From the Research
Introduction to Hemophilia
Hemophilia is a rare congenital, recessive X-linked disorder caused by a lack or deficiency of clotting factor VIII (FVIII) or IX (FIX) 1. This condition is characterized by spontaneous bleeding, particularly into the joints and soft tissue, and excessive bleeding following trauma or surgery 2.
Causes of Hemophilia
The primary cause of hemophilia is a deficiency of coagulation factor VIII (FVIII) in hemophilia A or factor IX (FIX) in hemophilia B 1, 2. This deficiency is due to recessive X-chromosome linked mutations in the genes encoding these factors (F8 and F9, respectively) 1.
Types of Hemophilia
There are two primary types of hemophilia:
- Hemophilia A: caused by a deficiency of coagulation factor VIII (FVIII) 1, 2
- Hemophilia B: caused by a deficiency of coagulation factor IX (FIX) 1, 2
Other Inherited Bleeding Disorders
In addition to hemophilia, there are other inherited bleeding disorders, including:
- Von Willebrand disease (VWD) 3
- Rare factor deficiencies (I, II, V, V & VIII, VII, X, XI, and XIII) 3
- Inherited platelet function disorders 3
Diagnosis and Treatment
Diagnosis of hemophilia involves molecular genetic analysis to identify the causal genetic variants 1. Treatment typically involves replacement therapy with clotting factors, either on demand or as part of a prophylactic schedule 4.
Treatment Options
Treatment options for hemophilia include:
- Replacement therapy with clotting factors (FVIII or FIX) 2, 4
- Recombinant forms of factors VIII and IX 2
- Modified factor VIII and IX molecules with improved potency, stability, and circulating half-life 2
- Gene therapy, which has the potential for a definitive cure 4
Comprehensive Care
Comprehensive care for hemophilia and other inherited bleeding disorders involves a team of specialists, including a hematologist, nurse coordinator, physiotherapist, social worker, and specialized lab technologist 3. This team approach is critical for managing the disease and improving patient outcomes.
Special Considerations
Special considerations in the diagnosis and treatment of hemophilia include:
- The possibility of a combination of deficiency of more than one clotting factor 5
- The importance of karyotyping in females affected with hemophilia to identify underlying genetic conditions such as Turner syndrome 5
- The need for ongoing monitoring and adjustment of treatment to prevent complications and improve patient outcomes 3