sm02201gDOI Listing
April 2016
5 Reads

Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.

Clin Genet 2016 07 15;90(1):69-78. Epub 2016 Mar 15.

Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

The aim of this study was to describe the mutational characteristics in Korean hereditary spherocytosis (HS) patients. Relevant literatures including genetically confirmed cases with well-documented clinical summaries and relevant information were also reviewed to investigate the mutational gene- or domain-specific laboratory and clinical association. Twenty-five HS patients carried one heterozygous mutation of ANK1 (n = 13) or SPTB (n = 12) but not in SPTA1, SLC4A1, or EPB42. Read More

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http://dx.doi.org/10.1111/cge.12749DOI Listing
July 2016
13 Reads

Diagnostic tool for red blood cell membrane disorders: Assessment of a new generation ektacytometer.

Blood Cells Mol Dis 2016 Jan 16;56(1):9-22. Epub 2015 Sep 16.

Red Cell physiology laboratory, New York Blood Center (NYBC), New York, USA.

Inherited red blood cell (RBC) membrane disorders, such as hereditary spherocytosis, elliptocytosis and hereditary ovalocytosis, result from mutations in genes encoding various RBC membrane and skeletal proteins. The RBC membrane, a composite structure composed of a lipid bilayer linked to a spectrin/actin-based membrane skeleton, confers upon the RBC unique features of deformability and mechanical stability. The disease severity is primarily dependent on the extent of membrane surface area loss. Read More

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http://dx.doi.org/10.1016/j.bcmd.2015.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811191PMC
January 2016
8 Reads

Characterization of iron metabolism and erythropoiesis in erythrocyte membrane defects and thalassemia traits.

Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub 2016 Jun 27;160(2):231-7. Epub 2015 Oct 27.

Department of Pediatrics, Faculty of Medicine and Dentistry, Palacky University Olomouc and University Hospital Olomouc, Czech Republic.

Background And Aims: Erythropoiesis is closely related to iron metabolism in a balanced homeostasis. Analyses of diverse erythroid and iron metabolism disorders have shown that disrupted erythropoiesis negatively affects iron homeostasis and vice versa. The aim of this study was to characterize the relationship between erythropoietic activity and iron homeostasis in pediatric patients with erythrocyte membrane defects and thalassemia traits. Read More

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http://biomed.papers.upol.cz/doi/10.5507/bp.2015.054.pdf
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http://biomed.papers.upol.cz/doi/10.5507/bp.2015.054.html
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http://dx.doi.org/10.5507/bp.2015.054DOI Listing
June 2016
33 Reads

Analysis of Hereditary Elliptocytosis with Decreased Binding of Eosin-5-maleimide to Red Blood Cells.

Biomed Res Int 2015 18;2015:451861. Epub 2015 Oct 18.

Department of Laboratory Medicine, Kawasaki Medical School, Kurashiki, Japan.

Flow cytometric test for analyzing the eosin-5-maleimide (EMA) binding to red blood cells has been believed to be a specific method for diagnosing hereditary spherocytosis (HS). However, it has been reported that diseases other than HS, such as hereditary pyropoikilocytosis (HPP) and Southeast Asian ovalocytosis (SAO), which are forms in the category of hereditary elliptocytosis (HE), show decreased EMA binding to red blood cells. We analyzed EMA binding to red blood cells in 101 healthy control subjects and 42 HS patients and obtained a mean channel fluorescence (MCF) cut-off value of 36. Read More

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http://www.hindawi.com/journals/bmri/2015/451861/
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http://dx.doi.org/10.1155/2015/451861DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628755PMC
August 2016
21 Reads

The human Kell blood group binds the erythroid 4.1R protein: new insights into the 4.1R-dependent red cell membrane complex.

Br J Haematol 2015 Dec 12;171(5):862-71. Epub 2015 Oct 12.

Institut National de la Transfusion Sanguine, Paris, France.

Protein 4.1R plays an important role in maintaining the mechanical properties of the erythrocyte membrane. We analysed the expression of Kell blood group protein in erythrocytes from a patient with hereditary elliptocytosis associated with complete 4. Read More

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http://dx.doi.org/10.1111/bjh.13778DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4715498PMC
December 2015
13 Reads

Hereditary Elliptocytosis with Pyropoikilocytosis.

Turk J Haematol 2016 Mar 6;33(1):86-7. Epub 2015 Aug 6.

Hacettepe University Faculty of Medicine, Department of Pediatric Hematology, Ankara, Turkey. E-mail:

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http://dx.doi.org/10.4274/tjh.2015.0054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4805353PMC
March 2016
8 Reads