Hemophilia in Canis familiaris - Discipline of Music

Hemophilia in Canis familiaris - Discipline of Music

Hemophilia in Canis familiaris (dogs) General information

MIM number: 306900 MIA number: 000438 What is hemophilia?

Hemophilia is a bleeding disorder of varying severity that is due to a deficiency in specific clotting factors. It is an X-linked, recessive disorder which is one of the few sex-linked traits in dogs. Hemophilia found in dogs are very closely related to the hemophilia found

in humans. Sex chromosome s Chromosomes present in a female dog

There are two major types of hemophilia: Hemophilia A is defective in coagulation factor VIII and is sometimes called royal hemophilia because it occurred in descendants of Queen Victoria. Hemophilia B is defective in coagulation

factor IX and is also known as Christmas disease because it was first observed in a patient named Stephen Christmas. Both hemophilia types are X-linked disorders but however differentiated

because it occurs on different genes on the X chromosome. History Queen Victoria Molecular Genetics of hemophilia

The molecular basis of hemophilia B are mutations in the F9 gene. This genetic disorder is caused by many different types of mutations such as:

Deletions Insertions Point mutations Duplications Inversions

Because males have only 1 X chromosome, a male dog is either affected or clear of the defect. Females, with 2 X chromosomes, may be affected (abnormal gene on

both chromosomes), clear, or a carrier with no clinical signs (one gene affected). In effect, the disease is carried by females but affects mostly males. Factor IX F9 gene

Cytogenetic Location: Xq27.1-q27.2 The factor IX gene is about 34kb long. Encompasses 8 exons and 7 introns. Encodes a protein that

consists of 415 amino acids And has a molecular weight of 57 000D How does hemophilia work? Clotting Cascade Factor XII

Types of dogs affected Bull Terrier Airedale Terrier Lhasa Apso

Labrado Clinical signs of hemophilia B Symptoms vary widely, based on the severity of the bleeding disorder bloody diarrhea bleeding under the skin

lameness Clinical signs of hemophilia B Where hemophilia is more severe, you may see signs of a problem at a fairly early age Pups may have prolonged bleeding associated with the loss of baby teeth. Bleeding under the skin

Bleeding into muscles or joints will often cause lameness. Unfortunately, dogs with severe hemophilia often die or are euthanized because of recurrent or uncontrollable bleeding problems. Detection of hemophilia

Diagnosis is made through blood tests to determine: Blood clotting Level of clotting factors Missing clotting factors How is hemophilia treated?

There is no cure for this disorder. Periodic transfusions Administer fresh plasma, fresh frozen plasma, or cryosupernatant (factor IX) plasma.

Gene Therapy

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