Erythrocytosis associated with a novel missense mutation in the BPGM gene

“…These mutations are extremely rare, and assays for BPMG and 2,3 BPG are now very difficult to get carried out. Recently, a Caucasian who had presented with erythrocytosis at the age of 27 years and had been extensively investigated for other oxygen‐sensing pathway mutations had a novel missense mutation in the BPGM gene with a G268A substitution resulting in the substitution of arginine with histidine at residue 90 (R90H) was identified by whole‐genome sequencing . As this technology comes into widespread use, it is likely that other such mutations may be discovered.…”

Section: Secondary Congenital Erythrocytosismentioning

confidence: 99%

Congenital erythrocytosis

McMullin

2016

Int J Lab Hematology

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Summary Introduction Congenital erythrocytosis is by definition present from birth. Patients frequently present in childhood or as young adults and a family history may be present. The erythrocytosis can be primary where there is a defect in the erythroid compartment of secondary where increased erythropoietin production produced due to the defect leads to an erythrocytosis. Material and methods Primary causes include erythropoietin receptor mutations. Congenital secondary causes include mutations in the genes involved in the oxygen‐sensing pathway and haemoglobins with abnormal oxygen affinity. Investigations for the cause include an erythropoietin level, oxygen dissociation curve, haemoglobin electrophoresis and sequencing for known gene variants. Results The finding of a known or new molecular variant confirms a diagnosis of congenital erythrocytosis. A congenital erythrocytosis may be an incidental finding but nonspecific symptoms are described. Major thromboembolic events have been noted in some cases. Low‐dose aspirin and venesection are therapeutic manoeuvres which should be considered in managing these patients. Conclusions Rare individuals presenting often at a young age may have a congenital erythrocytosis. Molecular investigation may reveal a lesion. However, in the majority, currently no defect is identified.

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“…EGLN1 p.L279P affects a conserved residue, previously reported as altered (p.L279Tfs43, a frameshift variant) in a patient with erythrocytosis. 20 Structurally, this 12 47 …”

Section: Novel Genes and Variants Identified By The Erythrocytosis Gementioning

confidence: 99%

“…8 Some patients, particularly those with polycythemia vera and some forms of genetic erythrocytosis, have increased incidences of both arterial and venous thromboembolic events. 9 Other congenital lesions include high oxygenaffinity hemoglobinopathies or 2,3-bisphosphoglycerate deficiency, [10][11][12] caused by mutations in globin genes (HBA1, HBA2, HBB) or the BPGM gene, respectively. These genes belong to key pathways involved in the pathogenesis of erythrocytosis e.g.…”

Section: Introductionmentioning

confidence: 99%