Hemoglobin San Diego: An Uncommon Cause of Hereditary Erythrocytosis Discovered Incidentally in a Military Trainee. Issue 5 (13th November 2018)

• Record Type: Journal Article
• Authors: Boster, Joshua; Howells, Joseph; Devine, Ryan
• Is Part Of: Military medicine. Volume 184:Issue 5/6(2019)
• Page Start: e486
• Page End: e488
• Publication Date: 2018-11-13
• Subjects: Surgery, Military -- Societies, etc; Medicine, Military -- Societies, etc; Medicine, Military -- Periodicals; Surgery, Military -- Periodicals; Medicine, Military; Surgery, Military; Military Medicine -- Periodicals; Periodicals; Electronic journals; 616.98023
• DOI: 10.1093/milmed/usy295
• Languages: English
• ISSNs: 0026-4075

Abstract

Abstract: High-affinity hemoglobinopathies are a rare clinical entity that commonly presents as an isolated erythrocytosis in asymptomatic individuals. We report such a case involving an 18-year-old active duty military trainee who presented to the hematology clinic after an isolated erythrocytosis was incidentally discovered during a flight physical. The patient was asymptomatic but did report a family history of erythrocytosis in his mother and maternal grandmother which intermittently required venesection. Initial history and physical exam were unremarkable. P50 RBC Oxygen Dissociation showed a left-shifted oxygen dissociation curve, although hemoglobin electrophoresis did not reveal an abnormal hemoglobin variant. A β-globin variant was identified via mass spectrometry and sequencing that was consistent with the rare high-oxygen affinity hemoglobin variant designated hemoglobin San Diego. This patient was medically cleared to return to training without limitations and counseled regarding the potential significance of being a carrier of this rare hemoglobin variant. This case represents the first observation of hemoglobin San Diego in the U.S. military population.