X- linked disorders and Hemophilia A

Question 1

Who is more likely to experience the effects of a defective gene?

Answer 1

Males

Question 2

What is the inheritance pattern of X-linked disorders?

Answer 2

Recessive, associated with X chromosome

Question 3

What is the most common pattern of inheritance in carrier mothers?

Answer 3

carrier mothers carry one normal and one mutant allele on the X chromosome

50% chance of transmitting the defective gene to sons
50% chance of daughters being carriers of mutant gene

Question 4

What does Hemophilia A lack?

Answer 4

Factor VIII, essential to blood clotting

Question 5

What percentage of normal factor VIII is in mild hemophilia?

Answer 5

6 to 30-50%

Question 6

What percentage of normal factor VIII is in moderate hemophilia?

Answer 6

2 to 5%

Question 7

What percentage of normal factor VIII is in severe hemophilia?

Answer 7

1% or less

Question 8

When does mild or moderate bleeding occur?

Answer 8

local lesion, trauma such as surgery or dental procedure

Question 9

Can mild disorder not be detected in childhood?

Answer 9

Yes

Question 10

In severe hemophilia, when does bleeding occur?

Answer 10

In childhood, during circumcision. It’s spontaneous and severe (occurs several times a month)

Question 11

Where does bleeding happen?

Answer 11

In soft tissues, GI tract, hip, knee, elbow, ankle joints

Question 12

What are consequences of bleeding?

Answer 12

Inflammation of the synovium, acute pain, swelling

Question 13

What happens if left untreated?

Answer 13

Chronic bleeding and inflammation cause joint fibrosis and contractures,= major disability

Question 14

What should be avoided if I have Hemophilia A?

Answer 14

Trauma

Aspirin and other NSAIDs that affect platelet function

Question 15

How is it treated

Answer 15

Recombatant and plasma derived replacement of the missing factor VIII
Desmopressin (DDAVP)

Question 16

What are the most common symptoms

Answer 16

easy bleeding and joint pain