High-oxygen-affinity hemoglobinopathy-associated erythrocytosis: Clinical outcomes and impact of therapy in 41 cases.

Abstract

We describe presenting features, treatment strategies, and follow-up events involving 41 patients (median age 39 years, range 1-81; 54% males) with high oxygen affinity (HOA) hemoglobinopathy-associated erythrocytosis, seen at our institution (1973-2020). Thirty-four (83%) patients carried β-chain (13 Malmo, 4 Olympia, 3 San Diego, 2 Wood) and 7 (17%) α-chain (4 Dallas and one each Columbia-Missouri, Jackson, and Wayne) variants. Median (range) hemoglobin (Hgb)/hematocrit (Hct), serum erythropoietin and p50 were 18 g/dL/52.9% (16-21.9/48-66), 10.4 mIU (4-36.3), and 20 mmHg (12-25), respectively. Family history was documented in 24 patients and history of thrombosis in two (5%). Treatment included phlebotomy in 23 and antiplatelet therapy in 21 patients. At a median follow-up of 10 years, 23 (56%) patients reported one or more symptoms that were thought to be related to their increased Hct while thrombosis was documented in 10 (24%) patients. Neither Hgb/Hct level nor active phlebotomy showed a significant correlation with either thrombotic or nonthrombotic symptoms (p > .1 in all instances). Among 23 pregnancies recorded, 78% resulted in live births and no fetal loss was attributed to erythrocytosis. The current study does not implicate Hgb/Hct level as a major contributor of morbidity in HOA hemoglobinopathy-associated erythrocytosis and suggests limited therapeutic value for phlebotomy.

• Authors: Naseema Gangat, Jennifer L Oliveira, James D Hoyer, Mrinal M Patnaik, Animesh Pardanani, Ayalew Tefferi
• Journal: American journal of hematology (Am J Hematol) Vol. 96 Issue 12 Pg. 1647-1654 (12 01 2021) ISSN: 1096-8652 [Electronic] United States
• PMID: 34633117 (Publication Type: Journal Article)
• Copyright: © 2021 Wiley Periodicals LLC.

Chemical References

• Platelet Aggregation Inhibitors
• Oxygen

Topics

• Adult
• Aged
• Aged, 80 and over
• Child
• Disease Management
• Female
• Hemoglobinopathies (blood, complications, therapy)
• Humans
• Infant
• Male
• Middle Aged
• Oxygen (blood)
• Phlebotomy
• Platelet Aggregation Inhibitors (therapeutic use)
• Polycythemia (blood, etiology, therapy)
• Retrospective Studies
• Young Adult