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Updated: Dec 24, 2025

A Precision Medicine Tool for Measurement and Monitoring of Hemoglobin S in Sickle Cell Disease Patients Receiving Transfusion Therapy
[Diagnostics on suspicion of a bleeding disorder]
Lize F D van Vulpen1, Iris M Wichers2, Rolf T Urbanus1
1UMC Utrecht, Van Creveldkliniek, Utrecht.
Recognizing bleeding disorders is crucial, especially for women. Early diagnosis through family and bleeding history, alongside targeted coagulation treatment, can prevent severe complications.
Area of Science:
- Hematology
- Internal Medicine
- Genetics
Background:
- Bleeding symptoms are common, but underlying bleeding disorders are often missed.
- Women are disproportionately affected by bleeding disorders due to menstrual and obstetric blood loss.
Purpose of the Study:
- To highlight the importance of recognizing and diagnosing bleeding disorders.
- To emphasize the role of family and bleeding history in diagnosis.
- To outline appropriate diagnostic and treatment strategies for bleeding disorders.
Main Methods:
- Review of diagnostic approaches for bleeding disorders.
- Emphasis on detailed patient history (family and personal bleeding history).
- Discussion of initial laboratory tests including activated partial thromboplastin time (aPTT), prothrombin time (PT), platelet count, and von Willebrand factor activity.
Main Results:
- Thorough history taking is paramount for identifying potential bleeding disorders.
- Specific laboratory tests (aPTT, PT, platelet count, vWF activity) are key initial diagnostic tools.
- Global haemostasis tests lack added diagnostic value; normal results do not exclude all bleeding disorders.
Conclusions:
- Early recognition and diagnosis of bleeding disorders are essential for effective management.
- Individualized treatment plans and timely coagulation factor treatment can prevent life-threatening bleeding complications.
- Consultation with a coagulation specialist is recommended for suspected bleeding disorders, even with normal initial test results.
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