Carried by: Maladies HEMOrragiques MHEMO
References:
Clinician(s): Manal IBRAHIM-KOSTA, Sophie SUSEN, Camille PARIS
Biologist(s): Anne VINCENOT
Presentation
Haemostasis disorders are characterized by bleeding. They include haemophilia, rare coagulation and fibrinolysis disorders, von Willebrand disease and platelet disorders (decreased platelet count (thrombocytopenia) and platelet dysfunction (thrombopathy)).
Diagnosis is based on biological investigations, followed by either targeted sequencing of the relevant genes or by panel sequencing of genes associated with platelet disorders. Diagnostic tests may be negative, warranting whole genome sequencing.
Criteria before considering a discussion in MDM-FMG
- Age
- History of platelet disorder (and/or haemorrhagic syndrome)
- Family history +/- family pedigree
- Medical/surgical history
- Haemorrhagic score
- Previous treatment
- Clinical examination (haematological and extra-haematological manifestations)
- Results of biological investigations: complete blood count including platelet count and smear, prothrombin time, activated clotting time, fibrinogen, Factor II, Factor V, Factor VII, Factor VIII, Factor IX, Factor X, Factor XI, Factor XII, Von Willebrand factor activity and antigen, Factor XIII, vitamin C
- For platelet disorders (progression over time if possible)
- Specialized platelet investigations: platelet morphology including percentage of giant platelets and macroplatelets, platelet aggregation test, quantification of platelet GP, granule analysis, electron microscopy if performed, other tests (TPO, MYH10, HbF, etc.) if performed
- High-throughput panel sequencing results, if performed
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact
MDM FMG Haemostasis disorders
National
Marseille