Hemophilia

Question 1

What type of genetic disorder is hemophilia?

Answer 1

X-linked recessive disorder

This means the gene responsible for hemophilia is located on the X chromosome.

Question 2

Who is the carrier of hemophilia?

Answer 2

Mother

Mothers can be carriers of the hemophilia gene and pass it to their children.

Question 3

What is the earliest sign of hemophilia?

Answer 3

Joint bleeding aka hemarthrosis

Hemarthrosis refers to bleeding into a joint cavity.

Question 4

What is a late sign of hemophilia?

Answer 4

Joint destruction (fracture, shortened height)

Late signs indicate more severe complications from untreated hemophilia.

Question 5

What is the deficiency associated with classic hemophilia?

Answer 5

Factor 8 deficiency

Classic hemophilia is also known as Von Willebrand disease.

Question 6

What is the management for Factor 8 deficiency?

Answer 6

Give factor 8 concentrate

This treatment helps replace the deficient clotting factor.

Question 7

What is the name of the disease associated with Factor 9 deficiency?

Answer 7

Christmas disease

Christmas disease is also known as Hemophilia B.

Question 8

What is the management for Factor 9 deficiency?

Answer 8

Give factor 10 concentrate, replacement of clotting factor

This is necessary to ensure proper blood clotting.