Who discovered hemophilia B (factor IX deficiency) ?

Who Discovered Hemophilia?

Coagulation Factor IX for Hemophilia B Therapy


Factor IX is a zymogen enzyme of the blood coagulation cascade. Inherited absence or deficit of the IX functional factor causes bleeding disorder hemophilia B, which requires constant protein replacement therapy. Reviewed herein are the current state in the manufacturing of FIX, improved variants of the recombinant protein for therapy, transgenic organisms for obtaining FIX, and the advances in...

Haemophilia B (Factor IX Deficiency)

If a woman is a carrier there is a 1 in 2 chance that any son will be affected and a 1 in 2 chance that any daughter will be a carrier. If a man with the disease fathers a child, any daughter will be a carrier and any son will be unaffected and will not carry the gene. There is a report of a daughter of a man with the disease who had a factor IX level of 5% and haemarthroses and this was though...

Ulnar artery pseudoaneurysm in a patient with factor IX deficiency (hemophilia B).

The hypothenar hammer syndrome describes a constellation of symptoms resulting from repetitive trauma to the hypothenar eminence, often due to the use of the hand as a hammer. Sequelae of this syndrome include both true and false aneurysms, as well as thrombosis of the ulnar artery due to its vulnerability to blunt trauma as it exits Guyon's canal. Although this is a relatively well-documented ...

Molecular Characterization of the Factor IX Gene in 28 Iranian Hemophilia B Patients

Background: Heterogeneous mutations in the human coagulation factor IX gene lead to an X-linked recessive bleeding disorder known as hemophilia B. The disease is distributed worldwide with no ethnic or geographical priority. Materials and Methods: The aim of this study was to characterize the factor IX gene mutations in 28 unrelated Iranian hemophilia B patients. Polymerase chain reaction (PCR)...