2018
DOI: 10.1002/ajh.25150
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Genotype–phenotype correlation of hereditary erythrocytosis mutations, a single center experience

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 disorder testing and we have characterized HOAs using varied protein and molecular techniques including functional assessment by p50 analysis. In addition, we have more recently commenced adding the assessment of clinically relevant regions … Show more

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Cited by 38 publications
(59 citation statements)
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“…A recent collation of the reported methemoglobin reductase deficiency cases (congenital recessive methemoglobinemia) in literature showed 50% (five of 10 available for review) of patients had hemoglobin levels elevated for age (Hgb levels of 17‐19 g/dL) in three adults with type I disease and two children with Hgb of 14, (one with type I and one with type II) . M‐hemoglobin variants, which have been described in alpha, beta, and gamma chains, also have variable associations with erythrocytosis with elevated hemoglobin levels (16.9 and 17.5 g/dL) in only 2 (of 16) cases …”
Section: Increased Hemoglobin Oxygen Affinitymentioning
confidence: 93%
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“…A recent collation of the reported methemoglobin reductase deficiency cases (congenital recessive methemoglobinemia) in literature showed 50% (five of 10 available for review) of patients had hemoglobin levels elevated for age (Hgb levels of 17‐19 g/dL) in three adults with type I disease and two children with Hgb of 14, (one with type I and one with type II) . M‐hemoglobin variants, which have been described in alpha, beta, and gamma chains, also have variable associations with erythrocytosis with elevated hemoglobin levels (16.9 and 17.5 g/dL) in only 2 (of 16) cases …”
Section: Increased Hemoglobin Oxygen Affinitymentioning
confidence: 93%
“…Two screening methods for hemoglobin variants were negative (HPLC and CE), and the variant was detected by mass spectrometry and a borderline decreased p50 (23 mm Hg). JAK2 assessment has been recommended to be used less prominently in pediatric populations due to the rarity of polycythemia vera in persons less than 20 years of age EPOR ‐associated HE is almost always associated with decreased Epo levels and normal p50 results, although rare cases show mildly decreased p50 (22 mm Hg) Because LNK mutations are more commonly associated with acquired myeloproliferative neoplasms, although reported in HE cases, the role remains to be fully elucidated …”
Section: Erythropoietin Receptor Signaling Pathwaymentioning
confidence: 99%
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