The Hemophilias
This is a condition which refers to an inherited deficiency or defective synthesis of a factor necessary in the first stage of coagulation.
Often referred to as a disease afflicting the royalty, this disease has been found in Filipinos in significant numbers.
The most common of these deficiencies are:
1. Hemophilia A which lacks factor 8. This is also known as Classic hemophilia and the most common is 80% of cases
2. Hemophilia B which lacks factor 9. This is also known as Christmas disease which involves 15% of cases.
3. Hemophilia C which lacks factor 11
Clinically, these are what we see in affected individuals.
1. They have spontaneous bleeding. The newborns may have bleeding from their umbilical cord or following injury in the form of circumcision, lacerations or venipunctures.
2. Hemarthrosis – This is the hallmark of the disorder especially involving the big joints like in the knees, ankles, elbows and shoulders. This may result to crippling if not promptly addressed to
The management of this condition is being directed into three aspects.
1. The recognition and treatment of acute hemorrhagic episodes
2. Chronic care with attention directed toward preventive measures against bleeding and long term musculoskeletal complications of the disease
3. Genetic counselling
Hemophilia A is a severe coagulation disorder transmitted as an X-linked recessive trait. Females are usually the carriers, while males manifest the disease
Hemophilia B is also inherited as an X linked recessive trait; milder than classic hemophilia
Hemophilia C is transmitted as an incompletely recessive trait