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?

 2. What are the clinical manifestations?

 3. What are the risks of his passing hemophilia on to his future daughters? Sons?

 4. What are the treatment options for hemophilia?

 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.

Answer 1

1. Hemophilia is a rare hereditor bleeding disorder that is divided into hemophilia A,B and C based

    on which is the defective clotting factor.

     pathology of hemophilia

                      * Hemophilia is because of mutations of genes which are encode clotting

                        factors 8,9 and 11.

                     * Defect in the clotting factors leads to alteration in clotting process of the body

                        result in uncontrolled bleeding.

2. Clinical manifestations of hemophilia

                  * Hemorrhage occurs in various body parts (muscle,joints etc) even after a minor injury.

                  * Chronic pain and joint fixation occurs with recurrent hemorrages.

                  * Gastrointestinal bleeding and hematuria due to alterations in clotting process.

                  * Hematomas occurs in the muscles cause pheripheral nerve copression.

                  * Intracranial and extracranial hemorrages may occur due to impairments in clotting

                    process,

                  * Uncontrolled bleeding can occur when doing minor and major surgical procedures.

3. Risks of developing hemophilia A for offsprings of this patient

                  * Hemophilia is a result of mutation of X-linked chromosomes in genes so

                    the daughters of this patient receive two copies of X chromosome in which

                    one of this from the patient other is from mother. in this X chromosome of

                    mother can compensate deficiencies present on the patient chromosome

                    so daughter may become a carrer of hemophilia.

                  * Sons of this patient have high chances of developing hemophilia because

                     they may receive the only one copy of X chromosome from patient so become

                     a hemophiliac patient.

4. Treatment of hemophilia

                 * Administration of factor 8,9 and 11 based on type of hemophilia when active bleeding

                    occurs.

                 * Use of clotting factors 8,9 and11 before doing surgical or invasive procedures in hemophilic

                   patients.

                 * Plasmapheresis and immunosuppressive therapy used for hemophilic patient who develop

                   antibodies to clotting factor concentrates.

                * Medications like Desmopressin and aminocaproic acid used for control bleeding in

                   hemophilic patients.

5.Risk related to treatment of hemophilia

                * Appearance of inhibitors when administering clotting factors for hemophilia is

                   affect the treatment process.

                * Immunosupressive therapies used to prevent formation of antibodies against

                  clotting factors during hemophilia treatment may increase risk of infection in

                  that ptient.

6. Recommendations for this patient

                   * Educate the patient that hemophilia is a life threatining genetic defect and any type

                      of trauma or injury worsen the condition so try to avoid risky games like football.

                   * This patient can play indoor games instead of football if he is interested in participating

                      sports.

                   * Participation of parents in patient care and give proper assistance when doing risky

                      activities.