evidence suggests that spherocytosis is incompletely penetrant?

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
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Spherocytosis is an inherited blood disease in which erythrocytes (red blood cells) are spherical instead of biconcave. This condition is 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; this removal occurs with different efficiency in different people.

Some people with spherical erythrocytes suffer severe anemia, some have mild anemia, and others do not have any symptoms of anemia.

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 anemia symptoms. The ANK1/ANK1 genotype is never observed.

Which evidence suggests that spherocytosis is incompletely penetrant?

Expert Solution
Introduction

Spherocytosis is a condition that affects red blood cells. People suffering from spherocytosis experience some diseases, which are as follows: - 

  • Anemia: - Shortage of RBCs in the blood.
  • Jaundice: - Yellowing of the eyes and skin.
  • Splenomegaly: - Enlarged spleen.
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