Jonathan Alverio: How Often Does Hemoglobin Mutation Make It onto Your Differential for Erythrocytosis?
Jonathan Alverio, Clinical Trainee at Detroit Medical Center, shared on LinkedIn:
”How often does Hemoglobin mutation make it onto your differential for erythrocytosis?
For most clinicians, almost never.
I had the opportunity to present a rare case at the ACP Michigan Chapter Resident and Medical Student Day 2026 in Troy MI, focusing on Hemoglobin Syracuse, a high-affinity hemoglobin variant that can be easily missed in patients with persistent erythrocytosis.
This variant shifts the oxygen‑dissociation curve left, reducing tissue oxygen delivery.
The body responds by increasing hemoglobin and hematocrit levels, the same compensatory mechanism we see in chronic smokers and COPD, where erythrocytosis is a physiologic attempt to maintain oxygen delivery.
Three clinical pearls from the case:
- Think high‑affinity hemoglobinopathy when erythrocytosis plus family history appear together.
- Order a P50 (arterial blood gas), this is the key diagnostic test.
- Avoid phlebotomy because in these patients, the elevated RBC mass is compensatory and removing it worsens oxygen delivery.
Grateful for the opportunity to share this case and learn from colleagues across the state.”
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