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)
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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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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