<?xml version="1.0" encoding="ISO-8859-1"?><article xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance">
<front>
<journal-meta>
<journal-id>0001-6002</journal-id>
<journal-title><![CDATA[Acta Médica Costarricense]]></journal-title>
<abbrev-journal-title><![CDATA[Acta méd. costarric]]></abbrev-journal-title>
<issn>0001-6002</issn>
<publisher>
<publisher-name><![CDATA[Colegio de Médicos y Cirujanos de Costa Rica]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S0001-60022020000100038</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Enfermedad por hemoglobina H: primer caso de dobles heterocigotos hemoglobina Constant Spring / Sudeste Asiático en Costa Rica]]></article-title>
<article-title xml:lang="en"><![CDATA[Hemoglobin H disease: first case of double heterozygous hemoglobin Constant Spring / Southeast Asian in Costa Rica]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Calderón-Brenes]]></surname>
<given-names><![CDATA[Melissa]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Porras-Moreno]]></surname>
<given-names><![CDATA[Adriana]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Granados-Alfaro]]></surname>
<given-names><![CDATA[Paola]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Cartín-Sánchez]]></surname>
<given-names><![CDATA[Walter]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Laboratorio de Estudios Especializados e Investigación  ]]></institution>
<addr-line><![CDATA[ ]]></addr-line>
</aff>
<aff id="Af2">
<institution><![CDATA[,Caja Costarricense de Seguro Social, Hospital Nacional de Niños &#8220;Dr. Carlos Sáenz Herrera&#8221; Servicio de Hematología]]></institution>
<addr-line><![CDATA[ San José]]></addr-line>
<country>Costa Rica</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>03</month>
<year>2020</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>03</month>
<year>2020</year>
</pub-date>
<volume>62</volume>
<numero>1</numero>
<fpage>38</fpage>
<lpage>42</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_arttext&amp;pid=S0001-60022020000100038&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_abstract&amp;pid=S0001-60022020000100038&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_pdf&amp;pid=S0001-60022020000100038&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen La enfermedad por hemoglobina H es un cuadro clínico que se presenta en las alfa talasemias, las cuales son enfermedades que cursan con anemia microcítica hipocrómica, debidas principalmente a deleciones en el gen de alfaglobina, lo que disminuye la producción de la cadena de alfa globina y promueve la formación de variantes de hemoglobina. Cuando se detectan variantes de hemoglobina en las alfa talasemias, por lo general, se debe a genotipos homocigotas o dobles heterocigotas para mutaciones y deleciones del gen de alfa globina coheredadas. En este artículo se describe el primer caso en Costa Rica, de dos hermanos con enfermedad por hemoglobina H, que fenotípicamente presentaron las variantes de hemoglobina H y hemoglobina Constant Spring en el análisis electroforético de la hemoglobina, y cuyo análisis molecular del gen de alfa globina detectó tanto la deleción sudeste asiático como la mutación para hemoglobina Constant Spring, siendo diagnosticados como dobles heterocigotos por alfa talasemia (genotipo --SEA/&#945;&#945;CS).]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract Hemoglobin H disease occurs in patients with alpha thalassemia, diseases associated with hypochromic microcytic anemia, mainly due to deletions in the alpha globin gene, which decreases the production of the alpha globin chain and promotes the formation of hemoglobin variants. When hemoglobin variants are detected in alpha thalassemias it is usually due to homozygoys or doublé heterozygous genotypes, for mutations and deletions of the alpha globin gene. This article describes the first case in Costa Rica of two siblings with hemoglobin H disease, who phenotypically presented the hemoglobin H and Constant Spring hemoglobin variants in the electrophoretic analysis of the hemoglobin, and whose molecular DNA analysis of the alpha globin gene detected both, the Southeast Asian deletion and the mutation for Constant Spring Hemoglobin, being diagnosed as compound heterozygous for alpha thalassemia (genotipe --SEA/&#945;&#945;CS).]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Hemoglobina]]></kwd>
<kwd lng="es"><![CDATA[anemia]]></kwd>
<kwd lng="es"><![CDATA[talasemia alfa]]></kwd>
<kwd lng="es"><![CDATA[hemoglobina H]]></kwd>
<kwd lng="en"><![CDATA[Hemoglobin]]></kwd>
<kwd lng="en"><![CDATA[anemia]]></kwd>
<kwd lng="en"><![CDATA[thalassemia alfa]]></kwd>
<kwd lng="en"><![CDATA[hemoglobin H]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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