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Medical Author:

Melissa Conrad Stöppler, MD

Melissa Conrad Stöppler, MD

Melissa Conrad Stöppler, MD, is a U.S. board-certified Anatomic Pathologist with subspecialty training in the fields of Experimental and Molecular Pathology. Dr. Stöppler's educational background includes a BA with Highest Distinction from the University of Virginia and an MD from the University of North Carolina. She completed residency training in Anatomic Pathology at Georgetown University followed by subspecialty fellowship training in molecular diagnostics and experimental pathology.

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Medical Editor:

Charles Patrick Davis, MD, PhD

Charles Patrick Davis, MD, PhD

Dr. Charles "Pat" Davis, MD, PhD, is a board certified Emergency Medicine doctor who currently practices as a consultant and staff member for hospitals. He has a PhD in Microbiology (UT at Austin), and the MD (Univ. Texas Medical Branch, Galveston). He is a Clinical Professor (retired) in the Division of Emergency Medicine, UT Health Science Center at San Antonio, and has been the Chief of Emergency Medicine at UT Medical Branch and at UTHSCSA with over 250 publications.

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In this Article

• What is hemophilia?
• What causes hemophilia?
• What are the signs and symptoms of hemophilia?
• How is hemophilia diagnosed?
• Is it possible to know if you are a carrier of hemophilia?
• What are treatments for hemophilia?
• What are complications of treatment?
• Inhibitors
• Infections
• Can hemophilia be prevented?
• What is the outlook (prognosis) for hemophilia?
• What are possible future treatments for hemophilia?
• Hemophilia At A Glance
• Find a local Doctor in your town
• Hemophilia Index

Hemophilia is a genetic (inherited) disease and cannot be prevented. Genetic counseling, identification of carriers through molecular genetic testing, and prenatal diagnosis are available to help individuals understand their risk of having a child with hemophilia.

Before factor concentrates were developed, those with hemophilia had a significantly decreased life expectancy. Life expectancy before the 1960s for those with severe hemophilia was limited to 11 years. Currently, the mortality (death) rate for males with hemophilia is twice that of healthy males. As mentioned before, the increase in HIV and hepatitis infections associated with therapy during the 1980s led to a corresponding increase in death rates.

Currently, prompt and adequate treatment can greatly reduce the risks of life-threatening bleeding episodes and the severity of long-term damage to joints, but joint deterioration remains a chronic complication of hemophilia.

Multiple trials and studies are underway to examine the possibility to use gene therapy to replace the defective genes in hemophilia. To date, stable and sustained production of the deficient clotting factors has not been achieved in humans, but this is an area of active investigation that holds great promise for the future.

• Hemophilia is one of a group of inherited bleeding disorders that cause abnormal or exaggerated bleeding and poor blood clotting.
  
  
• Hemophilia A and B are inherited in an X-linked recessive genetic pattern, so males are commonly affected while females are usually carriers of the disease.
  
  
• Hemophilia A is caused by a deficiency of clotting Factor VIII, while hemophilia B (also called Christmas disease) results from a deficiency of Factor IX.
  
  
• Hemophilia varies in its severity among affected individuals.
  
  
• Symptoms include excessive bleeding from any site in the body; long-term damage to joints from repeated bleeding episodes is characteristic.
  
  
• Treatment involves coagulation factor replacement therapy.
  
  
• The formation of inhibitors to the treatment factor concentrates is a significant complication of treatment.
  
  
• Gene therapy treatments are a source of active research and hold promise for the future.

REFERENCES:

Centers for Disease Control. Hemophilia.
<http://www.cdc.gov/ncbddd/hemophilia/facts.html>

eMedicine.com. Hemophilia A and B.
< http://emedicine.medscape.com/article/955590-overview>

eMedicine.com. Hemophilia.
<overview. http://emedicine.medscape.com/article/210104-overview>

eMedicine.com. Hemophilia C.
<http://emedicine.medscape.com/article/955690-overview>