830 results match your criteria Elliptocytosis Hereditary


Aberrant Membrane Composition and Biophysical Properties Impair Erythrocyte Morphology and Functionality in Elliptocytosis.

Biomolecules 2020 Jul 29;10(8). Epub 2020 Jul 29.

CELL Unit & PICT imaging Platform, de Duve Institute, UCLouvain, 1200 Brussels, Belgium.

Red blood cell (RBC) deformability is altered in inherited RBC disorders but the mechanism behind this is poorly understood. Here, we explored the molecular, biophysical, morphological, and functional consequences of α-spectrin mutations in a patient with hereditary elliptocytosis (pEl) almost exclusively expressing the Pro260 variant of SPTA1 and her mother (pElm), heterozygous for this mutation. At the molecular level, the pEI RBC proteome was globally preserved but spectrin density at cell edges was increased. Read More

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http://dx.doi.org/10.3390/biom10081120DOI Listing

Clinical Diagnosis of Red Cell Membrane Disorders: Comparison of Osmotic Gradient Ektacytometry and Eosin Maleimide (EMA) Fluorescence Test for Red Cell Band 3 (AE1, SLC4A1) Content for Clinical Diagnosis.

Front Physiol 2020 19;11:636. Epub 2020 Jun 19.

Children's Hospital of Michigan, Detroit, MI, United States.

The measurement of band 3 (AE1, SLC4A1, CD233) content of red cells by eosin-5- maleimide (EMA) staining is swiftly replacing conventional osmotic fragility (OF) test as a tool for laboratory confirmation of hereditary spherocytosis across the globe. Our group has systematically evaluated the EMA test as a method to screen for a variety of anemias in the last 10 years, and compared these results to those obtained with the osmotic gradient ektacytometry (osmoscans) which we have used over three decades. Our overall experience allowed us to characterize the distinctive patterns with the two tests in several congenital erythrocyte membrane disorders, such as hereditary spherocytosis (HS), hereditary elliptocytosis (HE), Southeast Asian Ovalocytosis (SAO), hereditary pyropoikilocytosis (HPP) variants, erythrocyte volume disorders, various red cell enzymopathies, and hemoglobinopathies. Read More

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http://dx.doi.org/10.3389/fphys.2020.00636DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7318840PMC

Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis.

Blood Cells Mol Dis 2020 Jun 25;85:102462. Epub 2020 Jun 25.

Division of Neonatology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, United States of America; Division of Hematology/Oncology, Department of Pediatrics, University of Utah Health, Salt Lake City, UT, United States of America.

Dizygotic twin males, born at 34 weeks gestation, had prolonged jaundice, microcytic, hypochromic anemia, FABarts hemoglobin, elevated end-tidal CO, and blood films consistent with hereditary pyropoikilocytosis. DNA sequencing revealed both had a heterozygous alpha spectrin (SPTA1) mutation (c.460_462dup) inherited from their asymptomatic mother, plus a 3-base pair duplication in alpha globin (HBA2) (c. Read More

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http://dx.doi.org/10.1016/j.bcmd.2020.102462DOI Listing

The spectrin-based membrane skeleton is asymmetric and remodels during neural development in .

J Cell Sci 2020 Aug 5;133(15). Epub 2020 Aug 5.

Tsinghua-Peking Center for Life Sciences, Beijing Frontier Research Center for Biological Structure, McGovern Institute for Brain Research, School of Life Sciences and MOE Key Laboratory for Protein Science, Tsinghua University, Beijing 100084, China

Perturbation of spectrin-based membrane mechanics causes hereditary elliptocytosis and spinocerebellar ataxia, but the underlying cellular basis of pathogenesis remains unclear. Here, we introduced conserved disease-associated spectrin mutations into the genome and studied the contribution of spectrin to neuronal migration and dendrite formation in developing larvae. The loss of spectrin resulted in ectopic actin polymerization outside of the existing front and secondary membrane protrusions, leading to defective neuronal positioning and dendrite morphology in adult animals. Read More

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http://dx.doi.org/10.1242/jcs.248583DOI Listing
August 2020
5.432 Impact Factor

Differential diagnosis of hereditary hemolytic anemias in a single multiscreening test by TGA/chemometrics.

Chem Commun (Camb) 2020 Jul 18;56(55):7557-7560. Epub 2020 Jun 18.

Department of Chemistry -"Sapienza" University of Rome, P.le A.Moro 5, 00185 Rome, Italy.

A multi-screening test based on the coupling of thermogravimetry and chemometrics was optimized for the differential diagnosis of hereditary hemolytic anemias. The novel test is able to simultaneously perform a simple and fast diagnosis of sickle cell anemia, thalassemia, hereditary spherocytosis and hereditary elliptocytosis in a single analysis of a few microliters of non-pretreated whole blood. The thermogravimetric profile of blood from patients affected by such disorders was found to be characteristic of a specific anemic status or a disorder due to membrane defects. Read More

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http://dx.doi.org/10.1039/d0cc02948cDOI Listing

Development of a novel test for the identification of hereditary erythrocyte membrane defects by TGA/Chemometrics.

Analyst 2020 Jul 1;145(13):4452-4456. Epub 2020 Jun 1.

Department of Chemistry -"Sapienza" University of Rome, p.le A. Moro 5, 00185 Rome, Italy.

Systematic screening for congenital erythrocyte disorders is not a common practice, due to a lack in the accuracy of the methods and to the costs of the analyses. As a consequence, the diagnosis is usually made when a severe complication occurs. This study introduces an innovative method to perform the screening of a hereditary disease characterized by erythrocyte membrane defects such as hereditary spherocytosis (HS) and hereditary elliptocytosis (HE). Read More

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http://dx.doi.org/10.1039/d0an00649aDOI Listing

A Novel α-Spectrin Pathogenic Variant in Trans to α-Spectrin LELY Causing Neonatal Jaundice With Hemolytic Anemia From Hereditary Pyropoikilocytosis Coexisting With Gilbert Syndrome.

J Pediatr Hematol Oncol 2020 Apr 13. Epub 2020 Apr 13.

Department of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences, Nagoya.

Hereditary pyropoikilocytosis is a subtype of hereditary elliptocytosis because of biallelic mutations of SPTA1, SPTB, and EPB41. The authors present a proband with neonatal jaundice and hemolytic anemia, with poikilocytosis in the blood film. Targeted next-generation sequencing identified Q267del trans to the α allele in SPTA1. Read More

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http://dx.doi.org/10.1097/MPH.0000000000001796DOI Listing

[Identification of a Novel Mutation of 41 Gene in a Family Affected with Hereditary Elliptocytosis].

Sichuan Da Xue Xue Bao Yi Xue Ban 2020 Jan;51(1):97-101

College of Life Sciences, Sichuan University, Chengdu 610101, China.

Objective: To analyse potential genetic cause of a family affected with hereditary elliptocytosis (HE).

Methods: Peripheral blood samples from this HE family were collected. Targeted capture and high-throughput sequencing of 4 813 genetic disease-associated genes was performed in four members of the family. Read More

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http://dx.doi.org/10.12182/20200160505DOI Listing
January 2020

Applications of imaging flow cytometry in the diagnostic assessment of red cell membrane disorders.

Cytometry B Clin Cytom 2020 May 21;98(3):238-249. Epub 2019 Nov 21.

Department of Hematogenetics, ICMR-National Institute of Immunohematology, KEM Hospital Campus, Mumbai, India.

Background: Red cell membranopathies refers to phenotypically and morphologically heterogeneous disorders. High throughput imaging flow cytometry (IFC) combines the speed, sensitivity, and phenotyping abilities of flow cytometry with the detailed imagery and functional insights of microscopy to produce high content image analysis with quantitative analysis. We have evaluated the applications of IFC to examine both the morphology as well as fluorescence signal intensity in red cell membranopathies. Read More

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http://dx.doi.org/10.1002/cyto.b.21857DOI Listing

Advances in understanding the pathogenesis of red cell membrane disorders.

Br J Haematol 2019 10 31;187(1):13-24. Epub 2019 Jul 31.

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

Hereditary erythrocyte membrane disorders are caused by mutations in genes encoding various transmembrane or cytoskeletal proteins of red blood cells. The main consequences of these genetic alterations are decreased cell deformability and shortened erythrocyte survival. Red blood cell membrane defects encompass a heterogeneous group of haemolytic anaemias caused by either (i) altered membrane structural organisation (hereditary spherocytosis, hereditary elliptocytosis, hereditary pyropoikilocytosis and Southeast Asian ovalocytosis) or (ii) altered membrane transport function (overhydrated hereditary stomatocytosis, dehydrated hereditary stomatocytosis or xerocytosis, familial pseudohyperkalaemia and cryohydrocytosis). Read More

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http://dx.doi.org/10.1111/bjh.16126DOI Listing
October 2019

Co-inheritance of Southeast Asian Ovalocytosis (SAO) and G6PD deficiency associated with acute hemolysis in a Thai patient.

Blood Cells Mol Dis 2019 11 11;79:102347. Epub 2019 Jul 11.

Division of Hematology/Oncology, Department of Pediatrics & Thalassemia Center, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand. Electronic address:

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http://dx.doi.org/10.1016/j.bcmd.2019.102347DOI Listing
November 2019
1 Read

Spectrin-based membrane skeleton supports ciliogenesis.

PLoS Biol 2019 07 12;17(7):e3000369. Epub 2019 Jul 12.

Tsinghua-Peking Center for Life Sciences, Beijing Frontier Research Center for Biological Structure, School of Life Sciences and MOE Key Laboratory for Protein Science, Tsinghua University, Beijing, China.

Cilia are remarkable cellular devices that power cell motility and transduce extracellular signals. To assemble a cilium, a cylindrical array of 9 doublet microtubules push out an extension of the plasma membrane. Membrane tension regulates cilium formation; however, molecular pathways that link mechanical stimuli to ciliogenesis are unclear. Read More

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http://dx.doi.org/10.1371/journal.pbio.3000369DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6655744PMC
July 2019
5 Reads

Newborn hereditary elliptocytosis confirmed by familial genetic testing.

Int J Lab Hematol 2020 02 9;42(1):e20-e22. Epub 2019 Jul 9.

Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.

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http://dx.doi.org/10.1111/ijlh.13079DOI Listing
February 2020
3 Reads

Hereditary spherocytosis is associated with decreased pyruvate kinase activity due to impaired structural integrity of the red blood cell membrane.

Br J Haematol 2019 11 5;187(3):386-395. Epub 2019 Jul 5.

Department of Paediatrics, University of Würzburg, Würzburg, Germany.

Hereditary spherocytosis (HS) is characterised by increased osmotic fragility and enhanced membrane loss of red blood cells (RBC) due to defective membrane protein complexes. In our diagnostic laboratory, we observed that pyruvate kinase (PK) activity in HS was merely slightly elevated with respect to the amount of reticulocytosis. In order to evaluate whether impaired PK activity is a feature of HS, we retrospectively analysed laboratory data sets from 172 unrelated patients with HS, hereditary elliptocytosis (HE), glucose-6-phosphate dehydrogenase (G6PD) or PK deficiency, sickle cell or haemoglobin C disease, or β-thalassaemia minor. Read More

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http://dx.doi.org/10.1111/bjh.16084DOI Listing
November 2019
6 Reads

Hereditary elliptocytosis with variable expression and incomplete penetrance in a Chinese family.

Br J Haematol 2019 09 5;186(5):e159-e162. Epub 2019 Jun 5.

Department of Paediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

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http://dx.doi.org/10.1111/bjh.15999DOI Listing
September 2019
4 Reads

A novel mutation in SPTA1 identified by whole exome sequencing in a Chinese family for hereditary elliptocytosis presenting with hyperbilirubinemia: A case report.

Medicine (Baltimore) 2019 May;98(22):e15800

Department of Hematology, The First Hospital of Lanzhou University, Lanzhou, Gansu, P.R. China.

Rationale: Hereditary elliptocytosis is an inherited disorder characterized by the elliptical red blood cells (RBCs) on the peripheral blood smear and related hemolysis, mainly results from a heterozygous mutation in the genes that encode protein 4.1, α-spectrin, β-spectrin. Mutations of SPTA1 are the most common. Read More

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http://dx.doi.org/10.1097/MD.0000000000015800DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708995PMC
May 2019
7 Reads

Xq22.3q23 microdeletion harboring TMEM164 and AMMECR1 genes: Two case reports confirming a recognizable phenotype with short stature, midface hypoplasia, intellectual delay, and elliptocytosis.

Am J Med Genet A 2019 04 8;179(4):650-654. Epub 2019 Feb 8.

Département de Génétique et Procréation, Centre Hospitalo-Universitaire Grenoble Alpes, Grenoble Cedex, France.

The AMME syndrome defined as the combination of Alport syndrome, intellectual disability, midface hypoplasia, and elliptocytosis (AMME) is known to be a contiguous gene syndrome associated with microdeletions in the region Xq22.3q23. Recently, using exome sequencing, missense pathogenic variants in AMMECR1 have been associated with intellectual disability, midface hypoplasia, and elliptocytosis. Read More

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http://dx.doi.org/10.1002/ajmg.a.61057DOI Listing
April 2019
7 Reads

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

Transfusion 2019 02;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
7 Reads
3.225 Impact Factor

Acquired elliptocytosis in a patient with a myelodysplastic syndrome associated with 20q deletion.

Br J Haematol 2019 04 28;185(2):206. Epub 2018 Dec 28.

Department of Malignant Hematology, University Hospital of Guadalajara, Castilla-La Mancha, Spain.

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http://dx.doi.org/10.1111/bjh.15746DOI Listing
April 2019
3 Reads

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
22 Reads

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

Pediatr Blood Cancer 2019 02 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
28 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
11 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

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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
22 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
7 Reads

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

Cold Spring Harb Mol Case Stud 2018 10 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
17 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
60 Reads

Subtotal and total splenectomy for hereditary pyropoikilocytosis: Benefits and outcomes.

Am J Hematol 2018 10 26;93(10):E340-E342. Epub 2018 Sep 26.

Service d'Hématologie Biologique, CHU Bicêtre, AP-HP, Le Kremlin-Bicêtre, France.

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http://dx.doi.org/10.1002/ajh.25223DOI Listing
October 2018
22 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
23 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
42 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
7 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
18 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
9 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
25 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
18 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
13 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
10 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
51 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
24 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
35 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
30 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
28 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
19 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
12 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
7 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
37 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
49 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
20 Reads