Hemophilia

21:54 - 4 May , 2021

Disease

What is Hemophilia?

This rare genetic condition affects blood clotting factors by reducing the content of proteins destined for this effect, so the blood does not clot normally, making the bleeding last longer. 

There is no major problem with light cuts, but the real problem is internal bleeding that affects tissues and can cause organic damage and endanger life. For this reason, treatment focuses on providing the clotting factor to level it through replacement therapy. 

Hemophilia, in its various types, is usually hereditary, but in some cases, people without a history develop it when a spontaneous mutation of the genetic material related to this disease occurs. 

There is also the so-called acquired hemophilia, which is a rare type caused by an autoimmune reaction of the body, where the body’s defenses affect blood clotting. The risk factors for developing it are autoimmune diseases, multiple sclerosis, or cancer.

Symptoms

The symptoms vary and depend on the level of deficiency of the clotting factors, so if your levels are slightly reduced, the bleeding will not be problematic except in a serious accident, but if your hemophilia is serious, the bleeding may appear spontaneously, generating the following symptoms:  

  • Exacerbated bleeding with or without reason. They can occur in small wounds and cuts.
  • Recurrent nosebleeds.
  • Hematuria.
  • Blood in the stool.
  • Extensive deep bruising. 
  • Sore and swollen joints. 

Any slight blow to the head can produce an extremely serious cerebral hemorrhage, some of the symptoms are:

  • Long-lasting intense migraine.
  • Somnolescence.
  • Blurred view.
  • Incessant dizziness and vomiting.
  • Muscular weakness.
  • Seizures.

Diagnosis and treatment

When there are hemophilia hereditary factors, it is advisable to carry out studies to identify if the fetus suffers from it, while in children and adults, it is possible to diagnose it through a blood test.

Hemophilia can be diagnosed early in severe cases given the symptoms, but when it comes to minor varieties there are no clear symptoms until adulthood, so many people realize that they are hemophiliacs when they undergo surgery and have excessive bleeding. 

The appropriate treatment for a severe variety is the replacement therapy of the corresponding clotting factor intravenously when there is a hemorrhage or used as prevention on a permanent basis.

Other treatments that can be combined to achieve a better result are: 

  • Hormonal, by supplying desmopressin in mild cases of hemophilia. 
  • Clotting drugs. 
  • Physiotherapy. 

In the ABC Medical Center Internal Medicine Department, we offer you health care services with the highest quality and safety, from the prevention, diagnosis, timely treatment, and monitoring of infectious, respiratory, endocrinological, dermatological, rheumatic, nephrological, gastrointestinal, and hematological pathologies, from both chronic-degenerative diseases and acute conditions, through a comprehensive and multidisciplinary model.

Fuentes:

  • topdoctors.es
  • cdc.gov
  • mayoclinic.org
  • medlinesplus.gov
  • medicalnewstoday.com
  • clevelandclinic.org
  • medigraphic.com
  • Fernández-Guerra CA, Martínez-Menchaca HR, Treviño-Alanís MG, et al. Manifestaciones orales de la hemofilia adquirida tipo A. Reporte de un caso clínico. Rev Sanid Milit Mex. 2018;72(5-6):355-358.
  • Tejeda GM, Castillo GD. Evolución de los métodos de detección de inhibidores en hemofilia. Rev Cubana Hematol Inmunol Hemoter. 2020;36(4):1-7.
  • Acosta-Aragón MA, Álvarez-Mina AR, Velásquez-Paz JC, et al. Hemofilia B o enfermedad de Christmas. Medicina & Laboratorio. 2020;24(4):273-289.
  • Guevara-Arismendy NM. El rol de los laboratorios clínicos en el paciente con hemofilia. Medicina & Laboratorio. 2020;24(4):271-272.

						
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