Hemophilia

 

Hemophilia

Definition

It is a coagulation disorder characterized by congenital deficiency of factor VIII.

Aetiology

1.Incidence: It is a rare  disorder.

2.Age:From birth.

3.Sex:Male.

4.Congenital.

5.X-linked dominant inheritance.

6.Women cannot suffer from this disease, but they are carriers,so that their male offspring can suffer from this disease.

7.There is a deficiency of coagulation factor VIII(antihaemophilic globulin) in the blood.

 

Clinical features

1.Uncontrollable bleeding from cuts and wounds.

2.Ecchymosis.

3.Bleeding from mucous membrane and internal hemorrhage.

                  .Bleeding gums.

                  .Haemoptysis.

                  .Bleeding from care.

                  .Intracranial haemorrhage.

                  .Haemorrhage into the spinal cord.

                  .Haemarthrosis.

4.Chronic arthritis due to repeated haemorrhages into the joint and incomplete absorption of that blood.

Investigations

1.Bleeding time:Normal.

2.Clotting time:Prolonged.

3.Factor VIII assay:Low.

 

Treatment

1.Cryoprecipitate: it contains high concentration of factor VIII.

2.Fresh frozen plasma.

3.Blood transfusion as required.

 

Prevention of haemorrhage

1.Avoiding occupational and other trauma.

2.Hospitaliztion and correction of the clotting factor deficiency prior to any operation, howerver minor it may be.

3.Maintenance of dental hygiene,so that tooth extraction is not required for dental caries.

4.Use of aspirin is avoided.

5.Correction of anaemia by therapy with iron and folic acid.