학술논문
Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.
Document Type
Article
Author
Source
Subject
*HETEROZYGOSITY
*POLYCYTHEMIA
*ERYTHROCYTES
*LITERATURE reviews
*FUNCTIONAL analysis
*
*
*
*
Language
ISSN
0007-1048
Abstract
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]