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Saturday, September 10, 2011

A Family Doctor's Tale - HEMOPHILIA

DOC I HAVE HEMOPHILIA

Hemophilia is an inherited disorder of bleeding associated with deficiency of Factor VIII (a clotting factor) in the blood.

The cause of Hemophilia is:
It is an inherited X-linked recessive disorder.

Women are carriers .
50 per cent of the sons of carriers will get the disease and 50 per cent of the daughters will be carriers.

This condition is present in the Royal family of England.

It is also associated with Christmas disease which is a deficiency of Factor IX and von Willebrand disease (deficiciency of Factor VIII and platelet abnormalities leading to prologed skin bleeding)

It is a lifelong disease and there is no cure for it.

In Hemophilia patients, the deficiency of a clotting factor can lead to severe bleeding during injury or spontaneous bleeding into the joints.

The Symptoms of Hemophilia are:
1.excessive bleeding during mild trauma(example: tooth extraction)

Sometimes internal bleeding may occur without the knowledge of the patient because the injury is so mild.

2.soft tissue hematomas (big blood clots) which can cause nerve compression

3.Hemarthroses (bleeding in the joints) and joint contactures

4.hematuria (bleeding in the urine) or epistaxis (nose bleeds)


Diagnosis of Hemophilia is often based on
1. family history of Hemophilia

2. history of bleeding following minor trauma

3. Blood clotting Factor VIII low on testing

4.Skin bleeding time and blood clotting time abnormal

The complications of Hemophilia are:
1. Anemia

2. damage to bleeding joints

3. shock and death

The treatment of Hemophilia is by:

1.Blood transfusion or replacement of blood clotting factors VII cryoprecipitates

2.Aspiration of blood from bleeding joints

3.Avoid joint immobility to prevent contractures

4.Avoidance of injury

5.Careful preparation for dentistry or surgery

6.Proper genetic counseling

The prognosis of Hemophilia is:
Prognosis is good for hemophilia patients with modern therapy.

Most patients are able to live normal lives.

Rarely life threatening bleeding may occur.

The Prevention of Hemophilia is through:
Genetic counseling and testing for Hemophilia

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