ATIONAL CENTER FOR CASE STUDY TEACKING IN SCENCE Part IV- The Diagnosis Ms. Gonz

Question

ATIONAL CENTER FOR CASE STUDY TEACKING IN SCENCE Part IV- The Diagnosis Ms. Gonzalez and her team meet with the hematologist and determine that Tristan has severe hemophilia A. Use the information provided by the National Hemophilia Foundation (http://www.hemophilia.org/Bleeding-Disorders) Types-of-Bleeding-Disoeders/Hemophilia-A) and the National Institutes of Health Ihttp:lfwww.nlm.nih.gov medlineplus/encylarticle/000538.htm; heplight.nlm.nih.gowlcondition/hemophilia) to answer the following questions about hemophilia A. Questions 8. What is bernophilia A? What is the incidence of bemophilia A (i.e., how often does it occur)? 9. What genes are affected in hemophilia A? 10. What are symptoms of hemophilia A? 11. What treatments are used to help manage hemophilia A? 12. What are the three severity levels of hemophilia A? What are the differences/criteria for diagnosis? 13. How would you explain this diagnosis to the parents? Black and Blue with Love" by Mell and Harris Page 7

Explanation / Answer

8] Haemophilia A is a genetic disorder in which the blood is unable to clot after bleeding. It is caused by a missing or defective factor VIII which is a clotting protein. Although it is an inherited disorder, it has also been reported to be caused by a spontaneous mutation in the concerned gene.

This is a rare disorder with a fewer than about a million cases reported worldwide. It affects people of all racial and ethnic groups. About 1 out of every 5,000 male babies born are affected by this disease. At present, about 20,000 males in the United States are living with this disorder.

9] Haemophilia is caused by a genetic mutation of the genes that code for proteins that are essential in the blood clotting process. Haemophilia is an X-linked genetic disorder. This means that the gene is passed from the mother to her son. Only one defective gene is capable of expressing the disorder.

A mutation on the F8 gene on the X-chromosome is responsible for haemophilia B.

10] The common symptoms of haemophilia are unexplained an excessive bleeding from cuts and injuries or after surgery or dental work. Large bruises might appear on the skin without any reason. The person might develop pain, swelling and tightness in the joints. The affected person may suffer from nose bleeds and might even pass blood in urine and stool.

11] The treatment for haemophilia depends on the severity of the patient,s condition. There are two main approaches--preventive treatment and on-demand treatment.

Preventive treatment or Prophylaxis requires regular injections of clotting factor medicine. This may continue for life and they might need to remain in contact with their care team and go for regular follow-up appointments. Preventative treatment for haemophilia A involves regular injections of a medicine called octocog alfa.

In mild or moderate cases, treatment may only be necessary as an immediate response to bleeding.

The hormone, desmopressin is used to stimulate the production of clotting factor VIII and is injected into the patient to control the bleeding. Possible side effects of this hormone could be a headache, stomach pain and nausea

12] The three severity levels of hemophilia are. decided on the percentage of normal factor activity in blood. The normal range is 50%--100%. The three categories based on the %age of normal factor activity are ---

* Mild haemophilia -- 5% - 40%

* Moderate haemophilia -- 1% -- 5%

* Severe haemophilia -- less than 1%

Without proper treatment, haemophilia can be crippling and sometimes even fatal. Luckily, with modern treatment, most people with haemophilia can lead a full, active and normal lives.

Judging by the above criteria, the doctors decide upon the treatment that the patient will need and the medications to be provided.

13] First of all the cause of Tristan's condition will have to be explained to the parents. Once that is done, the nature and severity of the situation will have to be made clear. The parents should be told that although it is a lifelong condition, it is not fatal to life if the person is careful and follows the precautions. Tristan can lead a completely normal life if he takes the preventive measures and avoids any task which is physically risky. He can enjoy all the games and sports of his choice and be as normal as any other child of his age. Since Tristan has severe haemophilia, he will have to be extra careful and carry his medical kit with him wherever he goes, so that if an emergency arises, he can be attended to immediately. This will help to control the situation till he recieves proper medical attention.

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