Hemophilia is a bleeding disorder that slows the blood clotting process. Patients show prolonged bleeding after an injury or surgery. In severe cases of hemophilia, continuous bleeding occurs after minor trauma or even in the absence of injury (spontaneous bleeding). Serious complications can result from internal bleeding. Milder forms of hemophilia do not necessarily involve spontaneous bleeding, and the condition may not become apparent until abnormal bleeding occurs following surgery or a serious injury.
The major types of this condition are hemophilia A (also known as classic hemophilia or factor VIII deficiency) and hemophilia B (also known as Christmas disease or factor IX deficiency). Although the two types have very similar signs and symptoms, they are caused by mutations in different genes.
Hemophilia B is caused by mutations in F9 gene, which encodes a protein called coagulation factor IX. It is located on the X chromosome and is inherited as an X-linked recessive disorder.
Complete analysis of the coding region and adjacent intron-exon boundaries of F9 gene is performed using Next Generation Sequencing technique.
Sample type: Peripheral blood in EDTA
Time to result: 4-5 weeks