Hemophilia: Molecular diagnosis and alternatives of treatment

Sandra Milena Bermeo, Claudia Tamar Silva, Dora Janeth Fonseca, Carlos Martin Restrepo

Resultado de la investigación: Contribución a RevistaRevisión Literaria

1 Cita (Scopus)

Resumen

The haemophilia is a recessive disease tied to the X chromosome that generally men suffer. The genetic preimplantation diagnosis (GPD), the prenatal diagnosis and the molecular diagnosis of the mutations that cause haemophilia, are realized in isolated investigations (researches) in order to do primary prevention, provide advise to the carriers of the disease and their families, which has allowed to bring to the world children free of this disease and also to improve the quality of life of the affected ones. The hopeful procedures in gene therapy (GT) have shown great effectiveness. The intention is to achieve the normal production of the protein which is absent or it is altered in the affected ones, but at the moment the tests carried out in human beings are stopped. Here are other alternate therapies that although are in phase of investigation, would allow to obtain a production of protein to long term and which have been developed thanks to the understanding of the molecular nature of the coagulation factors. © 2007 Corporación Editora Médica del Valle.
Idioma originalEnglish (US)
Páginas (desde-hasta)308-315
Número de páginas8
PublicaciónColombia Medica
EstadoPublished - jul 1 2007

Huella dactilar

Hemophilia A
Preimplantation Diagnosis
Blood Coagulation Factors
X Chromosome
Primary Prevention
Prenatal Diagnosis
Genetic Therapy
Proteins
Therapeutics
Quality of Life
Mutation
Research

Citar esto

Bermeo, S. M., Silva, C. T., Fonseca, D. J., & Restrepo, C. M. (2007). Hemophilia: Molecular diagnosis and alternatives of treatment. Colombia Medica, 308-315.
Bermeo, Sandra Milena ; Silva, Claudia Tamar ; Fonseca, Dora Janeth ; Restrepo, Carlos Martin. / Hemophilia: Molecular diagnosis and alternatives of treatment. En: Colombia Medica. 2007 ; pp. 308-315.
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Bermeo, SM, Silva, CT, Fonseca, DJ & Restrepo, CM 2007, 'Hemophilia: Molecular diagnosis and alternatives of treatment', Colombia Medica, pp. 308-315.

Hemophilia: Molecular diagnosis and alternatives of treatment. / Bermeo, Sandra Milena; Silva, Claudia Tamar; Fonseca, Dora Janeth; Restrepo, Carlos Martin.

En: Colombia Medica, 01.07.2007, p. 308-315.

Resultado de la investigación: Contribución a RevistaRevisión Literaria

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T1 - Hemophilia: Molecular diagnosis and alternatives of treatment

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N2 - The haemophilia is a recessive disease tied to the X chromosome that generally men suffer. The genetic preimplantation diagnosis (GPD), the prenatal diagnosis and the molecular diagnosis of the mutations that cause haemophilia, are realized in isolated investigations (researches) in order to do primary prevention, provide advise to the carriers of the disease and their families, which has allowed to bring to the world children free of this disease and also to improve the quality of life of the affected ones. The hopeful procedures in gene therapy (GT) have shown great effectiveness. The intention is to achieve the normal production of the protein which is absent or it is altered in the affected ones, but at the moment the tests carried out in human beings are stopped. Here are other alternate therapies that although are in phase of investigation, would allow to obtain a production of protein to long term and which have been developed thanks to the understanding of the molecular nature of the coagulation factors. © 2007 Corporación Editora Médica del Valle.

AB - The haemophilia is a recessive disease tied to the X chromosome that generally men suffer. The genetic preimplantation diagnosis (GPD), the prenatal diagnosis and the molecular diagnosis of the mutations that cause haemophilia, are realized in isolated investigations (researches) in order to do primary prevention, provide advise to the carriers of the disease and their families, which has allowed to bring to the world children free of this disease and also to improve the quality of life of the affected ones. The hopeful procedures in gene therapy (GT) have shown great effectiveness. The intention is to achieve the normal production of the protein which is absent or it is altered in the affected ones, but at the moment the tests carried out in human beings are stopped. Here are other alternate therapies that although are in phase of investigation, would allow to obtain a production of protein to long term and which have been developed thanks to the understanding of the molecular nature of the coagulation factors. © 2007 Corporación Editora Médica del Valle.

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JF - Colombia Medica

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