844 results match your criteria Elliptocytosis Hereditary

Clinical and molecular genetic analysis of a Chinese family with hereditary elliptocytosis caused by a novel mutation in the EPB41 gene.

J Clin Lab Anal 2021 Jun 4;35(6):e23781. Epub 2021 May 4.

Department of Laboratory Medicine, the First Affiliated Hospital of Shantou University Medical College, Shantou, P.R. China.

Background: Hereditary elliptocytosis (HE) is a heterogeneous red blood cell membrane disorder characterized by the presence of elliptocytes on a peripheral blood smear. Clinical manifestations of HE vary widely from asymptomatic carriers to patients with severe transfusion-dependent anemia. Most patients are asymptomatic or have mild anemia, which hinders diagnosis. Read More

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Systematic analysis of frequency dependent differential photoacoustic cross-section data for source size estimation.

J Opt Soc Am A Opt Image Sci Vis 2020 Dec;37(12):1895-1904

A frequency dependent differential photoacoustic cross-section (DPACS) over a large frequency band (100-1000 MHz) was computed, and subsequently, morphological parameters of a photoacoustic (PA) source were quantified. The Green's function approach was utilized for calculating the DPACS for spheroidal droplets with varying aspect ratios, Chebyshev particles with different waviness and deformation parameters, and normal red blood cells and cells affected by hereditary disorders (e.g. Read More

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December 2020

Acute lymphoblastic leukaemia in a child with hereditary elliptocytosis.

Int J Lab Hematol 2021 02 24;43(1):5-6. Epub 2020 Nov 24.

Clinical Laboratory, Qingdao Women and Children's Hospital, Qingdao, China.

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February 2021

Homozygous Southeast Asian Ovalocytosis in five live-born neonates.

Haematologica 2021 06 1;106(6):1758-1761. Epub 2021 Jun 1.

Cluster of Regenerative Medicine, Advanced Medical and Dental Institute (AMDI), Universiti Sains Malaysia, Penang.

Not available. Read More

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Genome-Wide Association for HbA1c in Malay Identified Deletion on SLC4A1 that Influences HbA1c Independent of Glycemia.

J Clin Endocrinol Metab 2020 12;105(12)

Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.

Context: Glycated hemoglobin A1c (HbA1c) level is used to screen and diagnose diabetes. Genetic determinants of HbA1c can vary across populations and many of the genetic variants influencing HbA1c level were specific to populations.

Objective: To discover genetic variants associated with HbA1c level in nondiabetic Malay individuals. Read More

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December 2020

Southeast Asian Ovalocytosis and Hemoglobinopathies in Newborns: Prevalence, Molecular, and Hematologic Analyses.

J Pediatr Hematol Oncol 2021 04;43(3):e341-e345

Centre for Research and Development of Medical Diagnostic Laboratories, Faculty of Associated Medical Sciences.

Objectives: Southeast Asian ovalocytosis (SAO) is an inherited red blood cell (RBC) membrane disorder, whereas hemoglobinopathies are inherited globin gene disorders. In an area where both diseases are prevalent, the interaction between them resulting in variable hematologic parameters can be encountered. However, little is known about the genetic interaction of SAO and thalassemia. Read More

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A novel p.Trp704* mutation in a Korean patient with hereditary elliptocytosis: a case report.

Hematology 2020 Dec;25(1):321-326

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

Hereditary elliptocytosis (HE) is inherited in an autosomal dominant fashion, and the majority of HE-associated defects occur due to qualitative and quantitative defects in the RBC membrane skeleton proteins α-spectrin, β-spectrin, or protein 4.1R. The complex gene encodes a diverse family of protein 4. Read More

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December 2020

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

Biomolecules 2020 07 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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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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Dizygotic twins with prolonged jaundice and microcytic, hypochromic, hemolytic anemia with pyropoikilocytosis.

Blood Cells Mol Dis 2020 11 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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November 2020

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

J Cell Sci 2020 08 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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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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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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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 2021 03;43(2):e250-e254

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 αLELY allele in SPTA1. Read More

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[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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January 2020

Laboratory Approach to Hemolytic Anemia.

Indian J Pediatr 2020 01 10;87(1):66-74. Epub 2019 Dec 10.

Department of Hematology, Post Graduate Institute of Medical Education and Research, Chandigarh, 160012, India.

Hemolytic anemias are a group of disorders with varied clinical and molecular heterogeneity. They are characterized by decreased levels of circulating erythrocytes in blood. The pathognomic finding is a reduced red cell life span with severe anemia or, compensated hemolysis accompanied by reticulocytosis. Read More

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January 2020

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

Cytometry B Clin Cytom 2020 05 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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Coinheritance of hereditary ellyptocytosis, pyruvate kinase, and glucose-6-phosphate dehidrogenase mutations. A rare anemia diagnostic paradigm.

Int J Lab Hematol 2020 04 20;42(2):e55-e58. Epub 2019 Sep 20.

Red Cell Pathology and Hematopoietic Disorders Unit (Rare Anaemias Expert Centre), Institute for Leukaemia Research Josep Carreras (IJC), Badalona (Barcelona), Spain.

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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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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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November 2019

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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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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February 2020

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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November 2019

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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September 2019

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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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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