Тяжка аутосомно-рецесивна макротромбоцитопенія
ORPHA:438207· ICD-10 D69.1· Severe autosomal recessive macrothrombocytopenia
Визначення(English summary)
A rare isolated hereditary giant platelet disorder characterized by severe thrombocytopenia and thrombopathy due to defects in proplatelet formation and platelet activation in homozygous patients. Clinical manifestation are recurrent bleeding episodes including epistaxis, spontaneous hematomas, and menorrhagia.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy