X- linked disorders and Hemophilia A Flashcards Preview

Pathophysiology > X- linked disorders and Hemophilia A > Flashcards

Flashcards in X- linked disorders and Hemophilia A Deck (16)
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1
Q

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

A

Males

2
Q

What is the inheritance pattern of X-linked disorders?

A

Recessive, associated with X chromosome

3
Q

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

A

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

4
Q

What does Hemophilia A lack?

A

Factor VIII, essential to blood clotting

5
Q

What percentage of normal factor VIII is in mild hemophilia?

A

6 to 30-50%

6
Q

What percentage of normal factor VIII is in moderate hemophilia?

A

2 to 5%

7
Q

What percentage of normal factor VIII is in severe hemophilia?

A

1% or less

8
Q

When does mild or moderate bleeding occur?

A

local lesion, trauma such as surgery or dental procedure

9
Q

Can mild disorder not be detected in childhood?

A

Yes

10
Q

In severe hemophilia, when does bleeding occur?

A

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

11
Q

Where does bleeding happen?

A

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

12
Q

What are consequences of bleeding?

A

Inflammation of the synovium, acute pain, swelling

13
Q

What happens if left untreated?

A

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

14
Q

What should be avoided if I have Hemophilia A?

A

Trauma

Aspirin and other NSAIDs that affect platelet function

15
Q

How is it treated

A

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

16
Q

What are the most common symptoms

A

easy bleeding and joint pain

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