haemophilia sample

HAEMOPHILIA

Type of Documents : Assignment

No of Words : 2300

Disclaimer: This is a sample document prepared by assignmentprime.co.uk and has been

submitted on turning. To order the similar paper please contact at:

Email: [email protected]

Phone: (UK) +44 203 3555 345

Website: www.assignmentprime.co.uk

Email: [email protected], Phone (UK) + 44 203 3555345 Website: www.assignmentprime.co.uk

Table of Contents

Introduction .................................................................................... Error! Bookmark not defined.

Aetiology........................................................................................ Error! Bookmark not defined.

Epidemiology ................................................................................. Error! Bookmark not defined.

Pathogenesis .................................................................................................................................... 3

Cellular, pathophysiological and systemic symptoms .................................................................... 5

Diagnostic markers of disease ........................................................................................................ 5

Treatment ...................................................................................................................................... 6

http://www.assignmentprime.co.uk/


Introduction

Haemophilia is a non infectious disease as well as an inherited condition that affects the ability of blood

to clot. In this an affected individual is basically found to bleed for long durations as well as spontaneously than

a healthy person especially during surgery or after injury (Lee, Berntorp and Hoots 2011). The condition is

basically passed from parent to child. In United Kingdom, there is a presence of 6000 people that are suffering

from haemophilia mostly being males due to their inherited nature.

Aetiology

The disease is basically found to take place in people who basically lack the presence of an essential

protein in the blood known as clotting factor. The reason for people getting haemophilia is due to non

inheritance of the gene from the parents which basically is passed down from parent to child under normal

circumstances (Scharrer and Schramm 2005). Haemophilia A has got an absence of factor 8 clotting while

haemophilia B patients bear a lack of factor 9.

Epidemiology

The disease is basically prevalent all over the world and is basically found to affect males due to the

inheritance nature which is genetic in origin. However, in Europe Haemophilia A has been reporting 1 cases per

5000 male births. On the other hand Haemophilia B Reports of approximately 1 case per 30,000 males

(Raymond, 2009). Approximately one third of them have been not found to have any family history. The

acquired haemophilia has been found to have a rate of 1.34 cases per million populations every year thereby

making it rarer.

Pathogenesis

Haemophilia is hereditary genetic disorder which impair the ability of the body to control the clotting in

blood or coagulation which is used for stopping of blood when a blood vessel is broken. The pathogenesis of a

diseases is the mechanism through which diseases is caused. Cases of haemophilia arise in a person having a

genetic disorder which means that the person is born with this genetic disorder. Chromosomes are in pairs

where females have XX chromosomes and males have XY (Fraser, 2012). Haemophilia is carried by only the X

chromosome. This is caused by a defect in one of the genes that belong to the clotting factors which lie at the

X chromosome of the DNA. The lack of clotting factor VIII is responsible for occurrence of hemophilia. This

disease mostly affects the males as genes can pass from that of mother to son and son lacks the second X

chromosome. If a woman is affected with an X



This is a sample Assignment paper. For complete

Document

Contact us: +44 203 3555 345




chromosome that is mutated with an unaffected man then there are chances to have an affected boy (Georg,

2005). Since this X chromosome is not present in males as genetic makeup of males is that of XY,

therefore, they are not able to make up for the defective gene when passed from mother to son. In this case

of inheritance girls are less prone to have the diseases. This is so because for presence of hemophilia it is

necessary that girls have the defective gene on both XX of the genetic makeup. Such a case is rare to happen

(Helle, 2006).

Though most of the cases of hemophilia are inherited it can also cause as a result of spontaneous

mutation in genes. In addition to this, it can also occur when body forms antibodies to the factor of clotting in

blood which are then able to prohibit process of clotting from working (Stuart, 2012).

Cellular, pathophysiological and systemic symptoms

A large number of symptoms are associated with the disease. These are related to Cellular, path

physiological and systemic level. These are in form of deep internal and external bleeding episodes, pain in

joints, blood in stool, prolonged bleeding from cuts, nose bleeds without a known cause, tightness of joints,

unexplained irritability, lasting headache, vomits, fatigue and double vision. It can also lead to atheroma, cell

death, neoplasia and many forms of acute infections (Barak and Nandi, 2011).

Diagnostic markers of disease

The diagnostic markers for haemophilia are in form of taking the blood sample followed by measuring

the level of factor activity found in blood. if mother is found to be a carrier then, prenatal diagnosis can be

carried out. It can further be monitored via testing the presence of anaemia. For this a complete blood count

can be performed in terms of measuring the RBC, WBC as well as platelet count (Rowey, 2002). Other than this

other iron status blood tests in form of Serum Ferritin, Iron, Total Iron Binding Capacity, Reticulocyte Count

etc. can also be carried out. A blood test can also be performed so as to test the presence of haemophilia. It

will help to identify whether the child has got the presence of haemophilia A/ B or not and what is the level of

severity. Genetic testing can also be useful in order to determine whether the child has got the potential of

getting the disease or not.

These may involve for testing the sample of blood tissue so as to look for the signs of any kind of genetic

mutation that may cause haemophilia. Many other tests can also be carried out during pregnancy (Collins and

Joyce, 2008). These may be in form of chorionic villus sampling where a sample of placenta may be removed



from womb and can be tested for the presence of haemophilia gene. Other than this, amniocentesis can also

be carried out where a sample of amniotic fluid is taken out for testing.

Treatment

A treatment plan to treat haemophilia is as follows. These are;

• Preventive treatment – Here, medications can be taken so as to prevent the usual episodes

of bleeding as well as the joint and muscle damage. Regular injections of the blood clotting factor

can also be ensured.

• On demand treatment – These may involve for the intake of medications in response to stop

the episodes of prolonged bleeding. Injections of octocog alfa or a medication desmopressin which

is a synthetic hormone can be provided to the patients (Bringing About Innovation in Haemophilia

Treatment, 2013).

This is a sample Assignment paper. For complete

Document

Contact us: +44 203 3555 345




References

Barak, A., and Nandi, J. S., 2011. Orphan drugs: pricing, reimbursement and patient access.

International Journal of Pharmaceutical and Healthcare Marketing. 5(4). pp.299 - 317

Bringing About Innovation in Haemophilia Treatment. 2013. [Online]. Available through:

<http://www.baxterhealthcare.co.uk/healthcare_professionals/therapies/hemophilia.html>.

[Accessed 27 May 2013].

Collins, C. G., and Joyce, P., 2008. Focus on quality in healthcare in Ireland. International

Journal of Health Care Quality Assurance. 21(2). pp.219 - 228

Fraser, K. C. 2012. Historical Dictionary of the British Monarchy. Reference Reviews. 26(1).

pp.56 – 57.

Georg, I., 2005. Trivial and non-trivial machines in the animal and in man. Kybernetes, 34(3/4).

pp.508 – 520.

Helle, V. K., 2006. The impact of e-resources on document supply in a corporate pharmaceutical

library: the experience of Novo Nordisk. Interlending & Document Supply. 34(3). pp.105 –

108.

Lee, A. C., Berntorp, E. and Hoots E. W., 2011. Textbook of Hemophilia. John Wiley & Sons.

Raymond, C., 2009. [pdf]. vCJD infection reported in a person with hemophilia in UK: FVIII

concentrates considered most likely cause. Available through:

<http://www.hemophilia.ca/files/2009-02-

19%20CHS%20and%20AHCDC%20vCJD%20infection%20-%20EN.pdf>. [Accessed 27

May 2013].

Rowley, W. R., 2002. Biotechnology overview: Applications and forecasts. Foresight. 4(4).

pp.4 – 13

Scharrer, I. and Schramm W., 2005. Thirty-fourth Hemophilia Symposium. Springer.

Stuart, H., 2012. Green's Dictionary of Slang. Reference Reviews. 26(4). pp.30 – 32.


haemophilia sample

Education