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
References:
Updated: August 2017