<?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>1561-3194</journal-id>
<journal-title><![CDATA[Revista de Ciencias Médicas de Pinar del Río]]></journal-title>
<abbrev-journal-title><![CDATA[Rev Ciencias Médicas]]></abbrev-journal-title>
<issn>1561-3194</issn>
<publisher>
<publisher-name><![CDATA[Editorial Ciencias Médicas]]></publisher-name>
</publisher>
</journal-meta>
<article-meta>
<article-id>S1561-31942022000400016</article-id>
<title-group>
<article-title xml:lang="es"><![CDATA[Diagnóstico molecular indirecto en estudio de familias con hemofilia en Pinar del Río]]></article-title>
<article-title xml:lang="en"><![CDATA[Indirect molecular diagnosis in a study of families with hemophilia in Pinar del Río]]></article-title>
</title-group>
<contrib-group>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Carreño-Garrido]]></surname>
<given-names><![CDATA[Ana Ivis]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Travieso-Tellez]]></surname>
<given-names><![CDATA[Anitery]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
<contrib contrib-type="author">
<name>
<surname><![CDATA[Valdés-Sojo]]></surname>
<given-names><![CDATA[César]]></given-names>
</name>
<xref ref-type="aff" rid="Aff"/>
</contrib>
</contrib-group>
<aff id="Af1">
<institution><![CDATA[,Universidad de Ciencias Médicas de Pinar del Río. Hospital Pediátrico Provincial Docente Pepe Portilla ]]></institution>
<addr-line><![CDATA[Pinar del Río ]]></addr-line>
<country>Cuba</country>
</aff>
<pub-date pub-type="pub">
<day>00</day>
<month>08</month>
<year>2022</year>
</pub-date>
<pub-date pub-type="epub">
<day>00</day>
<month>08</month>
<year>2022</year>
</pub-date>
<volume>26</volume>
<numero>4</numero>
<copyright-statement/>
<copyright-year/>
<self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_arttext&amp;pid=S1561-31942022000400016&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_abstract&amp;pid=S1561-31942022000400016&amp;lng=en&amp;nrm=iso"></self-uri><self-uri xlink:href="http://scielo.sld.cu/scielo.php?script=sci_pdf&amp;pid=S1561-31942022000400016&amp;lng=en&amp;nrm=iso"></self-uri><abstract abstract-type="short" xml:lang="es"><p><![CDATA[RESUMEN  Introducción:  la hemofilia es una enfermedad hereditaria que se transmite con un patrón recesivo ligado al cromosoma X. Su expresión clínica está dada por el déficit o la ausencia de actividad de factores de la coagulación (factor VIII para la Hemofilia A y factor IX para la Hemofilia B) Se caracteriza por una marcada heterogeneidad genética, lo que hace complejo su diagnóstico por métodos moleculares directos. En Cuba, se dispone de estudios indirectos por técnica de ligamiento para la caracterización de familias que conviven con hemofilia.  Objetivo: describir los resultados de estudios moleculares indirectos en familias con antecedentes de hemofilia en Pinar del Río.  Métodos: se realizó una investigación observacional, descriptiva y transversal en el universo de nueve familias que agrupan 10 pacientes en edad pediátrica con diagnóstico de hemofilia en Pinar del Río. La muestra se conformó con cinco familias, cuatro con hemofilia A y una con hemofilia B, a las que se realizó estudio molecular indirecto para diagnóstico de portadoras y diagnóstico prenatal.  Resultados: las cinco familias resultaron informativas para los marcadores disponibles. Se identificaron nueve mujeres portadoras y se realizó diagnóstico prenatal de cuatro fetos, de ellos dos enfermos, uno sano y el otro pendiente de resultado. El marcador St14 resultó el más informativo para hemofilia A.  Conclusiones: la posibilidad de estudio molecular indirecto contribuye al diagnóstico, asesoramiento y manejo del riesgo de recurrencia de la hemofilia en cada genealogía de manera particular y se presenta como alternativa útil, aunque elemental, para la caracterización genotípica de las familias afectadas.]]></p></abstract>
<abstract abstract-type="short" xml:lang="en"><p><![CDATA[ABSTRACT  Introduction:  hemophilia is a hereditary disease transmitted with an X-linked recessive pattern. Its clinical expression is given by the deficit or absence of coagulation factor activity (factor VIII for Hemophilia A and factor IX for Hemophilia B). It is characterized by a marked genetic heterogeneity, which makes its diagnosis by direct molecular methods complex. In Cuba, indirect studies by linkage technique are available for the characterization of families living with hemophilia.  Objective:  to describe the results of indirect molecular studies in families with a history of hemophilia in Pinar del Río.  Methods:  an observational, descriptive and transversal research was carried out in the universe of nine families grouping 10 pediatric patients with a diagnosis of hemophilia in Pinar del Río. The sample consisted of five families, four with hemophilia A and one with hemophilia B, which underwent an indirect molecular study for the diagnosis of carriers and prenatal diagnosis.  Results:  the five families were informative for the available markers. Nine carrier women were identified and prenatal diagnosis was performed in four fetuses, two of which were diseased, one healthy and the other pending results. The St14 marker proved to be the most informative for hemophilia A.  Conclusions:  the possibility of indirect molecular study contributes to the diagnosis, counseling and management of the risk of recurrence of hemophilia in each genealogy in a particular way and is presented as a useful, although elementary, alternative for the genotypic characterization of affected families.]]></p></abstract>
<kwd-group>
<kwd lng="es"><![CDATA[HEMOFILIA]]></kwd>
<kwd lng="es"><![CDATA[DIAGNÓSTICO MOLECULAR]]></kwd>
<kwd lng="es"><![CDATA[MARCADORES POLIMÓRFICOS]]></kwd>
<kwd lng="en"><![CDATA[HEMOPHILIA]]></kwd>
<kwd lng="en"><![CDATA[MOLECULAR DIAGNOSTIC]]></kwd>
<kwd lng="en"><![CDATA[CRYSTALLIZATION]]></kwd>
</kwd-group>
</article-meta>
</front><back>
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