Case Study 6.1 J.S., a 13-year-old male, has hemophilia A. He is entering middle

Question

Case Study 6.1 J.S., a 13-year-old male, has hemophilia A. He is entering middle school and wants to play intramural football. Think about a clinical model most related to this diagnosis. From your reading related to genetic disorders, answer the following questions: 1. What is the pathology associated with hemophilia? 3. What are the risks of his passing hemophilia on to 4. What are the treatment options for hemophilia? 2. What are the clinical manifestations? his future daughters? Sons? 5. What are the risks related to treatment of hemo- philia? 6. What should be the recommendations made in light of his request to play football? Log onto the Internet. Search for a relevant journal article or Web site that details hemophilia to con- firm your predictions.

Explanation / Answer

Haemophilia is a rare inherited disorder of the body’s blood clotting mechanism. This X-linked recessive disorder chance in 1:10,000 live male births a year and there are no dissimilarity of prevalence in different ethnic groups.

Haemophilia can be divided into two categories:

haemophilia A and B - characterised by a deficiency or absence of clotting factor VIII and IX .

In hemophilia A, the missing substance is factor VIII. The extend tendency to bleeding becomes  recognizable early in life and may lead to severe anemia or even death.

3)The transmission of this condition is characteristically sex-linked, being intimate almost exclusively in males but transmitted only by females; sons of a male with hemophilia are normal, but daughters, although apparently normal, may transmit the trait as an overt defect to half their sons and as a recessive or invisible trait to half their daughters.

in simple words , hemophilia almost always occurs in boys and is passed from mother to son through one of the mother's genes.

4) treatment :

Those with mild and moderate haemophilia A usually require only short-term treatment to faultless their clotting defect pre-operatively, following trauma and before dental extractions and unchanging treatment requiring local anaesthesia. groups of patients already have some circulating factor VIII, injecting desmopressin - a synthetic form of the hormone vasopressin - will result in stored factor VIII being released from the endothelial linings of the blood vessels.

Most children and young people with severe haemophilia are treated at regular intervals (3 times a week) with clotting factor concentrates to protect their clotting factor levels are always keep above 0.03-0.04IU/dl for factor VIII or IX.

5) risk related treatment :

The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly injected into a vein. These infusions help replace the clotting factor that's missing or low.

Complications of replacement therapy include:

>Developing antibodies (proteins) that attack to clotting factor

>Developing viral infections from human clotting factors

recombinent DNA rechnology

2)clinical manifestations of hemophilia A:

Its a spectrum of signs and symptoms that vary in seriousness  from patient to patient

1) Hemophilia A is caused by a mutation in the gene for factor VIII and deficiency of clotting factor.

People with hemophilia bleed easily, and blood takes longer time to clot. People with hemophilia can spontaneous or internal bleeding and have painful, swollen joints because to bleeding into the joints. This rare but serious condition can have life-threatening complications.

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