Question

Introductory Assignment: Address the following in a handwritten paragraph of a least 500 words.
Hemophilia B

Answer 1

Hemophilia B is a sex linked recessive trait. It is called as Christmas disease because it was first discovered in a person named Stephen Christmas.

Genetics -

It is caused due to deficiency of blood clotting factor number 9. The gene for blood clotting factor number 9 is located on chromosome X that is why the disease is sex linked. For the expression of gene, two mutations are required in females, one in each X chromosome.

The females can be carrier or affected from this disease. If they are carrier then they have only one mutated copy of haemophilia B gene. But if they are affected from this disease then both the copies of hemophilia B gene are mutated.

The mails are always affected from this disease. This is because they are hemizygous X chromosome and required only one mutation to express the trait.

Symptoms -

The persons affected with this disease bleed longer than normal person's. This is because of absence of blood factor 9 which is responsible for clotting of blood. They have internal as well as external bleeding. The blood loss per bleeding his high as compared to normal bleeding.

Diagnosis -

The disease is diagnosed with the help of drawing Pedigree analysis of the family of the suspected person. Different tests and treatments are also available at HTC, hemophilia treatment centers.

Treatment -

The treatment of the disease is done by giving Recombinant clotting factors which are made with the help of biotechnology. The clotting factors are given intravenously to the patients.

Aminocaproic acid is an antifibrinolytic is used to prevent breakdown of clot. It is taken orally and then the clot is then preserved and used for further diagnosis.

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