Hemophilia in children:Basic Information about hemophilia

Hemophilia is a common bleeding disorder in children (it is the most common hereditary coagulation disorder). Hemostasis is the process of stopping bleeding and this process needs three main elements : contraction of vascular wall, platelets and clotting factors (coagulation factors) which are 13 in number.

Absence or deficiency of one of these clotting factors will lead to failure to stop the bleeding. Hemophilia A (the commonest type) is the deficiency of factor 8(VIII) which is known as the anti-hemophilic globulin.

Inheritance:

The type of inheritance of hemophilia is called X-linked recessive. This causes the disease to be more common in boys who inerit it from their mothers. The mother acts as a carrier (she has one abnormal gene and another normal one.

Hemophilia can be discovered by bruising, bleeding and hematoma on exposure to minor trauma (trauma or injuries that are unlikely to cause excessive bleeding in normal individuals). It is usually presents with:

• Bleeding from the umbilical stump or even as intracranial haemorrgahe (in youn infants).
• Excessive bleeding after circumcision.
• Bleeding from body orificies : epistaxis(bleeding from the nose), red urine or bleeding gums.
  
• Excessive bruising after minor traumas.
  
• Large hematomas after intramuscular injections.
• Bleeding in a joint: the joint is tender, red, painful with limited movement.
• Also, it can be presented with excessive opration following a minor procedure such as a tooth extraction.
  

Hemophilia can be classified into 3 types or degrees depending on the amount and activity of the clotting factor number 8:

* Mild: the percentage of factor VIII is between 5-25%. The child has some amont of factor 8. This type is not usually detected untill a minor procedure like a tooth extraction or a serious injury.

* Moderate: There are only 1-5% only factor 8.

* Severe: less than 1%.

In the last 2 degrees the child may have spontaneous bleeding and bruising on slight traumas as well as joint hematomas.

How to diagnose hemophilia:

The diagnosis is done by talking blood samples and performing the clotting time, APTT, factor VIII assay and also platelet count and other bleeding tests should be done to exclude other causes of bleeding.

Careful history taking and genetic counseling are important aspects in the diagnosis and to advice the mother about the possibilities of having more children with hemophilia.

1. General and conservative measures:
   
   • Avoid trauma and IM injections.
   • Pressure bandages and cold packs.
   • Fixationo of affected joints.
   • Physiotherapy and rehabilitation.
   • Application of thrombin locally on bleeding areas.
2. Drugs:
   
   • Desmopressin or DDAVP: It is found to increase the levels of clotting factor VIII.
   • Antifibrinolytics.
3. Replacement therapy:
   
   • To replace the deficient factor in the patient's blood by giving factor VIII recombinant or factor VIII concentrate.
4. In some cases, aspiration of blood from afftected joints can be done with extreme care and it needs a good doctor.

Other types of hemophilia:

Hemophilia B (Christmas disease) and Hemophilia C. They are caused by deficiency of factor IX and XI respectively and are similar to classic hemophilia (hemophilia A) but less common to occur.