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- List of Diseases -

 

 

Hemophilia A and Hemophilia B

 

 

Hemophilia is an inherited bleeding disorder caused by the absence or decreased levels of certain blood clotting factors.  In response to an injury such as a cut, the body releases platelets to form a clot at the injury site to prevent further bleeding.  Various factors are produced by the platelets and these interact to form a clot.  Absence or decreased levels of certain clotting factors causes increased bleeding time and results in Hemophilia.  There are two types of Hemophilia and these are classified according to the deficient clotting factor.  The more common form, Hemophilia A, is caused by a Factor VIII deficiency, and the less common form, Hemophilia B, is caused by Factor IX deficiency.

 

Hemophilia is inherited in an X-linked recessive manner and generally affects males.  Hemophilia A occurs in 1 out of 5,000-10,000 males worldwide.  Hemophilia B is five times less common than Hemophilia A.  Hemophilia is characterized by prolonged bleeding time due to the blood’s reduced ability to clot.  Skin bruising and painful swelling are also common.  Bleeding often occurs at specific sites and carries risks for other complications.  Bleeding in the joints may cause arthritis.  Muscle bleeding causes swelling and may damage underlying nerves and blood vessels.  Bleeding in the head is extremely dangerous; symptoms of this include irritability, drowsiness, headaches, vomiting, nausea and confusion.  Neck and throat swelling are also dangerous for it may obstruct breathing.  In all of these cases, early detection and treatment is essential.  Although Hemophilia is a life long condition and there is currently no cure available, further injury can be avoided if bleeding is detected early.  Blood transfusion is a common treatment for patients.  Antifibrinolytic agents may also be prescribed along with careful physiotherapy to help strengthen muscles. 

 

Approximately 2/3 of all cases of Hemophilia are inherited, the rest are due to a sporadic genetic mutation.  A couple with a familial history of hemophilia should consult with a genetic counselor.  They should also be aware and should consider a new genetic test called Preimplantation Genetic Diagnosis (PGD).  PGD tests for genetic defects and determines the gender of an embryo prior to implantation.  Through this mechanism, the chance of having an affected child can be significantly reduced.  A genetic counselor can advise a couple on whether PGD will be of benefit to them.  PGD can also test for other genetic disorders and is continually being improved to encompass other hereditary diseases.

 

 

Click here for more information on PGD

 

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Last modified: 06/09/04