Hemophilia

Haemophilia

Hemophilia

Hemophilia

Is an inherited congenital blood disorder which is characterized by the disturbance of blood clotting factors.

It appears in males but is transmitted by females.

Aetiology:

1- hereditary ( about 80 % ) .

- Sex-linked, recessive trait.

- Caused by a gene carried on the x chromosome.

- Transmitted by the asymptomatic female who carry the haemophilia gene on one of their X-chromosome.

- Appears in males who have the hemophilic gene on their only x chromosome.

- Affected males may carry a latent form of the disease to female offspring.

- May appear in females if females carrier mates with a male haemophiliac.

2- spontaneous mutation may cause the condition when the family history is negative for the disease.

Altered physiology:

- Haemophilia results from the absence or malfunction of any one of the blood clotting factors from the plasma.

- The blood clotting factors are necessary for the formation of prothrombin activator which acts as the catalyst in the conversion of prothrombin to thrombin.

- The rate of formation of thrombin from prothrombin is almost optimal to amount of prothrombin activator available.

- The rapidity of the clotting process is proportional to the amount of thrombin formed.

The most common type of haemophilia:

1- Haemophilia A " classic haemophilia " - factor VIII deficiency.

2- Haemophilia B "Christmas disease " - factor IX deficiency.

3- Haemophilia C " factor deficiency " - autosomal dominant.

Clinical manifestation:

1-Seldom diagnosed in infancy unless excessive bleeding is observed from the umbilical cord or after circumcision, hematoma after injection or tooth extraction.

2- Usually diagnosed after the child become active.

Complications:

1- Airway obstruction.

2- Intestinal obstruction.

3- Compression of nerves.

4- Intracranial bleeding.

Prognosis:

- Normal lifespan due to advances in treatment.

- Death may occur due to intracranial haemorrhage.

Diagnostic Evaluation:

1- Routine bleeding and clotting test often normal.

2- Partial thromboplastin time (20-40 seconds ) prolonged normal 120 seconds.

3- Prothrombin consumption decreased.

4- Specific assays for clothing factors abnormal " factor deficiency".

Treatment:

1- Prevention of trauma and maintain the safe environment.

2- Provide emergency care for bleeding wounds.

- Control bleeding.

- Ice packs may be applied.

- Elevate the affected part.

3- Aspirins should be avoided.


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