Hemophilia
Hemophilia is a broad term which refers to an inherited deficiency or defective synthesis of a factor or factors necessary in the
first stage of coagulation.
The different hemophilias include:
A. Hemophilia A which involves deficiency of factor 8
B. Hemophilia B with deficiency of factor 9; also known as Christmas disease
C. Hemophilia C lacks factor XI
We will discuss more on Hemophilia A since this is the classic hemophilia.
This is a severe coagulation disorder transmitted as an X- linked recessive trait.
This means that females with both X linked hemophili trait and normal X chfomosomes serve as carriers, and the male will manifest the disease.
The most common manifestation is bleeding.
In the newborn, there could be a spontaneous bleeding from the umbilical cord or following injury in circumcision, lacerations or iv punctures.
As a result of trauma, serious hemorrhage may occur.
Hemarthrosis is the hallmark of the disorder involving the big joints and this may result to crippling if not given due importance.
The management of the child with hemophilia is divided into 2 aspects.
One, the recognition and treatment of hemorrhagic episodes and secondly, there must be extra care and attention directed toward preventive measures against bleeding and long term musculoskeletal complications of the disease.
Genetic counselling is given attention too.