What are the tests to diagnose hemophilia in a young girl?

Question

Hello doctor,

My 17-year-old daughter has been showing symptoms that concern me. She experiences frequent and prolonged bleeding from minor cuts, as well as frequent nosebleeds that are difficult to stop. Additionally, she bruises easily, with large bruises forming even after minor injuries. I am apprehensive because I have a history of similar symptoms and was diagnosed with hemophilia. Given this family history, I am concerned that my daughter might also have hemophilia or a related bleeding disorder. Could you please advise on the appropriate diagnostic tests and potential treatment options for her? Please help.

Thank you.

Answer 1

Hello,

Welcome to icliniq.com.

I read your query and can understand your concern.

Your daughter may have a bleeding condition. However, it appears mild; usually, hemophilia occurs in men but rarely in women.

Females may have Von Willebrand disease (a type of bleeding disorder involving the clotting pathway) or other bleeding issues.

There are several tests available.

To determine hemoglobin (HB) and platelets, you must first obtain

Complete blood count (CBC).
Then, it would be best if you had PTT (prothrombin test) and APTT (activated partial thromboplastin) done (tests for assessing partial prothrombin levels).
Fibrinogen assay (clotting factor) done.

Based on these data, we can determine whether additional tests are required to confirm the diagnosis. Sometimes, it is only a platelet disease. So, there is a need to check the platelet size.

Given the diagnosis, we can discuss treatment approaches and prognosis. Without proper history and testing, it is hard to tell you about the future of treatment possibilities.

I hope this helps.

Thank you, and take care.

Regards.