Hemophilia. Methods of diagnosis and treatment

Authors

DOI:

https://doi.org/10.59471/ijhsc202470

Keywords:

Hemophilia, Hereditary, Blood coagulation factors, Genetics

Abstract

Hemophilia is an X-linked recessive inherited disorder. The main clinical manifestation is hemorrhage, the extent of which depends on the level of coagulation factor VIII or IX in the plasma, generally secondary to deep trauma, such as joints, muscles and the central nervous system. Objective: To present a clear and practical bibliographic review of hemophilia, addressing general aspects of pathophysiology, diagnosis and management, as well as new therapeutic alternatives under development for its treatment. Methods: The databases PubMed, Scopus, ScienceDirect and Scielo were searched using key words in Spanish and English. Twenty articles were selected as a basis for the construction of this review, but 5 were not used because their publication date was more than 5 years old. Results: A literature review was developed that included basic and practical concepts of hemophilia treatment methods and approaches. Conclusions: Hemophilia is a life-threatening disease that affects patients' quality of life, so developing an appropriate diagnosis and treatment is a challenge.

References

A.Páramo, J. (2021). Tratamiento de la hemofilia: de la terapia sustitutiva a la terapia génica. ScienceDirect, 583-587.

Chelle, P., A Montmartin, M Piot, L Ardillon, B Wibaut, B Frotscher, & M Cournil. (2018). Prediction of individual factor VIII or IX level for the correction of thrombin generation in haemophilic patients. Scopus. Obtenido de https://pubmed.ncbi.nlm.nih.gov/29957846/

Dávoli, G., Mauro, E., Gastaldo, L., Honnorat, S., López, E., Morell, M., . . . Rescia, D. (2019). Hemofilia. Sociedad Argentina de Hematología, 169-175. Obtenido de http://sah.org.ar/docs/2017/003-Hemofilia.pdf

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Medina, L. F., & Vargas Ruiz, Á. G. (2018). Hemofilia. Temas de actualidad, 1-3. Obtenido de https://www.medigraphic.com/pdfs/imss/im-2013/im136i.pdf

Mortensen, G. L., Strand, A. M., & Almén , L. (2018). Adherence to prophylactic haemophilic treatment in young patients transitioning to adult care: A qualitative review. Scopus. Obtenido de https://pubmed.ncbi.nlm.nih.gov/30485633/

O’Hara, J., Noone, D., Jain, M., Pedra, G., Landis, S., Hawes, C., & Burke, T. (2021). Clinical attributes and treatment characteristics are associated with work productivity and activity impairment in people with severe haemophilia A. Scopus. Obtenido de https://onlinelibrary.wiley.com/doi/10.1111/hae.14302

O’Hara, J., Noone, D., Jain, M., Pedra, G., Landis, S., Hawes, C., & Burke, T. (2021). Clinical attributes and treatment characteristics are associated with work productivity and activity impairment in people with severe haemophilia A. Scopus. Obtenido de https://onlinelibrary.wiley.com/doi/full/10.1111/hae.14302

O'Mahony, B., G. Dolan,, D. Nugent, & C. Goodman. (2018). Patient-centred value framework for haemophilia. Scopus. Obtenido de https://onlinelibrary.wiley.com/doi/10.1111/hae.13456

Rojas, T. M. (2019). CUIDADOS DE ENFERMERÍA EN HEMOFILIAEN PACIENTES PEDIÁTRICOS, HOSPITAL DE NIÑOS DR. MARIO ORTIZ SUAREZ, ENERO -JUNIO 2019. UNIVERSIDAD AUTÓNOMA “JUAN MISAEL SARACHO”, 19-30. Obtenido de https://repo.uajms.edu.bo/index.php/tesisdegrado/article/view/92

Sánchez, L. M., Álvarez Hernández, L. F., Ruiz Mejía, C., Jaramillo Jaramillo, L. I., Builes Restrepo, L. N., & Villegas Álzate, J. D. (2018). Hemofilia: abordaje diagnóstico y terapéutico. Revista Facultad Nacional de Salud Pública, 86-87. Obtenido de http://www.scielo.org.co/pdf/rfnsp/v36n2/0120-386X-rfnsp-36-02-00085.pdf

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Published

2024-07-21

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Original

How to Cite

1.
Tirado Álvarez AS, Jerez Mesías JS, Hernández Bandera N de las M, Ramos Argilagos ME. Hemophilia. Methods of diagnosis and treatment. Interamerican Journal of Health Sciences [Internet]. 2024 Jul. 21 [cited 2024 Nov. 23];4:70. Available from: https://ijhsc.uai.edu.ar/index.php/ijhsc/article/view/70