Sickle Cell Disease Case Study - PLEASE TYPE/DRAW THE PEDIGREE IN A...

Question Sickle Cell Disease Case Study – PLEASE TYPE/DRAW THE PEDIGREE IN A… Sickle Cell Disease Case Study – PLEASE TYPE/DRAW THE PEDIGREE IN A MICROSOFT WORD DOCUMENT!! When you write it out, it gets hard to interpret handwriting. Thanks so much!! J. Malone just finished her first year at ABC University School of Nursing when he had an acute medical incident upon arriving for his summer international health course in Quito, Ecuador. Almost immediately after disembarking from the plane, Mr. M began to experience severe pain on the left side of his abdomen, diarrhea and vomiting. To treat these symptoms, Mr. M was started on a regimen of ciprofloxacin and over the counter medications, but the extreme pain and discomfort did not resolve. Mr. M’s second day in Quito was the start of his international health experience, and not wanting to miss out on this opportunity, he dragged herself to class where he and the course faculty decided to go to the ER the following day if he continued to feel ill. Unfortunately, Mr. M’s symptoms persisted, so on his third day in Quito, he checked into the Hospital Metropolitano. He was seen quickly, and the initial ultrasound suggested an issue with his kidney or spleen. At first the physicians suspected a clot in his kidney, but a follow-up MRI suggested significant splenic damage. They wondered if this might be the result of some physical trauma such as an accident or right, but no events of this nature seemed to trigger this incident for Mr. M. Putting this aside for the moment, the physicians recommended an emergency splenectomy to remove Mr. M’s now highly inflamed spleen. Mr. M had his spleen removed and finally received some relief from his severe pain.Mr. M awoke in the Intensive Care Unit on the morning of his fourth day in Quito feeling much better. He was transferred to the recovery room and on his fifth day in Quito, he was visited by the hospital’s hematologist. As part of his work-up, Mr. M’s blood had been examined by isoelectric focusing (IEF), a specialized form of electrophoresis, and this analysis showed presence of both HbA and HbS forms of his hemoglobin B chain. (HbAS)Question 1: What does Mr. M’s genotype mean? Why did Mr. M show symptoms in Quito, but not in Midwest city X? Once Mr. M’s initial diagnosis was determined, he called home to share the news. Initiating this discussion prompted Mr. M’s mother to share some key aspects of his family history. Mr. M’s father was the youngest of 5 children, and he ha two older sisters and two older brothers. Mr. M’s mother is one of 6 children, and she had four older brothers and one younger sister. Both Mr. M’s mother and father are of African American descent, and the extended family has not generally traveled to locations that might challenge underlying genetic conditions. Interestingly, Mr. M’s father had a daughter with another women prior to starting a family with Mr. M’s mother. This young women, Mr. M’s half -sister, has a family of her own with her African American husband. Notably, her son has sickle cell anemia and received extensive blood transfusions through age 4. He is now 14 years old and his condition is relatively well-managed. Her younger daughter appears healthy. Questions 2: Draw a pedigree showing the family history described. On the pedigree, indicate, which, if any, individuals are obligate heterozygotes. What is the probability of Mr. M’s niece being a heterozygote? What is the probability of his half-sister conceiving another affected child? After Mr. M recovered from his surgery, he returned home safely by air since the planes are pressured appropriately. Mr. M’s family nurse practitioner and other interdisciplinary clinical partners in the practice designed a management plan to allow him to lead a normal life. A few years passed and Mr. M came to know Ms. P, another nurse practitioner practicing in his community. They began to spend more time together and eventually began to plan a life together and married. Mr. M’s nurse practitioner recommended a meeting with a genetic counselor to fully assess the couple’s genetic risk profile. The couple elected to have preconception carrier testing. Question 3: In addition to sickle cell trait (HbAS), what other types of abnormalities in HBB that could contribute to a type of sickle cell disease would be evaluated in this testing? Explain the concept of residual risk following a negative carrier screen. Carrier testing revealed that Ms. P has sickle cell trait (HbAS). No other abnormalities in HBB were detected. A year later, the couple gave birth to a son (they did not desire any other genetic intervention, such as prenatal testing with CVS or amniocentesis or preimplantation diagnosis). Question 4: In general, what is the probability that this newborn will have sickle cell disease (HbSS); be a sickle cell carrier (HbAS); or have normal hemoglobin (HbAA)? What additional information should Mr. M and Ms. P be provided related to sickle cell disease risk in future pregnancies? Health Science Science Nursing NURS 464 Share QuestionEmailCopy link Comments (0)