Hemophilia B

Haemophilia B ; is a recessive X-linked genetic disorder involving a lack of functional clotting Factor IX.

20% of haemophilia cases.

Risk factors for hemophilia B include:1. Family history of bleeding2. Being male(One in 20,000–30,000

males are affected )

Hemophilia B-Factor IX

Factor IX ; is one of the serine proteasesof the coagulation system,a vitamin K-dependent glycoprotein

The factor IX gene is located on the X chromosome (Xq27.1-q27.2) on the “q” arm of the chromosome.

Mutations: deletions, insertions,inversion or point mutationsHemophilia B

• The Magiority have point mutations, most resulting in missense mutations

Hemophilia-

Hemophilia B-Leyden

 is a variation in which factor IX levels are below 1% until puberty when they rise, possibly reaching as high as 40-60% of normal.

This is thought to be due to the effects of testosterone at maturity.

Probably the only type of hemophilia that gets better, whereas other types require life long treatment with factor IX

Hemophilia B-Leyden

Haemophilia C

Haemophilia C is an autosomal genetic disorder involving a lack of functional clotting Factor XI.

Distinguished from Hemophilia A and B by the absence of bleeding into joints and muscles.

Occurs in both sexes & Heterozygotes show increased Bleeding .

Hemophilia C-Factor XI

• The gene encoding FXI is located on the p arm of chromosome 4 (4q35)

• Mutations of the FXI gene:• Majority are missense mutations• Nonsense mutations• Deletions/insertions• Splice site mutations

Hemophilia C-Autosomal Mode of Inheretance