Genotype–phenotype correlation of hereditary erythrocytosis mutations, a single center experience
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DOI: 10.1002/ajh.25150
Abstract: Hereditary erythrocytosis is associated with high oxygen affinity hemoglobin variants (HOAs), 2,3‐bisphosphoglycerate deficiency and abnormalities in EPOR and the oxygen‐sensing pathway proteins PHD, HIF2α, and VHL. Our laboratory has 40 years of experience with hemoglobin… read more here.
Keywords: genotype phenotype; phenotype correlation; hereditary erythrocytosis; erythrocytosis ... See more keywords
Genetic analysis of 39 erythrocytosis and hereditary hemochromatosis‐associated genes in the Slovenian family with idiopathic erythrocytosis
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DOI: 10.1002/jcla.23715
Abstract: Erythrocytosis is a condition with an excessive number of erythrocytes, accompanied by an elevated haemoglobin and/or haematocrit value. Congenital erythrocytosis has a diverse genetic background with several genes involved in erythropoiesis. In clinical practice, nine… read more here.
Keywords: erythrocytosis; family; erythrocytosis hereditary; analysis erythrocytosis ... See more keywords
Hemolytic erythrocytosis: an amalgamated phenotype from coinherited Chuvash polycythemia and G6PD Kerala-Kalyan with acquired transient stomatocytosis
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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
Diagnosis and management of non-clonal erythrocytosis remains challenging: a single centre clinical experience
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DOI: 10.1007/s00277-021-04546-4
Abstract: Erythrocytosis has a diverse background. While polycythaemia vera has well defined criteria, the diagnostic approach and management of other types of erythrocytosis are more challenging. The aim of study was to retrospectively analyse the aetiology… read more here.
Keywords: clonal erythrocytosis; erythrocytosis; diagnosis management; management non ... See more keywords
Potential limitations of diagnostic standard codes to distinguish polycythemia vera and secondary erythrocytosis
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DOI: 10.1038/s41598-022-08606-1
Abstract: Red cell overproduction is seen in polycythemia vera (PV), a bone marrow myeloproliferative neoplasm characterized by trilinear cell proliferation (WBC, platelets), as well as in secondary erythrocytosis (SE), a group of heterogeneous disorders characterized by… read more here.
Keywords: polycythemia vera; secondary erythrocytosis; polycythemia; icd code ... See more keywords
Secondary erythrocytosis caused by hemoglobin Tak/β0-thalassaemia disease during pregnancy: A case report
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DOI: 10.1080/01443615.2016.1249356
Abstract: High oxygen-affinity haemoglobin (Hb) is a heritable cause of secondary erythrocytosis that is associated with abnormality in haemoglobin oxygen release (McMullin et al. 2005). Increased erythropoietin and RBC production is a consequence of poor oxygen… read more here.
Keywords: tak; oxygen; erythrocytosis caused; erythrocytosis ... See more keywords
Enalaprilat and losartan decrease erythroid precursors frequency in cells from patients with polycythemia vera.
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DOI: 10.1080/16078454.2023.2182056
Abstract: OBJECTIVE Polycythemia Vera (PV) is a myeloproliferative neoplasm characterized by the overproduction of red blood cells. First-line therapies are directed at lowering hematocrit levels. After the discovery of a mutation in the Janus kinase 2… read more here.
Keywords: erythrocytosis; enalaprilat losartan; decrease erythroid; jak2 ... See more keywords
Secondary erythrocytosis
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DOI: 10.1080/17474086.2023.2192475
Abstract: ABSTRACT Introduction Erythrocytosis is associated with an elevation of the hemoglobin level above 16.5 g/dL in men and above 16 g/dL in women and an elevation of the hematocrit level above 49% in men and… read more here.
Keywords: secondary erythrocytosis; hematology; erythrocytosis;
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
Feline primary erythrocytosis: a multicentre case series of 18 cats
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DOI: 10.1177/1098612x17750333
Abstract: Case series summary A retrospective multicentre case series of feline primary erythrocytosis (PE) was evaluated. The aim was to gain better understanding of disease presentation and progression to guide management and prognostication. Case records were… read more here.
Keywords: erythrocytosis; feline primary; case series; case ... See more keywords
Hemochromatosis Gene Mutation in Persons Developing Erythrocytosis on Combined Testosterone and SGLT-2 Inhibitor Therapy
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DOI: 10.1177/23247096221111774
Abstract: In clinical trials, sodium-glucose cotransporter-2 inhibitors (SGLT-2i) use alone in persons with type 2 diabetes (T2D) or testosterone replacement therapy (TRT) prescription alone in men with hypogonadism was shown to lead to a modest but… read more here.
Keywords: erythrocytosis; therapy; hemochromatosis gene; mutation ... See more keywords