Genetic Bleeding disorders

Question 1

Haemophilia A

Answer 1

Factor VIII defienciny
X chromsome linked disorder
Incidence is 1 in 5000 male births
Almost all cases are in male

Question 2

Symptoms of Haemophilia A

Answer 2

Effects of sever diseases - left knee joint, ankle
X ray shows destruction of joint space

Question 3

Haemophilia B

Answer 3

Inheritance through the X chromosome is the same as haemophilia A
Factor IX deficiency
Incidence is 1 in 25000 male births
Gene for Factor IX is near to FVII and F9

Question 4

Von Willebrand disease

Answer 4

vWF is a large protein, that form hight molecular weight multimeters
Gene for vWF found on chromosomes 12
Normal actions - Bind to factor VIII (to improve half-life), platelets and collagen at wound sites under sheer stress

Question 5

Symptoms of VW disease

Answer 5

Excessive bleeding after surgery or dentistry
Large brusises and easily
Nosebleed and bleeding gums
Excess bleeding from cuts