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Characterization of South-East Asian ovalocytosis using osmotic gradient ektacytometry
Caracterización de la ovalocitosis del sud-este asiático mediante ectacitometría de gradiente osmótico
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"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" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "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" => "<span class="elsevierStyleTextfn">Letter to the Editor</span>" "titulo" => "Characterization of South-East Asian ovalocytosis using osmotic gradient ektacytometry" "tieneTextoCompleto" => true "saludo" => "<span class="elsevierStyleItalic">Dear Editor</span>," "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" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] ] ] 1 => array:4 [ "nombre" => "Inés" "apellidos" => "Hernández-Rodríguez" "email" => array:1 [ 0 => "agnesrh@iconcologia.net" ] "referencia" => array:3 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "identificador" => "aff0010" ] 2 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">*</span>" "identificador" => "cor0005" ] ] ] 2 => array:3 [ "nombre" => "José-Tomás" "apellidos" => "Navarro" "referencia" => array:2 [ 0 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">a</span>" "identificador" => "aff0005" ] 1 => array:2 [ "etiqueta" => "<span class="elsevierStyleSup">b</span>" "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" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(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 (<span class="elsevierStyleItalic">arrow</span>). (b) Osmoscan curve showing a flat curve in SAO patient confirming decreased RBC deformability (<span class="elsevierStyleItalic">green</span>: normal patient; <span class="elsevierStyleItalic">orange</span>: patient with South-East Asian ovalocytosis).</p>" ] ] ] "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">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"><span class="elsevierStyleSup">1</span></a> suggesting survival advantage in this geographic area against <span class="elsevierStyleItalic">Plasmodium falciparum</span>.<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">2</span></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.</p><p id="par0010" class="elsevierStylePara elsevierViewall">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 15.1<span class="elsevierStyleHsp" style=""></span>g/dL (normal range [NR]: 12–16<span class="elsevierStyleHsp" style=""></span>g/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"><span class="elsevierStyleSup">3</span></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 <span class="elsevierStyleItalic">in frame</span> (Ala400_Ala408del) in <span class="elsevierStyleItalic">SLC4A1</span> gene codifying for band 3 protein. With this finding, SAO diagnosis was confirmed.</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0015" class="elsevierStylePara elsevierViewall">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"><span class="elsevierStyleSup">1</span></a> Genetic lesion consists of a mutation in band 3 of <span class="elsevierStyleItalic">SLC4A1</span> 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"><span class="elsevierStyleSup">1,4,5</span></a></p><p id="par0020" class="elsevierStylePara elsevierViewall">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 <span class="elsevierStyleItalic">y</span>-axis and osmolality in the <span class="elsevierStyleItalic">x</span>-axis.</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Ethical considerations</span><p id="par0025" class="elsevierStylePara elsevierViewall">Informed consent was obtained.</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Funding</span><p id="par0030" class="elsevierStylePara elsevierViewall">Funds from <span class="elsevierStyleGrantSponsor" id="gs1">Josep Carreras International Foundation</span>.</p></span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0015">Conflict of interest</span><p id="par0035" class="elsevierStylePara elsevierViewall">The authors declare no conflict of interest.</p></span></span>" "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" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">(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 (<span class="elsevierStyleItalic">arrow</span>). (b) Osmoscan curve showing a flat curve in SAO patient confirming decreased RBC deformability (<span class="elsevierStyleItalic">green</span>: normal patient; <span class="elsevierStyleItalic">orange</span>: patient with South-East Asian ovalocytosis).</p>" ] ] ] "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. 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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" ]
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