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

doi:10.1111/bjh.18485

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

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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.

Original language	English
Pages (from-to)	249-255
Number of pages	7
Journal	British Journal of Haematology
Volume	200
Issue number	2
Early online date	30 Sept 2022
DOIs	https://doi.org/10.1111/bjh.18485
Publication status	Published - Jan 2023

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10.1111/bjh.18485Licence: CC BY-NC-ND

Br J Haematol - 2022 - Dijk - Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenitalFinal published version, 412 KBLicence: CC BY-NC-ND

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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, 200(2), 249-255. https://doi.org/10.1111/bjh.18485

@article{7bb96048b67a4592b6966f5af7f402fe,

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

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.",

author = "{van Dijk}, {Myrthe J} and {van Oirschot}, {Brigitte A} and Stam-Slob, {Manon C} and Esm{\'e} Waanders and {van der Zwaag}, Bert and {van Beers}, {Eduard J} and Jans, {Judith J M} and {van der Linden}, {Peter Willem} and {Torregrosa Diaz}, {Jose M} and Betty Gardie and Fran{\c c}ois Girodon and Rik Schots and Noortje Thielen and {van Wijk}, Richard",

note = "Funding Information: The authors would like to thank the patients and their family members for the collaboration. We also wish to thank S. de Maat for his help on evaluating the structural consequences of the novel p.(Arg179Cys) variant in BPGM. Publisher Copyright: {\textcopyright} 2022 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.",

year = "2023",

month = jan,

doi = "10.1111/bjh.18485",

language = "English",

volume = "200",

pages = "249--255",

journal = "British Journal of Haematology",

issn = "0007-1048",

publisher = "Wiley-Blackwell",

number = "2",

}

van Dijk, MJ, van Oirschot, BA, Stam-Slob, MC, Waanders, E , van der Zwaag, B , van Beers, EJ , Jans, JJM, van der Linden, PW, Torregrosa Diaz, JM, 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

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 - Funding Information: The authors would like to thank the patients and their family members for the collaboration. We also wish to thank S. de Maat for his help on evaluating the structural consequences of the novel p.(Arg179Cys) variant in BPGM. Publisher Copyright: © 2022 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.

PY - 2023/1

Y1 - 2023/1

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.

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U2 - 10.1111/bjh.18485

DO - 10.1111/bjh.18485

M3 - Review article

C2 - 36177683

SN - 0007-1048

VL - 200

SP - 249

EP - 255

JO - British Journal of Haematology

JF - British Journal of Haematology

IS - 2

ER -

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

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