Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review
Sign Up to like & getrecommendations! Published in 2022 at "British Journal of Haematology"
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
Sickle Cell Disease Model Mice Lacking 2,3-Dpg Show Reduced RBC Sickling and Improvements in Markers of Hemolytic Anemia
Sign Up to like & getrecommendations! Published in 2020 at "Blood"
DOI: 10.1182/blood-2020-142052
Abstract: Sickle cell disease (SCD) is a severe genetic disorder caused by a mutation in hemoglobin (b6Glu-Val), which allows the mutant hemoglobin to assemble into long polymers when deoxygenated. Over time, these polymers build up and… read more here.
Keywords: bpgm; rbc sickling; townes mice; hemolytic anemia ... See more keywords