What is Hemophilia B?

Hemophilia B
The patient on presentation with unilateral left cheek swelling. Facial and Scalp Swelling in the Pediatric Population With Hemophilia: A Diagnosis Pitfall. Widjaja W, Aggarwala S, Ballieux F, Vandervord J - Eplasty (2016). Not Altered. CC.

Hemophilia B is an X-linked disorder having severe factor IX deficiency.

What is the Pathology of Hemophilia B?

The pathology of hemophilia B is:

-Etiology: The cause of hemophilia b is mutations in coagulation factor IX.

-Genes involved: F9.

-Pathogenesis: The sequence of events that lead to hemophilia B includes the deficit in factor IX,  or by an acquired inhibitor that binds factor IX.

-Histology: The histology associated with hemophilia b  shows missing factor IX and hemarthrosis.

How does Hemophilia B Present?

Patients with hemophilia B typically affect males present at the age range of 26-45 years. The symptoms, features, and clinical findings associated with hemophilia b include spontaneous hemorrhages in joints, and petechiae.

How is Hemophilia B Diagnosed?

Hemophilia B is diagnosed using specific assays of factor IX.

How is Hemophilia B Treated?

Hemophilia B is treated by infusion of recombinant factor IX.

What is the Prognosis of Hemophilia B?

The prognosis of hemophilia B is poor.