TY - JOUR
T1 - Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis
T2 - A case series and literature review
AU - van Dijk, Myrthe J.
AU - van Oirschot, Brigitte A.
AU - Stam-Slob, Manon C.
AU - Waanders, Esmé
AU - van der Zwaag, Bert
AU - van Beers, Eduard J.
AU - Jans, Judith J.M.
AU - van der Linden, Peter Willem
AU - Torregrosa Diaz, Jose M.
AU - Gardie, Betty
AU - Girodon, François
AU - Schots, Rik
AU - Thielen, Noortje
AU - van Wijk, Richard
N1 - Publisher Copyright:
© 2022 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.
PY - 2022
Y1 - 2022
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85138879681&partnerID=8YFLogxK
UR - https://www.mendeley.com/catalogue/d583a107-3893-33ee-820a-589e01cdad67/
U2 - 10.1111/bjh.18485
DO - 10.1111/bjh.18485
M3 - Article
AN - SCOPUS:85138879681
SN - 0007-1048
JO - British Journal of Haematology
JF - British Journal of Haematology
ER -