Case Study 6.1 J.S., a 13-year-old male, has hemophilia A. He is entering middle
ID: 139965 • Letter: C
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.Explanation / Answer
ANSWERS
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.
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