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Lecture 4

BIOLOGY 1A03 Lecture Notes - Lecture 4: Sickle-Cell Disease, Anemia, Point Mutation

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Dr.Da Silva

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Sickle cell anaemia Factsheet
Base substitution mutation - where a nucleotide is substituted for a different one
Sickle cell anaemia
Sickle cell anaemia is a genetic disease that affects red blood cells in the body. It is due to a
mutation on the Hb gene which codes for a polypeptide of 146 amino acids which is part of
haemoglobin (haemoglobin is an important protein component in red blood cells)
the codon GAG found in the normal Hb gene is mutated to GTG
GUG and GAG bind with CAC and CUC
This is a problem because they code for different amino acids
This mutation causes the red blood cells in an individual to turn from donut shaped to sickle
Provides resistance to malaria
Red blood cells carry less oxygen than they normally would. This causes the individual to feel
constantly tired
The sickle cells may accumulate in the capillaries and form clots, blocking blood supply to vital
organs and causing a myriad of health problems
Also causes anaemia (low RBC count), as the sickle cells are destroyed more rapidly than normal
red blood cells
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