Coagulation and Haemophilia Basic Gene Essay

Submitted By kragen450
Words: 2001
Pages: 9

Window Pane Summary – Source 1
Disease/Disorder: Haemophilia

Genetic cause:

Haemophilia A:
Blood factor XIII deficiency
Haemophilia B:
Blood factor IX deficiency
Can be genetically passed down
Mostly affects men, women are usually carriers
Can be carried through generations as a recessive

Individual characteristics:

Symptoms of haemophilia can include:
Bleeding into joints, muscles or soft tissues (sometimes without an obvious injury).
Prolonged bleeding after cuts, bites or minor surgery (e.g. tooth extraction or circumcision).
Bruising on the surface of the skin.
Blood in the urine.

Current treatment/therapy:
Supplementary tablets that aid in supplementing the missing blood factor (either missing factor VIII or IX)
Medical injections. The intervals of these injections depends on the type of haemophilia the patient has, the severity of the disease and other common medication factors such as weight
IM (intra-muscular) injections are not to be used especially if the patient has bleeding in the muscle and joints
Current research:
Gene Therapy:

Possible new therapy being tested and researched about currently.
Has been tested on dogs with naturally occurring haemophilia type A.
The results showed a dramatic decrease in the number of cases of profuse bleeding over three years
New way to insert blood factor VIII and IX
Possible/suggested future research:
Gene therapy
Gene replacement therapy: the faulty gene is replaced with a cell that does not have blood clotting factors.

Other important facts:
1 in 7000 men have haemophilia
Women don’t get usually affected
Is carried in X chromosome
Usually women are carriers

Source:
"The Royal Children's Hospital Melbourne." Clinical Practice Guidelines: Haemophilia. N.p., n.d. Web. 10 May 2014. .

Comment:
Trustworthy source, government backed and funded. Reputable hospital. Publishes clinical guidelines for public use. If the government approves of these guidelines, that means that it has been thoroughly checked and can be trusted.
Window Pane Summary – Source 2

Disease/Disorder: Haemophilia

Genetic cause:
Fault in Formulation of blood clotting factors VIII and IX. This results in the formulation of Haemophilia A and B respectively.
Gene defect is passed down through generations from reproduction of a affected male and a female or a carrier female and a male
On very rare cases, some children with unaffected parents may have a mutation fault and develop haemophilia even though the person has no genetic history of haemophilia.
Individual characteristics:
X-linked gene
Always passed down via x gene
Usually, females are carriers
Current treatment/therapy:
Supplement therapy: clusters of blood factor VIII and IX are specifically injected into the veins of the patient
Tablets are taken orally
The tablet supplement the deficient genes of the patients.
Current research:
Gene therapy:
The faulty genes are repaired using a sequencing system
An unaffected gene is connected to an affected gene. As the gene clones itself, the new gene will be cloned
Possible/suggested future research:
Increased absorption of supplementary blood factor tablets.
Research better formulated supplements to help patients have less medication

Other important facts:
On rare cases, the gene may develop in off spring even the child has no genetic history of haemophilia
1 in 7000 men have haemophilia
1 in 10000 women have haemophilia
Haemophilia type A, the less acute type is more common than its severe counterpart, Haemophilia type B Source:
University of Sweden Haemophilia study by Doctor John Gihart
Comment:
Very reliable, as it is written by a university professor. Published by Swedish university. Backed and supported by real life case studies
Window Pane Summary – Source 3

Disease/Disorder: Haemophilia

Genetic cause:
Mutation of specialised cells, carried down by heritage genes or independent mutation
Insufficient amount…