Stephen J. Schueler, M.D.

Overview Anatomy

Hemophilia Overview

What is hemophilia?
Hemophilia is an inherited bleeding disorder that primarily affects males. A person with hemophilia is missing a protein, which helps form blood clots. Normal blood coagulation requires the complex interaction of about 20 proteins, called clotting factors. Low levels of the missing factor result in prolonged blood clotting.

What are the symptoms of hemophilia?
Symptoms of hemophilia include prolonged bleeding, bleeding into the joints, joint swelling, joint pains, knee pain, bleeding gums, fatigue, nose bleeding, excessive bruising, blood in the stool, black stool, and a rash that looks like bruises or broken blood vessels.

How does the doctor treat hemophilia?
Treatment for hemophilia depends on the type and usually include the intravenous infusion of the missing clotting factor. Other treatments include fresh frozen plasma, epsilon aminocaproic acid, and desmopressin. Gene therapy remains experimental.

Continue to Hemophilia Anatomy

Last Updated: Sep 4, 2010 References
Authors: Stephen J. Schueler, MD; John H. Beckett, MD; D. Scott Gettings, MD
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PubMed Hemophilia References
  1. Dunn AL, Abshire TC. Recent advances in the management of the child who has hemophilia. Hematol Oncol Clin North Am. 2004 Dec;18(6):1249-76, viii. [15511615]
  2. Ettingshausen CE, Kreuz W. Long-term aspects of hemophilia B treatment: part I-role for prophylaxis. Blood Coagul Fibrinolysis. 2004 Jun;15 Suppl 2:S11-3. [15322452]
  3. Gringeri A. Long-term aspects of hemophilia B treatment: part II. Blood Coagul Fibrinolysis. 2004 Jun;15 Suppl 2:S15-6. [15322453]
  4. Kern M, Blanchette V, Stain AM, Einarson TR, Feldman BM. Clinical and cost implications of target joints in Canadian boys with severe hemophilia A. J Pediatr. 2004 Nov;145(5):628-34. [15520762]
  5. Leissinger CA. Prevention of bleeds in hemophilia patients with inhibitors: emerging data and clinical direction. Am J Hematol. 2004 Oct;77(2):187-93. [15389908]
  6. Plug I, van der Bom JG, Peters M, et al. Thirty years of hemophilia treatment in the Netherlands, 1972-2001. Blood. 2004 Dec 1;104(12):3494-500. [15308570]
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