Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review. (30th September 2022)

• Record Type: Journal Article
• Authors: van Dijk, Myrthe J.; van Oirschot, Brigitte A.; Stam‐Slob, Manon C.; Waanders, Esmé; van der Zwaag, Bert; van Beers, Eduard J.; Jans, Judith J. M.; van der Linden, Peter Willem; Torregrosa Diaz, Jose M.; Gardie, Betty; Girodon, François; Schots, Rik; Thielen, Noortje; van Wijk, Richard
• Is Part Of: British journal of haematology. Volume 200:Number 2(2023)
• Page Start: 249
• Page End: 255
• Publication Date: 2022-09-30
• Subjects: Hematology -- Periodicals; Blood -- Diseases -- Periodicals; 616.15
• DOI: 10.1111/bjh.18485
• Languages: English
• ISSNs: 0007-1048

Abstract

Summary: Erythrocytosis is associated with increased red blood cell mass and can be either congenital or acquired. Congenital secondary causes are rare and include germline variants increasing haemoglobin (Hb)‐oxygen affinity (e.g., Hb or bisphosphoglycerate mutase ( BPGM ) variants) or affecting oxygen‐sensing pathway proteins. Here, we describe five adults from three kindreds with erythrocytosis associated with heterozygosity for BPGM variants, including one novel. Functional analyses showed partial BPGM deficiency, reduced 2, 3‐bisphosphoglycerate levels and/or increased Hb‐oxygen affinity. We also review currently known BPGM variants. This study contributes to raising awareness of BPGM variants, and in particular that heterozygosity for BPGM deficiency may already manifest clinically.