EBK CONCEPTS OF GENETICS
EBK CONCEPTS OF GENETICS
12th Edition
ISBN: 9780134818979
Author: Killian
Publisher: YUZU
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Chapter 13, Problem 2CS

A 30-year-old woman was undergoing therapy for β-thalassemia, a recessive trait caused by absence of or reduced synthesis of the hemoglobin p chain, a subunit of the oxygen-carrying molecule in red blood cells. In this condition, red blood cells are rapidly destroyed, freeing a large amount of iron, which is deposited in tissues and organs. The blood transfusions the patient had received every two or three weeks since the age of 7 to stave off anemia were further aggravating iron buildup. Her major organs were showing damage, and she was in danger of death from cardiac disease. Her physician suggested that she consider undergoing a hematopoietic (bone marrow) stem cell transplant (HSCT). Since these stem cells give rise to red blood cells, such a transplant could potentially restore her health. While this might seem like an easy decision, it is not. Advanced cases have a high risk (almost 30 percent) for transplantation-related death. At this point, the woman is faced with a difficult and important decision.

Why is it important that the physician emphasize to the patient that she must bear the responsibility for the final decision (i.e., that once she has considered all aspects of the decision, she act autonomously)?

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EBK CONCEPTS OF GENETICS

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