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Hemophilia Hemophilia
by Kimberly Allen, RN Hemophilia is a condition in which your blood is unable to clot properly.  Hemophilia is a genetic condition that affects... Hemophilia

by Kimberly Allen, RN

Hemophilia is a condition in which your blood is unable to clot properly.  Hemophilia is a genetic condition that affects mostly boys though girls can be affected.  You can either inherit the genetic mutation from a parent or it can result from a spontaneous genetic mutation.

The mutated gene responsible for causing both hemophilia A and hemophilia B are contained in our X chromosome.  Because we each receive one of the sex chromosomes from each parent, girls receive an X chromosome from their mother and father while boys receive the X chromosome from their mothers but a Y chromosome from their father.  This means fathers can not pass hemophilia to their son’s, however, it will pass to all his daughters.  Even though girls inherit the gene they are very rarely affected by the disease they are usually just carriers.  So even though hemophilia affects mostly boys it is almost always passed from mother to son.  However, in approximately 30% of the cases hemophilia results from a spontaneous mutation with no family history.hemophilia

The blood in your system to protect itself called the clotting system.  One of the main components of that system is the platelets, which  are the components that go to the injury site to clot and block off the injury.  The first thing the platelets do when they get to the site of the injury is to release a group of proteins called clotting factors.  These clotting factors or proteins then mix with the platelets forming fibers that strengthen the clot holding the platelets together and stopping the bleeding.  There are 12 different proteins or clotting factors activated by the platelets.  These proteins work together to form the fibers that strengthen the clot.  In people with hemophilia there is either not enough or an absence of either clotting factor VII or clotting factor VIIII.  You can only be missing one clotting factor not both.

There are several types of hemophilia, however, the two most common are hemophilia A and hemophilia B.  Hemophilia A which has also been called classic hemophilia is the most common type occurring in approximately 80% of those diagnosed with hemophilia.  Hemophilia A is the result of either not enough or no factor VIII .  The severity of symptoms depends on your level of factor VIII.  People with a factor VIII level between  5% to 25% of normal are considered to have mild hemophilia, if your level is between 1% and 5%it is considered moderate hemophilia and levels less than 1% are considered severe.  Most people diagnosed with hemophilia A have moderate to severe hemophilia.

Hemophilia B, which used to be called “Christmas disease,” results when you have not enough or no factor VIIII.  This type of hemophilia occurs in approximately 20% of hemophilia cases.  This type also almost always occurs in boys and can also result from a spontaneous genetic mutation.  In fact approximately 30% of hemophilia B patients have no family history and are the result of a spontaneous genetic mutation.

The symptoms of hemophilia vary depending on the severity of your deficiency as well as the location of the injury causing the bleeding.  It usually isn’t until your child starts crawling, climbing, bumping and bruising that you notice symptoms of excessive bruising and bleeding.

To date there is no cure for hemophilia however, with the advances in treatment most people with hemophilia are able to lead fairly normal lives.  Today hemophilia is managed by replacing the clotting factor.  This is done through periodic infusions of the clotting factor needed into your blood stream.  As hemophilia is a lifelong condition most people with hemophilia learn how to infuse their own clotting factor at home.  There is also a new medication called recombinant factor VII that has helped many patients that develop inhibitors.

A significant part of managing hemophilia involves preventing problems.  It’s important  for parents to encourage healthy behaviors including regular exercise to strengthen muscles and help reduce bleeding from injury.  Swimming is highly recommended because you can exercise all your muscles without putting the stress on your joints.  It’s also important to manage your weight as excess weight can strain some areas of your body increasing bleeding risks.

Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to HealthAndFitnessTalk.com, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at  mussatti3@gmail.com.

 

 

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