Very rare. Abnormality of hemoglobin due to a mutation that causes the replacement of tyrosine by aspartic acid in position 99 on the ß chain of hemoglobin. This mutation increases the affinity of hemoglobin for oxygen: the result is chronic tissue hypoxia and secondary polycythemia.

The symptomatology is variable because patients are usually heterozygous: polycythemia frequently associated to iron deficiency.

Differential diagnosis: polycythemia vera that needs a different treatment (phlebotomies, chemotherapy, urea...)

Anesthetic implications: 

polycythemia

References:

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Updated: August 2017