<?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>S0001-60022022000400017</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Caracterización clínica y epidemiológica de población pediátrica costarricense con alfa-talasemia]]></article-title>
<article-title xml:lang="en"><![CDATA[Clinical and epidemiologic characterization of Costa Rican pediatric population with alpha-thalassemia]]></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[Cubillo-López]]></surname>
<given-names><![CDATA[Ivonne María]]></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 contrib-type="author">
<name>
<surname><![CDATA[Valverde-Muñoz]]></surname>
<given-names><![CDATA[Kathia]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Caja Costarricense del Seguro Social Hospital Nacional de Niños Laboratorio de Investigación]]></institution>
<addr-line><![CDATA[San José ]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af2">
<institution><![CDATA[,Caja Costarricense del Seguro Social Hospital de Upala Servicio de Pediatría]]></institution>
<addr-line><![CDATA[Guanacaste ]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af3">
<institution><![CDATA[,Caja Costarricense del Seguro Social Hospital Nacional de Niños Laboratorio de Investigación]]></institution>
<addr-line><![CDATA[San José ]]></addr-line>
<country>Costa Rica</country>
</aff>
<aff id="Af4">
<institution><![CDATA[,Caja Costarricense del Seguro Social Hospital Nacional de Niños 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>12</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>12</month>
<year>2022</year>
</pub-date>
<volume>64</volume>
<numero>4</numero>
<fpage>17</fpage>
<lpage>27</lpage>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_arttext&amp;pid=S0001-60022022000400017&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_abstract&amp;pid=S0001-60022022000400017&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://www.scielo.sa.cr/scielo.php?script=sci_pdf&amp;pid=S0001-60022022000400017&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[Resumen  Objetivo:  Describir las características clínicas y epidemiológicas de pacientes con alfatalasemia atendidos en un hospital nacional pediátrico.  Métodos:  Estudio observacional descriptivo de corte transversal. Se estudia a 60 pacientes del Servicio de Hematología del Hospital Nacional de Niños &#8220;Dr. Carlos Sáenz Herrera&#8221;, Caja Costarricense de Seguro Social, del 1° de enero de 2018 al 31 de enero de 2019, cuyas edades están comprendidas entre los 0 meses y 12 años 11 meses de edad, con índices hematimétricos sugestivos de alfa-talasemia y con electroforesis de hemoglobina patrón AA con HbA2 normal o disminuida. Análisis molecular: identificación de 21 mutaciones y deleciones más frecuentes para el gen de alfa-globina: 3.7, 4.2, 20.5, MED, FIL, SEA, THAI, anti-3.7 triplicación, HbConstant Spring, HbQuonSze, Hb Adana, HbKoya Dora, HbIcara, HbPakse, a2 poli A-1/2, a2-cd142, a1-cd14, a2-init-cd, a2-cd19, a2-IVS1, a2-cd59. Se utiliza el método de amplificación por reacción en cadena de la polimerasa e hibridación inversa del ácido desoxirribonucleico genómico en leucocitos de sangre periférica de los pacientes.  Resultados:  Se confirma la enfermedad en 44/60 casos (73%). La edad media al diagnóstico para estos casos es de 4.9 años (desviación estándar 3.0), predominó el sexo femenino en 52.3% de los casos. La provincia de Guanacaste reportó la mayor prevalencia de la enfermedad. El defecto genético delecional -3.7 Kb es el genotipo más frecuente. El fenotipo en el 77.2% de los casos indicó portador silente de alfa-talasemia. El 84.1% de los sujetos positivos para alfa-talasemia correlacionó con hipocromía, microcitosis y eritrocitosis en el hemograma inicial. El 9% de los casos evidenció la coexistencia de alfa-talasemia y anemia por deficiencia de hierro.  Conclusiones:  Este estudio demuestra que los hallazgos de índices eritrocitarios que indiquen hipocromía y microcitosis con aumento del cómputo de eritrocitos, índices férricos normales y una electroforesis de hemoglobina con patrón normal (AA) sugieren ser estudiados molecularmente por alfa-talasemia. La electroforesis de hemoglobina reportada como normal no excluye la condición de alfa-talasemia y debe realizarse el estudio molecular.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[Abstract  Objective:  Describe the clinical and epidemiological characteristics of patients with alpha thalassemia in the Hematology Service of a national pediatric hospital.  Methods:  Cross-sectional descriptive observational study. 60 patients from the Hematology Service of the National Children&#8217;s Hospital &#8220;Dr. Carlos Sáenz Herrera&#8221;, Costa Rican Social Security Fund, from January 1, 2018 to January 31, 2019, with hematometric indices suggestive of alphaThalassemia, with AA standard hemoglobin electrophoresis with normal or decreased HbA2 with ages between 0 months and 12 years 11 months old. Molecular analysis: Identification of 21 mutations and deletions that includes the detection of the most frequent deletions/mutations for the alpha globin gene: 3.7, 4.2, 20.5, MED, FIL, SEA, THAI, anti-3.7 tripling, HbConstant Spring, HbQuonSze, Hb Adana, HbKoya Dora, HbIcara, HbPakse, a2 poli A-1/2, a2-cd142, a1-cd14, a2-init-cd, a2-cd19, a2-IVS1, a2-cd59. The reverse hybridization PCR amplification method of genomic DNA in peripheral blood leukocytes of patients isused.  Results:  Of the 60 cases studied, in 44/60 (73%) cases the disease is confirmed. The average age at diagnosis for these cases is 4.9 years (SD 3.0), the female sex predominated in 52.3% of the cases. Guanacaste reported the highest prevalence of the disease. The deletional genetic defect -3.7 Kb was the most frequent genotype and the phenotype in 77.2% of the cases was he silent carrier of alpha thalassemia. In 84.1% of subjects positive for alpha thalassemia, it correlated with hypochromia, microcytosis, and erythrocytosis in the initial blood count. 9% of the cases showed the coexistence of alpha thalassemia and iron deficiency anemia.  Conclusions:  This study demonstrates that the findings of erythrocyte indices that indicate hypochromia and microcytosis with increased erythrocyte count; normal iron indices and a normal hemoglobin (AA) electrophoresis pattern suggest that they should be studied molecularly for alpha thalassemia. Hemoglobin electrophoresis reported as normal does not exclude the condition of alpha thalassemia and the molecular study must be carried out.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[Anemia]]></kwd>
<kwd lng="es"><![CDATA[talasemia alfa]]></kwd>
<kwd lng="es"><![CDATA[hemoglobina H]]></kwd>
<kwd lng="es"><![CDATA[hemoglobina A]]></kwd>
<kwd lng="en"><![CDATA[Anemia]]></kwd>
<kwd lng="en"><![CDATA[alpha thalassemia]]></kwd>
<kwd lng="en"><![CDATA[hemoglobin H]]></kwd>
<kwd lng="en"><![CDATA[hemoglobin A]]></kwd>
</kwd-group>
</article-meta>
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