التفاصيل البيبلوغرافية
| العنوان: |
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review. |
| المؤلفون: |
van Dijk, Myrthe J.1,2 (AUTHOR), van Oirschot, Brigitte A.1 (AUTHOR), Stam‐Slob, Manon C.2 (AUTHOR), Waanders, Esmé3 (AUTHOR), van der Zwaag, Bert3 (AUTHOR), van Beers, Eduard J.2 (AUTHOR), Jans, Judith J. M.4 (AUTHOR), van der Linden, Peter Willem5 (AUTHOR), Torregrosa Diaz, Jose M.6 (AUTHOR), Gardie, Betty7,8,9 (AUTHOR), Girodon, François9,10,11 (AUTHOR), Schots, Rik12 (AUTHOR), Thielen, Noortje13 (AUTHOR), van Wijk, Richard1 (AUTHOR) r.vanwijk@umcutrecht.nl |
| المصدر: |
British Journal of Haematology. Jan2023, Vol. 200 Issue 2, p249-255. 7p. |
| مصطلحات موضوعية: |
*HETEROZYGOSITY, *POLYCYTHEMIA, *ERYTHROCYTES, *LITERATURE reviews, *FUNCTIONAL analysis |
| مستخلص: |
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. [ABSTRACT FROM AUTHOR] |
| قاعدة البيانات: |
Academic Search Index |
