Diagnosis of Hemophilia
If hemophilia is suspected due to prolonged bleeding, abnormal bruising, or a family history of bleeding disorders, a physician or hematologist will conduct a thorough clinical evaluation, detailed family pedigree study, and specialized laboratory coagulation tests.
Diagnostic Laboratory Blood Tests
Blood tests are essential to evaluate the clotting cascade and confirm the exact diagnosis:
- Activated Partial Thromboplastin Time (aPTT): Measures how long blood takes to clot via the intrinsic pathway. In hemophilia, aPTT is typically significantly prolonged.
- Prothrombin Time (PT) & Platelet Count: Typically normal in persons with hemophilia, helping rule out other hematological disorders.
- Specific Factor Assays: Quantitative tests measuring the precise percentage of Factor VIII(Hemophilia A) or Factor IX(Hemophilia B) activity in the plasma.
- Inhibitor Testing (Bethesda Assay): Screens for neutralizing antibodies (inhibitors) against clotting factors.
Severity Determination
The specific factor assay accurately identifies the severity of hemophilia:
Severe: Factor level < 1% of normal.
Moderate: Factor level 1% to 5% of normal.
Mild: Factor level 5% to 40% of normal.
Prenatal Diagnosis & Carrier Testing
When a maternal carrier state is identified in a family, testing can be performed during pregnancy:
- Chorionic Villus Sampling (CVS): Performed at 10 to 12 weeks of pregnancy to analyze fetal DNA for known familial mutations.
- Amniocentesis: Conducted around 15 to 18 weeks of pregnancy for genetic confirmation.
- Cordocentesis (Fetal Blood Sampling): Performed at 18 to 20 weeks to measure factor levels directly if genetic testing is inconclusive.
The Hemophilia Society Rajkot provides guidance, carrier detection support, and laboratory factor assays for patients and families across Saurashtra.