Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review
Publication date
2023-01
Authors
van Dijk, Myrthe J
van Oirschot, Brigitte A
Stam-Slob, Manon C.
Waanders, Esme
van der Zwaag, Bert
Van Beers, Eduard J.
Jans, Judith J.M.
van der Linden, Peter Willem
Torregrosa Diaz, Jose M
Gardie, Betty
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Advisors
Supervisors
Document Type
Article
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Abstract
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.
Keywords
Hematology, Journal Article
Citation
van Dijk, M J, van Oirschot, B A, Stam-Slob, M C, Waanders, E, van der Zwaag, B, van Beers, E J, Jans, J J M, van der Linden, P W, Torregrosa Diaz, J M, Gardie, B, Girodon, F, Schots, R, Thielen, N & van Wijk, R 2023, 'Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis : A case series and literature review', British Journal of Haematology, vol. 200, no. 2, pp. 249-255. https://doi.org/10.1111/bjh.18485