Haemophilia

A. Description

1. Haemophilia is a group of hereditary bleeding disorder characterized by deficiency in a blood

clotting factor.

2. the two most common forms of classic haemophilia (haemophilia A or factor VIII deficiency)
and Christmas disease (haemophilia II or factor IX deficiency ). The classic form account for
about 75% of all cases.

3.hemophilia is classified as severe , moderate ,or mild depending on the plasma level of the
coagulation factor involved.

B. Etiology and incidence

1.Hemophilia is transmitted by females as an X-linked recessive disorder. (Table 1 below).

2.It predominantly affects males, occurring in about 1 of every 8,000 live male births.

C. Pathophysiology

1.In haemophilia A, factor VII molecule is present but defective in its clotting function.

2. Haemophilia B involves a defect or deficiency of factor IX.

3.Clotting factor malfunction causes abnormal bleeding, due to impaired ability to form a fibrin
clot.

D. assessment findings:

1. Diagnosis is based on a history of bleeding episodes. Family history and laboratory studies
indication abnormal partial thromboplasin time and abnormal specific assays for factor VII or XI
platelet count. Prothrombin test , and bleeding times are normal.

2.carrier detection and prenatal diagnosis through amniocentesis are possible.

3.hemphilia is suspected in a newborn with excessive bleeding from the umbilical cord or after
circumcision.

4.common clinical manifestation in children include:

a) easy bruising

b) Prolonged bleeding from wound.

c) spontaneous hematuria

d) lower gastrointestinal bleeding

e) epistaxis

f) hemarthrosis (haemorrhages into joint causing pain, swelling and limited movement).

5 Disease complication may be manifested as:

a) Bone change, osteoporosis, and muscle atrophy, resulting in crippling deformities as

consequence of hemarthrosis.
b) Intracranial bleeding.
c) Gastointesinal tract hemorrhage, leading to intestinal obstruction.
d) Hematomase in the spinal cord ,resulting in paralysis.
e) Airway obstruction due to bleeding into the neck, mouth, or thorax.
f) Secondary complication from factor replacement such as hepatitis and immuno-
deficiency.