A new hemophilia carrier nomenclature to define hemophilia in women and girls: Communication from the SSC of the ISTH
| Autor: | Roshni Kulkarni, Karin P M van Galen, Maha Othman, Robert F. Sidonio, Paula D. James, Dawn Rotellini, Rezan Abdul-Kadir, Roseline d'Oiron, Peter A. Kouides, Flora Peyvandi, Johnny Mahlangu, Rochelle Winikoff |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Pediatrics
medicine.medical_specialty congenital hereditary and neonatal diseases and abnormalities Isth Guidance and Guidelines Hemophilia carrier business.industry phenotype Recommendations and Guidelines Hematology medicine.disease bleeding Asymptomatic Thrombosis Clinical research women’s health hemic and lymphatic diseases hemophilia medicine medicine.symptom Clinical care business |
| Zdroj: | Journal of Thrombosis and Haemostasis |
| ISSN: | 1538-7836 1538-7933 |
| Popis: | Hemophilia A and B predominantly attracts clinical attention in males due to X‐linked inheritance, introducing a bias toward female carriers to be asymptomatic. This common misconception is contradicted by an increasing body of evidence with consistent reporting on an increased bleeding tendency in hemophilia carriers (HCs), including those with normal factor VIII/IX (FVIII/IX) levels. The term HC can hamper diagnosis, clinical care, and research. Therefore, a new nomenclature has been defined based on an open iterative process involving hemophilia experts, patients, and the International Society on Thrombosis and Haemostasis (ISTH) community. The resulting nomenclature accounts for personal bleeding history and baseline plasma FVIII/IX level. It distinguishes five clinically relevant HC categories: women/girls with mild, moderate, or severe hemophilia (FVIII/IX >0.05 and |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Plný text