| G6PD Deficiency
You are an Army officer during the Korean War,
and are in charge of a group of soldiers preparing to
deploy from Fort Dix, New Jersey. In anticipation of
deployment to an area endemic for Malaria, all of your
soldiers were given the medication primaquine for antimalarial
prophylaxis. Approximately 10% of black servicemen developed
an acute but self-limited anemia due to hemplysis of
red blood cells. A smaller number of white soldiers
of Mediteranean origin developed a similar but more
severe hemolytic anemia.
The basis for this drug-induced hemolytic anemia was
found to be a genetically determined deficiency of the
nezyme glucose-6-phosphate dehydrogenase (G6PD).
Go to OMIM:
- Search the OMIM database for: G6PD
- Look up clinical synopsis, text, genetic defect
and location of G6PD gene.
Then return, and try to answer the following questions:
- Where is the G6PD gene located?
- Why does deficiency of the G6PD gene lead to hemolytic
anemia?
- What is the hexose monophosphate shunt and how is
it related to this disorder?
- How would you test for this disorder in the population?
Answers |
