Ms Thalia - Thalassemia

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Thalia is a 27 yr old woman with thalassemia. She has recently come to Ontario and is being seen for the first time by her new family physician.

She experiences fatigue and shortness of breath on exertion. She cannot do even the mildest of physical exercises or sports. Her problems were first recognized about age 5 when she was found to be jaundiced, pale and have prominent cheekbones. Her parents both worked for a Canadian bank in several countries overseas and there are only limited records of her health as a child. However, her hemoglobin levels usually range between 50 to 60 g/L but have been reported as low as 30 g/L.

Her mother (with some insight) refused to allow physicians to transfuse her daughter on a regular basis. She can recall having had a transfusion at age 13 in Italy so she would be allowed to fly back to Canada. She recalls having another transfusion before a cholecystectomy and splenectomy 5 years ago.

Ms. Pappas has no complaints of jaundice, arthritis, chest pain, palpitations, cough, skin rashes, fever, night sweats, or weight loss. She gets the occasional migraine-type headache. She is a non smoker and does not drink alcohol. She has no known allergies.

Both of Thalia's parents are from European immigrant families: her father�s family was from Cyprus and her mother�s from Italy. Thalia has one brother who is healthy. Her father and mother are both deceased. Her mother had a similar anemia all her life and died at age 43 of complications of iron overload. She has two maternal aunts who are unaffected. Her father died of heart disease.

At present, Thalia receives blood transfusions monthly in order to keep her hemoglobin level up. Sometimes it is difficult to obtain the B(+) blood she needs. Because of iron-loading from the blood cells she receives, she also has to regularly undergo iron treatment. But she has a 'reaction' to deferoxamine, the usual iron treatment drug which is given subcutaneously by pump.

Thalia and her partner of 7 years, Maryanna, have recently moved to Ontario from Nova Scotia. Maryanna is a hotel manager but Thalia is unable to work. They have moved to Ontario partly in the hope that they will have a better chance to adopt a child here than in Nova Scotia. The other reason is that Thalia has heard of an oral iron-chelating drug (Deferiprone) that is being tested in Ontario and she is hopeful that she get on the study and not have to continue to use deferoxamine.

Learning Issues


As a child, Thalia had to have a blood transfusion before taking a flight from Italy to Canada. Why? Describe the physiological basis for your explanation

  • Because the low-pressure environment of airplanes necessitates it
  • She may be able to compensate for the hemoglobin shortage in the normal atmosphere, but not in a low-pressure atmosphere such as an airplane's

Are bone marrow transplants viable treatments for hematological diseases such as Thalia's?

  • Yes.
  • First started in 1991 in Seattle
  • HLA type matching is the biggest issue
  • Not as prevalent because it is not absolutely necessary to survive


Discuss the effects of chronic fatigue on life experiences (educational success, social and personal relationships)

  • Inability to clean the house, etc.
  • This could be a representation of sick role, which is related to Munchausen syndrome and the like.


How would you perform genetic counselling, using Thalia's parents as an example?

Is there prenatal testing? What are the ethical issues involved with this testing?

  • Abortion of babies

What are selection factors for adoptive parents in Ontario?

Are there inter-provincial differences in adoption laws.


Transferring provincial health insurance from one jurisdiction to another: What are the laws? What is covered and what is not with regards to treatments (not just for thalassemia)?

Drug trials: When is it OK to break confidentiality agreements (Olivieri case)?

Health insurance benefits to partners in same-sex relationships