Quebec Platelet disorder Flashcards
1
Q
What is Quebec platelet disorder?
A
A bleeding disorder
- -decrease platelet count
- gain-of-function defect in fibrolysis
2
Q
What are the symptoms of Quebec Platelet Disorder?
A
Bruising easily Epistasis (nose bleed) Impaired epinephrine induced platelet aggregation Joint hemorrhage Menorrhagia Thrombocytopenia
3
Q
What gene is involved in Quebec platelet disorder?
A
PLAU gene on chromosome 10q22
heterogenous tandem duplication
4
Q
What is the inheritance pattern of Quebec platelet disorder?
A
Autosomal dominant
5
Q
What is the phenotype of the heterozygous in Quebec platelet disorder?
A
The person will express symptoms of the disorder
