Gene mutations and inhibitor formation in patients with hemophilia B

• The nature of the mutation in the factor IX gene is an important factor in determining whether a patient with hemophilia B will develop an inhibitor. In a series of 62 Swedish families with hemophilia B, including 30 with the severe form, approximately one third of the families exhibiting deletions or nonsense mutations contained one member who developed an inhibitor. The risk for inhibitor development in family members carrying missense mutations was virtually zero.

Nyckelord

Deletions

Exon

Factor IX

Hemophilia B

Inhibitors

Missense mutations

Nonsense mutations

Paediatric

Publikations- och innehållstyp

art (ämneskategori)

ref (ämneskategori)