Characterization of South-East Asian ovalocytosis using osmotic gradient ektacytometry

Canelo-Vilaseca, Marta; Hernández-Rodríguez, Inés; Navarro, José-Tomás

doi:10.1016/j.medcli.2023.07.019

array:23 ["pii" => "S0025775323004694" "issn" => "00257753" "doi" => "10.1016/j.medcli.2023.07.019" "estado" => "S300" "fechaPublicacion" => "2024-01-12" "aid" => "6395" "copyright" => "Elsevier España, S.L.U.. All rights reserved" "copyrightAnyo" => "2023" "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2024;162:43" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "itemSiguiente" => array:19 [ "pii" => "S0025775323004712" "issn" => "00257753" "doi" => "10.1016/j.medcli.2023.07.021" "estado" => "S300" "fechaPublicacion" => "2024-01-12" "aid" => "6397" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2024;162:44-5" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "es" => array:11 [ "idiomaDefecto" => true "cabecera" => "Carta al Editor" "titulo" => "Síndrome de tako-tsubo atípico como presentación de feocromocitoma adrenal" "tienePdf" => "es" "tieneTextoCompleto" => "es" "paginas" => array:1 [ 0 => array:2 [ "paginaInicial" => "44" "paginaFinal" => "45" ] ] "titulosAlternativos" => array:1 [ "en" => array:1 [ "titulo" => "Atypical tako-tsubo syndrome as a presentation of adrenal pheochromocytoma" ] ] "contieneTextoCompleto" => array:1 [ "es" => true ] "contienePdf" => array:1 [ "es" => true ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Figura 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 698 "Ancho" => 1007 "Tamanyo" => 83641 ] ] "descripcion" => array:1 [ "es" => "Lesión quística tabicada en glándula suprarrenal derecha, que se corresponde con feocromocitoma adrenal." ] ] ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Cristóbal Fraga Abelleira, María Cespón Fernández" "autores" => array:2 [ 0 => array:2 [ "nombre" => "Cristóbal" "apellidos" => "Fraga Abelleira" ] 1 => array:2 [ "nombre" => "María" "apellidos" => "Cespón Fernández" ] ] ] ] ] "idiomaDefecto" => "es" "Traduccion" => array:1 [ "en" => array:9 [ "pii" => "S238702062300517X" "doi" => "10.1016/j.medcle.2023.07.015" "estado" => "S300" "subdocumento" => "" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S238702062300517X?idApp=UINPBA00004N" ] ] "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775323004712?idApp=UINPBA00004N" "url" => "/00257753/0000016200000001/v1_202401010505/S0025775323004712/v1_202401010505/es/main.assets" ] "itemAnterior" => array:18 [ "pii" => "S0025775323004657" "issn" => "00257753" "doi" => "10.1016/j.medcli.2023.07.015" "estado" => "S300" "fechaPublicacion" => "2024-01-12" "aid" => "6391" "copyright" => "Elsevier España, S.L.U." "documento" => "simple-article" "crossmark" => 1 "subdocumento" => "cor" "cita" => "Med Clin. 2024;162:42" "abierto" => array:3 [ "ES" => false "ES2" => false "LATM" => false ] "gratuito" => false "lecturas" => array:1 [ "total" => 0 ] "en" => array:10 [ "idiomaDefecto" => true "cabecera" => "Letter to the Editor" "titulo" => "Transient global amnesia following abrupt discontinuation of escitalopram" "tienePdf" => "en" "tieneTextoCompleto" => "en" "paginas" => array:1 [ 0 => array:1 [ "paginaInicial" => "42" ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Amnesia global transitoria tras interrupción brusca de un tratamiento con escitalopram" ] ] "contieneTextoCompleto" => array:1 [ "en" => true ] "contienePdf" => array:1 [ "en" => true ] "autores" => array:1 [ 0 => array:2 [ "autoresLista" => "Francisco José Fernández-Fernández" "autores" => array:1 [ 0 => array:2 [ "nombre" => "Francisco José" "apellidos" => "Fernández-Fernández" ] ] ] ] ] "idiomaDefecto" => "en" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775323004657?idApp=UINPBA00004N" "url" => "/00257753/0000016200000001/v1_202401010505/S0025775323004657/v1_202401010505/en/main.assets" ] "en" => array:15 [ "idiomaDefecto" => true "cabecera" => "Letter to the Editor" "titulo" => "Characterization of South-East Asian ovalocytosis using osmotic gradient ektacytometry" "tieneTextoCompleto" => true "saludo" => "Dear Editor," "paginas" => array:1 [ 0 => array:1 [ "paginaInicial" => "43" ] ] "autores" => array:1 [ 0 => array:4 [ "autoresLista" => "Marta Canelo-Vilaseca, Inés Hernández-Rodríguez, José-Tomás Navarro" "autores" => array:3 [ 0 => array:3 [ "nombre" => "Marta" "apellidos" => "Canelo-Vilaseca" "referencia" => array:1 [ 0 => array:2 [ "etiqueta" => "a" "identificador" => "aff0005" ] ] ] 1 => array:4 [ "nombre" => "Inés" "apellidos" => "Hernández-Rodríguez" "email" => array:1 [ 0 => "agnesrh@iconcologia.net" ] "referencia" => array:3 [ 0 => array:2 [ "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "b" "identificador" => "aff0010" ] 2 => array:2 [ "etiqueta" => "*" "identificador" => "cor0005" ] ] ] 2 => array:3 [ "nombre" => "José-Tomás" "apellidos" => "Navarro" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "b" "identificador" => "aff0010" ] ] ] ] "afiliaciones" => array:2 [ 0 => array:3 [ "entidad" => "Hematology Department, ICO-Hospital Germans Trias i Pujol, Josep Carreras Leukemia Research Institute, Universitat Autònoma de Barcelona, Badalona, Spain" "etiqueta" => "a" "identificador" => "aff0005" ] 1 => array:3 [ "entidad" => "Josep Carreras Leukaemia Research Institute, Campus ICO-Germans Trias i Pujol, Badalona, Spain" "etiqueta" => "b" "identificador" => "aff0010" ] ] "correspondencia" => array:1 [ 0 => array:3 [ "identificador" => "cor0005" "etiqueta" => "⁎" "correspondencia" => "Corresponding author." ] ] ] ] "titulosAlternativos" => array:1 [ "es" => array:1 [ "titulo" => "Caracterización de la ovalocitosis del sud-este asiático mediante ectacitometría de gradiente osmótico" ] ] "resumenGrafico" => array:2 [ "original" => 0 "multimedia" => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 452 "Ancho" => 1340 "Tamanyo" => 101456 ] ] "descripcion" => array:1 [ "en" => "(a) Blood film image (May-Grünwald-Giemsa stain, 1000× objective) of the patient with South-East Asian ovalocytosis showing anisocytosis with poikilocytosis with ovalocytes and stomatocytes; some of them with more than one stoma (arrow). (b) Osmoscan curve showing a flat curve in SAO patient confirming decreased RBC deformability (green: normal patient; orange: patient with South-East Asian ovalocytosis)." ] ] ] "textoCompleto" => "South-East Asian ovalocytosis (SAO) is an inherited autosomic dominant disorder causing a membranopathy of red blood cells (RBC) which is now widespread in South-East Asia with a prevalence around 30%,<a class="elsevierStyleCrossRef" href="#bib0030">1</a> suggesting survival advantage in this geographic area against Plasmodium falciparum.<a class="elsevierStyleCrossRef" href="#bib0035">2</a> Despite genetic test being confirmatory of SAO diagnosis, the combination of morphology examination in peripheral blood and ektacytometry test could be very effective for its diagnosis offering a potential tool to be used in clinical practice.Here-in we present a case of a 24-year-old woman, born in the Philippines, who performed a routine laboratory testing. She was asymptomatic and the physical examination was normal. Macro-ovalocytes were incidentally found on a blood smear examination. Stomatocytes were observed among these ovalocytes, some of them with more than one stoma (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1a</a>). Complete blood test using a hematology analyzer Beckman Coulter DxH 900 (Beckman Coulter, Miami, Florida, USA) showed hemoglobin 15.1g/dL (normal range [NR]: 12–16g/dL), with normal mean corpuscular volume and hemoglobin concentration. No hemolysis signs were observed. Osmotic gradient ektacytometry was performed with new generation ektacytometer LoRRca MaxSis (Mechatronics Instruments®BV, Zwaag, The Netherlands) showing a flat curve reminding hereditary elliptocytosis (HE) profile<a class="elsevierStyleCrossRef" href="#bib0040">3</a> with marked decrease in the maximal RBC deformability (Elmax), decrease in osmolality at the Elmax (Omax) and extreme decrease in area under curve, suggesting the presence of non-deformable red blood cells (<a class="elsevierStyleCrossRef" href="#fig0005">Fig. 1b</a>). Next generation sequency (NGS) revealed a heterozygous 9-amino-acid deletion in frame (Ala400_Ala408del) in SLC4A1 gene codifying for band 3 protein. With this finding, SAO diagnosis was confirmed.<elsevierMultimedia ident="fig0005"></elsevierMultimedia>Despite their oval-shaped and rigid RBC, adult carriers in the heterozygous state have no clinical repercussions. Nonetheless, minimal hemolysis with neonatal hyperbilirubinemia and anemia has been observed during childhood.<a class="elsevierStyleCrossRef" href="#bib0030">1</a> Genetic lesion consists of a mutation in band 3 of SLC4A1 gene causing a misfolding in the transmembrane domain. Band 3 is the dominant glycoprotein of RBC membrane where it carries out anion exchange and confers RBC shape through linkages between the cytoskeleton and the lipid bilayer.<a class="elsevierStyleCrossRefs" href="#bib0030">1,4,5</a>The ektacytometer is a laser diffractometer that measures the deformability potential of RBC over an osmotic gradient. The result of the test is a characteristic graph named Osmoscan, which shows the amount of deformability on the y-axis and osmolality in the x-axis.Ethical considerationsInformed consent was obtained.FundingFunds from Josep Carreras International Foundation.Conflict of interestThe authors declare no conflict of interest." "textoCompletoSecciones" => array:1 [ "secciones" => array:4 [ 0 => array:2 [ "identificador" => "sec0005" "titulo" => "Ethical considerations" ] 1 => array:2 [ "identificador" => "sec0010" "titulo" => "Funding" ] 2 => array:2 [ "identificador" => "sec0015" "titulo" => "Conflict of interest" ] 3 => array:1 [ "titulo" => "References" ] ] ] "pdfFichero" => "main.pdf" "tienePdf" => true "multimedia" => array:1 [ 0 => array:7 [ "identificador" => "fig0005" "etiqueta" => "Fig. 1" "tipo" => "MULTIMEDIAFIGURA" "mostrarFloat" => true "mostrarDisplay" => false "figura" => array:1 [ 0 => array:4 [ "imagen" => "gr1.jpeg" "Alto" => 452 "Ancho" => 1340 "Tamanyo" => 101456 ] ] "descripcion" => array:1 [ "en" => "(a) Blood film image (May-Grünwald-Giemsa stain, 1000× objective) of the patient with South-East Asian ovalocytosis showing anisocytosis with poikilocytosis with ovalocytes and stomatocytes; some of them with more than one stoma (arrow). (b) Osmoscan curve showing a flat curve in SAO patient confirming decreased RBC deformability (green: normal patient; orange: patient with South-East Asian ovalocytosis)." ] ] ] "bibliografia" => array:2 [ "titulo" => "References" "seccion" => array:1 [ 0 => array:2 [ "identificador" => "bibs0015" "bibliografiaReferencia" => array:5 [ 0 => array:3 [ "identificador" => "bib0030" "etiqueta" => "1" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Neonatal anemia associated with Southeast Asian ovalocitosis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:4 [ 0 => "V. Laosombat" 1 => "S. Dissaneevate" 2 => "M. Wongchanchailert" 3 => "B. Satayasevanaa" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1532/IJH97.A20505" "Revista" => array:6 [ "tituloSerie" => "Int J Hematol" "fecha" => "2005" "volumen" => "82" "paginaInicial" => "201" "paginaFinal" => "205" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/16207591" "web" => "Medline" ] ] ] ] ] ] ] ] 1 => array:3 [ "identificador" => "bib0035" "etiqueta" => "2" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "South-East Asian ovalocitosis" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "C. Garnett" 1 => "B.J. Bain" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1002/ajh.23379" "Revista" => array:5 [ "tituloSerie" => "Am J Hematol" "fecha" => "2013" "volumen" => "88" "paginaInicial" => "328" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/23339107" "web" => "Medline" ] ] ] ] ] ] ] ] 2 => array:3 [ "identificador" => "bib0040" "etiqueta" => "3" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Osmotic gradient ektacytometry: a valuable screening test for hereditary spherocytosis and other red blood cell membrane disorders" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "E. Llaudet-Planas" 1 => "J.L. Vives-Corrons" 2 => "V. Rizzuto" 3 => "P. Gómez-Ramírez" 4 => "J. Sevilla" 5 => "M.T. Coll" ] ] ] ] ] "host" => array:1 [ 0 => array:1 [ "Revista" => array:5 [ "tituloSerie" => "Int J Lab Hematol" "fecha" => "2018" "volumen" => "40" "paginaInicial" => "94" "paginaFinal" => "102" ] ] ] ] ] ] 3 => array:3 [ "identificador" => "bib0045" "etiqueta" => "4" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Accurate light microscopic diagnosis of southeast Asian ovalocytosis" "autores" => array:1 [ 0 => array:2 [ "etal" => true "autores" => array:6 [ 0 => "C. Nixon" 1 => "A. Satyagraha" 2 => "G. Baird" 3 => "A. Harahap" 4 => "L. Panggalo" 5 => "L. Ekawati" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1111/ijlh.12900" "Revista" => array:6 [ "tituloSerie" => "Int J Lab Hematol" "fecha" => "2018" "volumen" => "40" "paginaInicial" => "655" "paginaFinal" => "662" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/30006977" "web" => "Medline" ] ] ] ] ] ] ] ] 4 => array:3 [ "identificador" => "bib0050" "etiqueta" => "5" "referencia" => array:1 [ 0 => array:2 [ "contribucion" => array:1 [ 0 => array:2 [ "titulo" => "Red cell membrane disorders: structure meets function" "autores" => array:1 [ 0 => array:2 [ "etal" => false "autores" => array:2 [ 0 => "M. Risinger" 1 => "T.A. Kalfa" ] ] ] ] ] "host" => array:1 [ 0 => array:2 [ "doi" => "10.1182/blood.2019000946" "Revista" => array:6 [ "tituloSerie" => "Blood" "fecha" => "2020" "volumen" => "136" "paginaInicial" => "1250" "paginaFinal" => "1261" "link" => array:1 [ 0 => array:2 [ "url" => "https://www.ncbi.nlm.nih.gov/pubmed/32702754" "web" => "Medline" ] ] ] ] ] ] ] ] ] ] ] ] ] "idiomaDefecto" => "en" "url" => "/00257753/0000016200000001/v1_202401010505/S0025775323004694/v1_202401010505/en/main.assets" "Apartado" => array:4 [ "identificador" => "66430" "tipo" => "SECCION" "es" => array:2 [ "titulo" => "Cartas al Editor" "idiomaDefecto" => true ] "idiomaDefecto" => "es" ] "PDF" => "https://static.elsevier.es/multimedia/00257753/0000016200000001/v1_202401010505/S0025775323004694/v1_202401010505/en/main.pdf?idApp=UINPBA00004N&text.app=https://www.elsevier.es/" "EPUB" => "https://multimedia.elsevier.es/PublicationsMultimediaV1/item/epub/S0025775323004694?idApp=UINPBA00004N"]

ISSN: 0025-7753

Medicina Clínica, fundada en 1943, es la única publicación semanal de contenido clínico que se edita en España y constituye el máximo exponente de la calidad y pujanza de la medicina española. Son características fundamentales de esta publicación el rigor científico y metodológico de sus artículos, la actualidad de los temas y, sobre todo, su sentido práctico, buscando siempre que la información sea de la mayor utilidad en la práctica clínica. Los contenidos de Medicina Clínica abarcan dos frentes: trabajos de investigación original rigurosamente seleccionados atendiendo a su calidad, originalidad e interés, y trabajos orientados a la formación continuada, encomendados por la revista a autores relevantes (Editoriales, Revisiones, Conferencias clínicas y clínico-patológicas, Diagnóstico y Tratamiento). En estos artículos se ponen al día aspectos de destacado interés clínico o conceptual en la medicina actual. Medicina Clínica es un vehículo de información científica de reconocida calidad, como demuestra su inclusión en los más prestigiosos y selectivos índices bibliográficos del mundo.

Ver más Opción Open Access

Indexada en:

Current Contents/Clinical Medicine, Journal Citation Reports, SCI-Expanded, Index Medicus/Medline, Excerpta Medica/EMBASE, IBECS, IME, MEDES, PASCAL, SCOPUS, ScienceDirect