Overview & Definition
Bleeding disorders are conditions in which the blood does not clot properly. As a result, a person may bleed for longer than usual after an injury, surgery, dental procedure, or sometimes even without an obvious cause.
Hemophilia is an inherited bleeding disorder in which the blood is missing or has low levels of certain clotting factors needed to stop bleeding. Hemophilia A is caused by low Factor VIII, while Hemophilia B is caused by low Factor IX.
Types & Classification
- Hemophilia A – caused by low levels of clotting Factor VIII.
- Hemophilia B – caused by low levels of clotting Factor IX.
- Von Willebrand Disease (VWD) – caused by a problem with von Willebrand factor, which helps blood clots form properly.
- Platelet Disorders – problems with the number or function of platelets.
- Rare Clotting Factor Disorders – caused by deficiency of other clotting factors.
Underlying Causes & Risk Factors
- Family history of a bleeding disorder
- Inherited genetic changes passed from parents to children
- Low or abnormal clotting factor levels
- Problems with platelet function or platelet count
- Certain medicines that increase bleeding risk
- Some liver or other medical conditions
Common Symptoms & Warning Signs
Diagnostic Evaluation
Diagnosis usually involves reviewing the patient's symptoms, family history, medical history, and blood test results:
- 🔍 Complete Blood Count (CBC) – evaluates hemoglobin, platelet count, and blood cell indices.
- 🔍 Coagulation Screening (PT/INR & aPTT) – measures how quickly blood forms clots.
- 🔍 Specific Factor Assays – quantifies activity levels of Factor VIII (Hemophilia A) and Factor IX (Hemophilia B).
- 🔍 Specialized VWD Panel – measures Von Willebrand Factor antigen (VWF:Ag), Ristocetin cofactor activity (VWF:RCo), and VWF multimers.
Treatment Options & Clinical Management
- 💊 Clotting Factor Replacement Therapy – infuses recombinant or plasma-derived Factor VIII or IX to control or prevent bleeding.
- 💊 Prophylactic Factor Administration – regular scheduled infusions to prevent joint damage in severe hemophilia.
- 💊 Non-Factor Monoclonal Antibody Therapy (Emicizumab) – routine subcutaneous prophylaxis for Hemophilia A (with or without inhibitors).
- 💊 Desmopressin (DDAVP) – stimulates release of stored Factor VIII and VWF in mild Hemophilia A and type 1 VWD.
- 💊 Antifibrinolytic Agents (Tranexamic Acid) – stabilizes clots during dental or mucosal bleeding procedures.
- 💊 FDA-Approved Gene Therapy Options – single-dose vector gene therapy evaluated for eligible adults with severe Hemophilia A or B.
Frequently Asked Questions
Hemophilia is an inherited bleeding disorder in which the blood does not clot properly because key clotting proteins (Factor VIII or Factor IX) are deficient or missing.
Hemophilia A is caused by low or missing Factor VIII, whereas Hemophilia B (Christmas disease) is caused by low or missing Factor IX. Both share similar bleeding symptoms but require distinct factor replacement treatments.