Sickle Cell Disease
You are a third year medical student in the OBGYN –
Preconception Care clinic and your first patient is a
25 year-old female of African American descent with her
husband. They are planning a pregnancy, and they want
to know about sickle cell anemia and other hemoglobin
abnormalities. They would like to know if they can be
tested to determine carrier status, and if they are carriers
what the risks would be for their children. They ask if
prenatal testing exists for this condition. They have
known several people with Sickle cell anemia at their
church and wondered if everyone with the disorder was
affected in the same way?
You complete a three-generation pedigree to describe
the family history and then seek further information
about Sickle Cell disease by using OMIM
– On-Line Mendelian Inheritance in Man.
Go to OMIM:
- Search the OMIM database for: Sickle Cell
Disease
- Look up clinical synopsis, text, genetic defect
and location of Sickle Cell gene.
To ascertain information about genetic testing for
Sickle cell disease you choose an on-line resource (www.genetests.org).
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