Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN: 9780134580999
Author: Elaine N. Marieb, Katja N. Hoehn
Publisher: PEARSON
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Spherocytosis is an inherited blood disease in which
the erythrocytes (red blood cells) are spherical instead
of biconcave. This condition can be inherited in a
dominant fashion, with ANK1 (the nonfunctional mutant allele) dominant to ANK1+. In people with spherocytosis, the spleen recognizes the spherical red
blood cells as defective and removes them from the
bloodstream, leading to anemia. The spleen in different people removes the spherical erythrocytes with
different efficiencies. Some people with spherical
erythrocytes suffer severe anemia and some mild anemia, yet others have spleens that function so poorly no
symptoms of anemia exist at all. When 2400 people
with the genotype ANK1 ANK1+ were examined, it
was found that all of them had spherical erythrocytes,
2250 had anemia of varying severity, and 150 had no
symptoms. (Assume that ANK1 ANK1 homozygotes
do not exist.)
a. Does this description of people with spherocytosis
represent incomplete penetrance, variable expressivity, or both? Explain your answer. Can you derive any values from the numerical data to measure
penetrance or expressivity?
b. Suggest a treatment for spherocytosis and describe
how the incomplete penetrance and/or variable
expressivity of the condition might affect this
treatment.
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