Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review

Myrthe J. van Dijk, Brigitte A. van Oirschot, Manon C. Stam-Slob, Esmé Waanders, Bert van der Zwaag, Eduard J. van Beers, Judith J.M. Jans, Peter Willem van der Linden, Jose M. Torregrosa Diaz, Betty Gardie, François Girodon, Rik Schots, Noortje Thielen, Richard van Wijk

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

Samenvatting

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.

Originele taal-2Engels
TijdschriftBritish Journal of Haematology
DOI's
StatusGeaccepteerd/In druk - 2022
Extern gepubliceerdJa

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