Publication: Aportación de los parámetros de laboratorio proporcionados por el analizador hematológico Advia 2120 al diagnóstico de hemoglobinopatía
Loading...
Files
Official URL
Full text at PDC
Publication Date
2017-09-18
Authors
Advisors (or tutors)
Editors
Journal Title
Journal ISSN
Volume Title
Publisher
Universidad Complutense de Madrid
Citations
Exportar
Abstract
Las hemoglobinopatías constituyen las alteraciones monogénicas más frecuentes en el mundo. Se producen por mutaciones puntuales, deleciones o inserciones en los genes que codifican las cadenas de globina que pueden determinar una alteración cualitativa en la expresión de dichos genes (en el caso de las hemoglobinopatías estructurales) o una disminución o ausencia de la expresión de las cadenas de globina estructuralmente normales (en el caso de las talasemias). Los flujos migratorios de las últimas décadas desde países subdesarrollados hacia países desarrollados han provocado cambios significativos en la distribución mundial de estas patologías. El problema no consiste únicamente en que su prevalencia haya aumentado de forma muy llamativa, sino que, en países desarrollados, el porcentaje de población portadora de al menos uno de estos defectos se espera que siga aumentando en las próximas décadas. En los países desarrollados, este aumento de prevalencia tan marcado hace que los programas de screening sean cada vez más necesarios. La presente tesis doctoral tiene como objetivo general demostrar la utilidad de la hematimetría como herramienta en el diagnóstico de presunción de las hemoglobinopatías...
Haemoglobinopathies are the most common genetic disorders worldwide and constitute a significant public health problem. They are caused by mutations in the globin genes and/or regulatory elements that may produce defective synthesis (thalassaemias) or change the structure of the gene products [structural haemoglobinopathies or variant haemoglobins (Hb)]. There has been a significant impact of migration flows in their increase of prevalence in first-world countries and haemoglobinopathies have become an emerging public health problem. The health burden of haemoglobinopathies is expected to increase in the upcoming decades, so the number of individuals needing diagnosis and management for these conditions is increasing in both underdeveloped and first-world countries. Therefore, efficient screening programmes are becoming necessary. Clinicians need to be able to accurately identify Hb variant carriers and provide adequate genetic counseling to them in order to prevent the occurrence of homozygous or compound heterozygous offspring as far as possible. The general aim of this thesis work is to broaden the knowledge about the role of the red blood cell (RBC) laboratory parameters provided by the Advia 2120 analyser in the diagnosis of haemoglobinopathies...
Haemoglobinopathies are the most common genetic disorders worldwide and constitute a significant public health problem. They are caused by mutations in the globin genes and/or regulatory elements that may produce defective synthesis (thalassaemias) or change the structure of the gene products [structural haemoglobinopathies or variant haemoglobins (Hb)]. There has been a significant impact of migration flows in their increase of prevalence in first-world countries and haemoglobinopathies have become an emerging public health problem. The health burden of haemoglobinopathies is expected to increase in the upcoming decades, so the number of individuals needing diagnosis and management for these conditions is increasing in both underdeveloped and first-world countries. Therefore, efficient screening programmes are becoming necessary. Clinicians need to be able to accurately identify Hb variant carriers and provide adequate genetic counseling to them in order to prevent the occurrence of homozygous or compound heterozygous offspring as far as possible. The general aim of this thesis work is to broaden the knowledge about the role of the red blood cell (RBC) laboratory parameters provided by the Advia 2120 analyser in the diagnosis of haemoglobinopathies...
Description
Tesis inédita de la Universidad Complutense de Madrid, Facultad de Medicina, Departamento de Medicina Interna, leída el 28/06/2016. Tesis formato europeo (compendio de artículos)