Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review
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DOI: 10.1111/bjh.18485
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)… read more here.
Keywords: erythrocytosis; bpgm variants; bisphosphoglycerate mutase; heterozygosity ... See more keywords