Hemophilia
From which tests we will get to know it's Hemophilia?
- In diagnosing hemophilia, a combination of clinical evaluation and laboratory tests is typically used to assess the level of clotting factor in the blood and to determine the specific type of hemophilia (A or B). Here are the key tests and evaluations used in the diagnosis of hemophilia:
- Medical history and examination —The HEMATOLOGIST IN MUMBAI will ask about family history of bleeding disorders and symptoms such as excessive bleeding and bruising.
- Clotting Factor Assays: measuring the levels of specific clotting factors in the blood. For hemophilia A, measuring factor VIII levels, while for hemophilia B, factor IX levels are tested. If these clotting factor levels are significantly lower than normal, it suggests the presence of hemophilia.
- Bleeding Time Test: This test evaluates how long it takes for a small, standardized wound to stop bleeding.
People with hemophilia typically have an extended bleeding time. - Prothrombin Time (PT) and Partial Thromboplastin Time (PTT): These tests assess the overall function of the clotting cascade.
In hemophilia, the PTT is often significantly prolonged. - Genetic Testing: Genetic testing may be used to confirm the specific genetic mutation responsible for hemophilia and determine its severity.
This can be particularly helpful for family planning and genetic counseling. - Factor Activity Tests: In addition to measuring factor levels, a specific test called a factor activity assay can be performed to determine the functional activity of the clotting factors. This can help assess the severity of the disorder.
- Von Willebrand Factor (VWF) Testing: Sometimes, von Willebrand disease can mimic hemophilia symptoms. Therefore, testing for VWF and its activity may be performed to rule out this condition.
It's important to consult with a BEST HEMATOLOGIST IN MUMBAI who specializes in bleeding disorders for an accurate diagnosis and to discuss the results of these tests. A proper diagnosis is crucial to develop an appropriate treatment plan and to provide genetic counseling for affected individuals and their families.