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A 48-year-old woman of Mediterranean de- scent presents because of fatigue, arthralgias, discomfort in her right upper abdominal quad- rant, and polyuria. Laboratory tests are remark- able for elevated glucose level, elevated biliru- bin, low hemoglobin, elevated reticulocytes, and increased transferrin saturation. Cardiac testing shows moderate restrictive cardiomyop- athy. She frequently has required blood trans- fusions throughout her life. Which hereditary disorder does this patient most likely have?

A 48-year-old woman of Mediterranean de- scent presents because of fatigue, arthralgias, discomfort in her right upper abdominal quad- rant, and polyuria. Laboratory tests are remark- able for elevated glucose level, elevated biliru- bin, low hemoglobin, elevated reticulocytes, and increased transferrin saturation. Cardiac testing shows moderate restrictive cardiomyop- athy. She frequently has required blood trans- fusions throughout her life. Which hereditary disorder does this patient most likely have?

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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A 48-year-old woman of Mediterranean de- scent presents because of fatigue, arthralgias, discomfort in her right upper abdominal quad- rant, and polyuria. Laboratory tests are remark- able for elevated glucose level, elevated biliru- bin, low hemoglobin, elevated reticulocytes, and increased transferrin saturation. Cardiac testing shows moderate restrictive cardiomyop- athy. She frequently has required blood trans- fusions throughout her life. Which hereditary disorder does this patient most likely have? (A) Absence of the hemoglobin a-chain (B) Absence of the hemoglobin b-chain (C) Mutation resulting in increased absorption of dietary iron (D) Mutations in the gene encoding ankyrin (E) Mutations resulting in copper accumula- tion
Transcribed Image Text:A 48-year-old woman of Mediterranean de- scent presents because of fatigue, arthralgias, discomfort in her right upper abdominal quad- rant, and polyuria. Laboratory tests are remark- able for elevated glucose level, elevated biliru- bin, low hemoglobin, elevated reticulocytes, and increased transferrin saturation. Cardiac testing shows moderate restrictive cardiomyop- athy. She frequently has required blood trans- fusions throughout her life. Which hereditary disorder does this patient most likely have? (A) Absence of the hemoglobin a-chain (B) Absence of the hemoglobin b-chain (C) Mutation resulting in increased absorption of dietary iron (D) Mutations in the gene encoding ankyrin (E) Mutations resulting in copper accumula- tion
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