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2008 National DNA Day Online Chatroom Transcript

This is just one question from an archive of the National DNA Day Moderated Chat held in April 2008. The NHGRI Director and many genomics experts from across NHGRI took questions from students, teachers and the general public on topics ranging from basic genomic research, to the genetic basis of disease, to ethical questions about genetic privacy.

What is methemoglobinemia? Are there really blue people?
     William Gahl, M.D.: Studying rare inborn errors of metabolism through the observation and treatment of patients in the clinic and through biochemical, molecular biological, and cell biological investigations in the laboratory. His lab focuses on a number of disorders, including cystinosis, Hermansky-Pudlak syndrome, alkaptonuria, and sialic acid diseases. Hemoglobin is the protein in our blood that carries oxygen to the tissues of our body. Methemoglobin is hemoglobin that has bound a different molecule, like a drug, rather than oxygen. This can occur due to a genetic defect in the metabolism of hemoglobin. Indeed, methemoglobin is blue colored, and humans with this genetic defect can appear slightly blue.
McDowell High School in PA (10th grade student)

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