Thrombosis in individuals with high oxygen affinity hemoglobin‐associated erythrocytosis: A systematic review and analysis of a national cohort
Year: 2026
Type: review
Study design: Systematic Review
Abstract: High-oxygen-affinity hemoglobins (HOAH) are rare conditions, yet one of the most prevalent causes of constitutional erythrocytosis (CE). 1 In some individuals, the impairment of oxygen delivery to tissues leads to secondary erythrocytosis, 2 although most are asymptomatic.3 Nonetheless, thrombosis and hyperviscosity-related symptoms can occur with an unknown incidence.As most data derive from individual and small case series, there is no consensus on optimal therapeutic management, and it is unclear whether antithrombotic prophylaxis and phlebotomies to reduce hematocrit can be useful, as it has been shown in patients with polycythemia vera (PV).[4][5][6][7] To better understand variables associated with thrombosis and hyperviscosity-related symptoms in individuals with HOAH, we conducted a systematic review of the literature and analyzed a retrospective multicentric cohort as validation.To conduct this review, we led a systematic search of the PubMed database with terms "hemoglobin," "variant," "high affinity," "oxygen," and "erythrocytosis."A PubMed search with all HOAH variants described in the HbVar database was also conducted.Two reviewers (M.L. and C.O.) independently screened all identified studies.The second part of the study focused on individuals with HOAH variants at 16 French institutions.All individuals were informed, and non-opposition to data collection was obtained.The study was approved by an institutional Research Ethics board (Angers University Hospital, #2022-146).Data collection and statistical analyses are described in Supplementary Methods.The systematic search identified 780 publications, of which 552 were assessed for eligibility after duplicate removal.After review, 319 publications not fulfilling inclusion criteria were excluded (Supporting Information S1: Figure S1).For this analysis, we ultimately included 233 publications reaching all our inclusion criteria (Supporting Information S1: Table S1), reporting on a total of 665 individuals.Patient characteristics are detailed in Supporting Information S1: Table S2.At diagnosis, 47 thrombotic events were observed in 37 patients (6.8%) with available clinical data (N = 548), including 28 venous and 19 arterial thrombotic events (Supporting Information S1: Table S3).Patients with thrombosis were older (53 vs. 32 years, P < 0.001) andHemaSphere.
Source: HemaSphere
DOI: 10.1002/hem3.70469
Authors: Marie Laloi, Nada Maaziz, Victor Bobée, Philippe Joly, Muriel Giansily‐Blaizot, Mathieu Carpentier, Marie‐Pierre Gourin, Sébastien Trouillier, Claire Barro, Charles Dumontet, Clémence Santana, Matthieu Wemeau, Mathilde Hunault, Damien Luque‐Paz, Serge Pissard, Frédéric Galactéros, François Girodon, Patricia Aguilar‐Martinez, Loïc Garcon, Corentin Orvain
Institutions: Centre Hospitalier Universitaire d'Angers, CHU Dijon Bourgogne, Centre Hospitalier Universitaire de Rouen, Centre Henri Becquerel, Hospices Civils de Lyon, Centre Hospitalier Universitaire de Montpellier, Centre Hospitalier Universitaire de Limoges, Centre Hospitalier Universitaire de Grenoble, Centre Hospitalier de Valence, Centre Hospitalier de Roubaix, Centre National de la Recherche Scientifique, Inserm, Centre de Recherche en Cancérologie et Immunologie Intégrée Nantes Angers, Université d'Angers, Nantes Université, Hôpitaux Universitaires Henri-Mondor, Institut Mondor de Recherche Biomédicale, Centre Hospitalier Universitaire Henri-Mondor, Centre Hospitalier Universitaire Amiens-Picardie
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $2,480
OpenAlex ID: W7211999158