Hemophilia: A Quick Overview

What is Hemophilia?

  • A blood clotting disorder where there is missing or defective levels of clotting proteins known as “factors.” These clotting factors help generate fibrin, which is like a mesh that helps hold a blood clot together. Therefore, when strands of fibrin are not generated properly, a weak and fragile blood clot forms.[1]

What are the different types of Hemophilia?

  • Hemophilia A (Factor VIII Deficiency), Hemophilia B (Factor IX Deficiency), and Hemophilia “C” (Factor XI Deficiency). Other rare factor deficiencies include factors I, II, V, VII, X, XII, and XIII

What are the most common complications treated by physical therapists?

  • Joint Bleeds – usually seen in the knees, elbows or ankles and characterized by rapid loss of ROM, pain or unusual sensations, palpable swelling, and warmth when touched
  • Muscle Bleeds – characterized by muscle achiness, severe pain with stretching or contracting the muscle, tenderness upon palpation, and swelling[2]

How is Hemophilia diagnosed?

  • Hemophilia can only be truly diagnosed through blood testing that screens for factor levels in the blood. Factor level counts or “factor assays” will determine the type of Hemophilia as well as the severity. [3]

How is the severity of Hemophilia classified?

  • Based on the results of the factor assay, hemophilia can be classified as mild, moderate, or severe. If there is a 6%-49% presence of the clotting factor in the blood, it is classified as mild. Moderate hemophilia has a presence of 1%-5% of the normal value for the clotting factor and severe has <1%. [1]

How can Hemophilia be managed?

  • By utilizing a comprehensive care approach, staying physically active with an emphasis on weight bearing activities and playing non-contact sports, and through Prophylactic Factor Replacement Therapy based on the severity of the case.[1]

Additional information on the recommended management of hemophilia can be found at:

http://www.haemophilia.ie/uploaded/Exercise_Guide_med.pdf

References:

  1. Hemophilia A. National Hemophilia Foundation. https://www.hemophilia.org/bleeding-disorders/types-of-bleeding-disorders/hemophilia-a. Published April 2014. Accessed July 20, 2016.
  2. What Are the Signs and Symptoms of Hemophilia? National Heart, Lung, and Blood Institute. http://www.nhlbi.nih.gov/health/health-topics/topics/hemophilia/signs. Accessed July 21, 2016
  3. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/hemophilia/diagnosis.html. Published 2011. Accessed July 21, 2016
  4. Srivastava A, Brewer AK, Mauser-Bunschoten EP, et al. Guidelines for the management of hemophilia. Haemophilia. 2012;19(1). doi:10.1111/j.1365-2516.2012.02909.x.