Severe hemophilia A
ORPHA:169802Clinical subtypeX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)27
Очень частый (80–99%)2
HP:0003125Reduced factor VIII activity
HP:0003645Prolonged partial thromboplastin time
Частый (30–79%)8
HP:0000421Epistaxis
HP:0000978Bruising susceptibility
HP:0001058Poor wound healing
HP:0001386Joint swelling
HP:0001934Persistent bleeding after trauma
HP:0004846Prolonged bleeding after surgery
HP:0005261Joint hemorrhage
HP:0030140Oral cavity bleeding
Периодический (5–29%)17
HP:0000132Menorrhagia
HP:0001376Limitation of joint mobility
HP:0001903Anemia
HP:0002170Intracranial hemorrhage
HP:0002239Gastrointestinal hemorrhage
HP:0002315Headache
HP:0002829Arthralgia
HP:0003121Limb joint contracture
HP:0005187Progressive joint destruction
HP:0008330Reduced von Willebrand factor activity
HP:0012233Intramuscular hematoma
HP:0012541Cephalohematoma
HP:0012587Macroscopic hematuria
HP:0030137Prolonged bleeding following circumcision
HP:0100309Subdural hemorrhage
HP:0100310Epidural hemorrhage
HP:0100769Synovitis
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 2.8 | Europe | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)