Hemolytic erythrocytosis: an amalgamated phenotype from coinherited Chuvash polycythemia and G6PD Kerala-Kalyan with acquired transient stomatocytosis
Sign Up to like & getrecommendations! Published in 2020 at "Annals of Hematology"
DOI: 10.1007/s00277-020-04295-w
Abstract: Dear Editor, The paradoxical combination of absolute erythrocytosis with hemolysis can occur with few high-affinity hemoglobin variants and rarely with polycythemia vera (PV) [1, 2]. Familial (Chuvash) erythrocytosis-2 (OMIM #263400), a rare autosomal recessive disorder… read more here.
Keywords: g6pd kerala; erythrocytosis; hemolysis; chuvash polycythemia ... See more keywords
Translational repression of HIF2&agr; expression in mice with Chuvash polycythemia reverses polycythemia
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DOI: 10.1172/jci97684
Abstract: Chuvash polycythemia is an inherited disease caused by a homozygous germline VHLR200W mutation, which leads to impaired degradation of HIF2&agr;, elevated levels of serum erythropoietin, and erythrocytosis/polycythemia. This phenotype is recapitulated by a mouse model… read more here.
Keywords: hif2 agr; agr expression; mice; polycythemia ... See more keywords