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What is Hemophilia?

Hemophilia is a rare bleeding disorder afflecting about 18,000 people in the United States according to the Centers for Disease Control (CDC). About one in every 8,000 boys is born with hemophilia; girls are rarely affected. A dad can't pass the gene for hemophilia to his sons, though all his daughters will be carriers of the disease gene. Each male child of a female carrier has a 50% chance of having hemophilia.

The human body contains thirteen factors that, with other components of our blood, help stop bleeding and allow a blood vessel to heal after an injury. The last step in the clotting process (called coagulation) is the creation of a "net" that closes the torn blood vessel and stops the bleeding. This part of the process involves clotting factors VIII and IX. People with hemophilia are deficient in one of those factors, and as a result, their blood can't clot properly.

About 80% of all persons with hemophilia have Hemophilia A, also known as factor VIII deficiency. Factor IX deficiency or Hemophilia B, makes up the majority of the remaining 20% of cases. Persons are classified as having mild, moderate, or severe hemophilia, based on the amount of factor present in their blood.

Each case of hemophilia is unique. A person diagnoised with severe hemophilia may only bleed occasionally, whereas a person with a milder form may bleed more often. The reasons for this variability may relate to other clotting factors or to differences in behaviors that present different risks of injury.

Symptoms

• About 30% of diagnoisies are made following circumcision
• 1% - 2% of new borns have intracranial hemorrhaging (bleeding within the skull)
• Bruising may occur on the stomach, chest, buttocks and back when a child is begining to crawl
• A baby may be fussy and may not want to reach for a cup, walk or crawl
• Prolonged nosebleeds
• Excessive bleeding from biting the lips or tongue
• Excessive bleeding following a tooth extraction
• Excessive bleeding following surgery
• Blood in the urine (hematuria)

Diagnosis

Contact your physician if you suspect there's a problem as diagnosing hemophilia requires a set of blood tests:

• Complete blood count (CBC)
• Prothrombin time (PT)
• Activated partial thromboplastin time (PTT)
• Factor VIII level, and
• Factor IX level

Treatment

Hemophilia is a lifelong condition with no cure, but it can be successfully managed with clotting factor replacement therapy - infusions of the deficient clotting factor into the bloodstream. Factor replacement may be given in various settings: Hemophilia Treatment Center (HTC), home, school, etc., depending on the practices you have put into place. You and your healthcare provider will make joint decisions on who will infuse and where. HTC’s provide the training necessary to teach when and how factor should be administered.

For additional information:
Hemophilia Federation of America - www.hemophiliafed.org
The National Hemophilia Foundation - www.hemophilia.org
LA Kelley Communications - www.kelleycom.com
Center for Disease Control (CDC) - www.cdc.gov/ncbddd/hbd/hemophilia.htm