Sunday, May 2, 2010

Hemophilia: Rare Blood Disorder

Approximately 20,000 people in the United States are currently suffering from hemophilia, a rare blood disorder. Hemophilia a rare blood disorder is usually genetic in origin and causes problems with clotting. Because the disease is a recessive sex-linked X chromosomal disorder it is much more likely to occur in males than in females. Though a female can inherit the defective gene from a mother or father or it could be due to a new mutation, cases of hemophilia in women are rarely witnessed.


What is Hemophilia?

Hemophilia is a blood disorder in which the blood plasma coagulation levels are lowered and the person has trouble with wound clotting. When a blood vessel is somehow injured, a temporary scab may form but the missing clotting factors will prevent the formation of fibrin, which is needed to maintain the blood clot. A hemophiliac will not bleed any more or less than a normal person, but can bleed for a much longer duration. In cases of severe hemophilia, a simple cut or scratch could result in blood loss which may last for days or weeks and sometimes it may not heal completely and can pose another set of complications and problems.


Different Types of Hemophilia

There are different types of hemophilia, which include the following:

  • Hemophilia factor VII: also known as Hemophilia A
  • Hemophilia factor IX: also referred to as Hemophilia B
  • Hemophilia A: most common, accounts for 85% of all cases and can be very severe or mild
  • Christmas disease: Hemophilia B, an X-linked recessive form of hemophilia due to deficiency of coagulation factor IX.
  • Autoimmune Hemophilia: non-genetic form



Symptoms of Hemophilia

Symptoms of hemophilia in children, youngsters and adults will vary but can include the following:

  • Profound bruising and bleeding from the gums when baby teeth are coming in
  • Bumps and bruises from frequent falling when learning to walk
  • Bruising and swelling in the joints, soft tissues and muscles
  • Nosebleeds for no apparent reason
  • Blood in the urine
  • Blood in the stool

If any of the above signs and symptoms of hemophilia are noted, the best thing a person can do is to seek prompt medical testing in order to find out the reasons behind unexplained bleeding.


Hemophilia Awareness Day

According to the National Hemophilia Foundation, more than 75% of individuals around the world suffering from hemophilia do not have access to proper medical care and treatment for the disorder is severely lacking. Each year on April 17th, the world observes National Hemophilia Awareness Day, which is designed to raise awareness and money for furthering researcher and helping those that have the disorder live a better life. During the campaign, more than 100 countries plan for public awareness activities which include outreach information, educational materials and volunteer opportunities.


Overview

Currently, there is no known cure for hemophilia, but the topic is something that is currently being aggressively researched. During the mid-1990’s physicians began treating the condition using prophylactic methods which mean utilizing a “preventative” treatment regimen. Due to the incorporation of prophylactic treatment a person diagnosed with hemophilia can look forward to less pain and a long, active and healthy quality of life.

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