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Sickle Cell Case

Background

Sickle cell anemia is a disease of red blood cells. It is caused by a mutation in


the hemoglobin gene. A single base change results in a single amino acid
substitution. This mutation causes the hemoglobin to change its conformation
to a more elongated form under certain conditions, distorting the red blood
cells and impairing their ability to carry oxygen.
Sickle cell anemia is considered a recessive trait, since both chromosomes have
to carry the mutation in order for the full blown disease symptoms to appear.
To detect the sickle cell mutation, a patients DNA is digested with Restriction
enzymes and the digested DNA is examines in an electrophoresis gel. The
presence or absence of the sickle cell mutation can be determined based on the
size of the DNA bands observed in the electrophoresis analysis. This restriction
enzyme cuts the DNA in the normal hemoglobin gene producing a DA band of a
small size that can be detected in the electrophoresis gel. When the sickle cell
mutation is present, the enzyme cannot cut the DNA and the molecular weight
of the DNA band in the electrophoresis gel is bigger.
People who are homozygous for the Sickle Cell mutation are very sick. They
inherit the mutated hemoglobin gene from both parents and produce a single
DNA band with a molecular weight of 600 base pairs in electrophoresis
analysis. People who are homozygous for the normal hemoglobin gene are not
sick because they inherit the normal gene from both parents and produce a
single band with a molecular weight of 300 base pairs. People who are
heterozygous for the Sickle Cell mutation are healthy carriers. They inherit the
mutated gene from one parent and the normal gene from the other and
produce two bands in the electrophoresis analysis. Although Sickle Cell carriers
are not sick, they can either pass the normal hemoglobin gene or the mutated
sickle Cell gene to their children and thus may pass the disease along.

Claudine and Andre Kasonga live in a small community in sub-Sahara Africa,


surrounded by family and friends whose children frequently suffer from malaria
or sickle cell anemia. They themselves have both had siblings succumb to each
of these diseases.
While they both appear to be fine, they are expecting their first child and wish
to know how to prepare themselves. Should they move away from the malariacarrying mosquitoes, or wouldnt it matter?
They got tested and here are their DNA Electrophoresis results:

Sickle Cell Case Questions

Include the following as part of the introduction for your presentation:

What is hemoglobin and why is it important?


How is the hemoglobin in the Sickle Cell disease different from normal hemoglobin?
What is the difference between homozygous (sick) and heterozygous (carriers)
people who inherit the sickle cell mutation?

Questions to be answered at the end:


1. How does the Sickle Cell mutation can protect form infection with the malaria
parasite?
2. After analyzing the electrophoresis test for the Kasonga family, What is the health
status of each one in the family?
3. Are Caudine, Andre or their baby resistant to malaria? Should they be worried about
their baby being sick with Sickle Cell?