Hemoglobin Venusberg

Very rare. Abnormality of hemoglobin due to a mutation in the HBB gene that results in the replacement of leucine by phenylalanine in position 68 on the  ß chain of hemoglobin. This mutation causes a decrease in the affinity of hemoglobin for oxygen: P50 at 39 mmHg versus 26 mmHg for normal hemoglobin. Patients present with cyanosis during exercice and sometimes a significant desaturation during sleep.


Anesthetic implications

increased risk for desaturation, fast desaturation


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Updated: August 2017