Literature DB >> 19734427

Identification of high oxygen affinity hemoglobin variants in the investigation of patients with erythrocytosis.

Melanie J Percy, Nauman N Butt, Gerard M Crotty, Mark W Drummond, Claire Harrison, Gail L Jones, Matthew Turner, Jonathan Wallis, Mary Frances McMullin.   

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Year:  2009        PMID： 19734427      PMCID： PMC2738729          DOI： 10.3324/haematol.2009.008037

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  11 in total

1.  Haemoglobin Pierre-Benite--a high affinity variant associated with relative polycythaemia.

Authors:  M E Beard; H C Potter; R L Spearing; S O Brennan
Journal:  Clin Lab Haematol       Date:  2001-12

2.  Three new hemoglobin variants with abnormal oxygen affinity: Hb Saratoga Springs [alpha40(C5)Lys --> Asn (alpha1)], Hb Santa Clara [beta97(FG4)His --> Asn], and Hb Sparta [beta103(G5)Phe --> Val].

Authors:  James D Hoyer; John Weinhold; Elisabeth Mailhot; David Alter; Daniel J McCormick; Karen Snow; Kathleen S Kubik; Michael W Holmes; Virgil F Fairbanks
Journal:  Hemoglobin       Date:  2003-11       Impact factor: 0.849

Review 3.  Hemoglobins with high oxygen affinity leading to erythrocytosis. New variants and new concepts.

Authors:  Henri Wajcman; Frederic Galactéros
Journal:  Hemoglobin       Date:  2005       Impact factor: 0.849

4.  Familial erythrocytosis: molecular links to red blood cell control.

Authors:  Melanie J Percy; Frank S Lee
Journal:  Haematologica       Date:  2008-07       Impact factor: 9.941

5.  Hemoglobin Pierre-Bénite [beta 90(F6)Glu----Asp], a new high affinity variant found in a French family.

Authors:  F Baklouti; Y Giraud; A Francina; G Richard; J Favre-Gilly; J Delaunay
Journal:  Hemoglobin       Date:  1988       Impact factor: 0.849

6.  Chuvash-type congenital polycythemia in 4 families of Asian and Western European ancestry.

Authors:  Melanie J Percy; Mary Frances McMullin; Simon N Jowitt; Michael Potter; Marilyn Treacy; William H Watson; Terence R J Lappin
Journal:  Blood       Date:  2003-04-17       Impact factor: 22.113

7.  Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia.

Authors:  Neeraj Agarwal; Mariluz P Mojica-Henshaw; Elizabeth D Simmons; Dottie Hussey; Ching N Ou; Josef T Prchal
Journal:  Int J Med Sci       Date:  2007-10-04       Impact factor: 3.738

8.  Familial polycythaemia caused by a new haemoglobin variant: Hb Heathrow, beta 103 (G5) phenylalanine leads to leucine.

Authors:  J M White; L Szur; I D Gillies; P A Lorkin; H Lehmann
Journal:  Br Med J       Date:  1973-09-29

9.  Blood p50 evaluation enhances diagnostic definition of isolated erythrocytosis.

Authors:  E Rumi; F Passamonti; L Pagano; M Ammirabile; L Arcaini; C Elena; A Flagiello; R Tedesco; C Vercellati; A P Marcello; D Pietra; R Moratti; M Cazzola; M Lazzarino
Journal:  J Intern Med       Date:  2008-09-10       Impact factor: 8.989

10.  Self-association of haemoglobin Olympia (alpha 2 beta 2 20 (B2) Val----Met). A human haemoglobin bearing a substitution at the surface of the molecule.

Authors:  S J Edelstein; C Poyart; Y Blouquit; J Kister
Journal:  J Mol Biol       Date:  1986-01-20       Impact factor: 5.469
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  10 in total

1.  Clinical utility gene card for: familial erythrocytosis.

Authors:  Kais Hussein; Melanie Percy; Mary Frances McMullin
Journal:  Eur J Hum Genet       Date:  2012-01-25       Impact factor: 4.246

2.  Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.

Authors:  Mary Frances McMullin
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2019-12-06

Review 3.  Genetic Background of Congenital Erythrocytosis.

Authors:  Mary Frances McMullin
Journal:  Genes (Basel)       Date:  2021-07-28       Impact factor: 4.096

4.  Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.

Authors:  Carme Camps; Nayia Petousi; Celeste Bento; Holger Cario; Richard R Copley; Mary Frances McMullin; Richard van Wijk; Peter J Ratcliffe; Peter A Robbins; Jenny C Taylor
Journal:  Haematologica       Date:  2016-09-20       Impact factor: 9.941

5.  Diagnosis and management of congenital and idiopathic erythrocytosis.

Authors:  Mary Frances McMullin
Journal:  Ther Adv Hematol       Date:  2012-12

6.  Genetically based low oxygen affinities of felid hemoglobins: lack of biochemical adaptation to high-altitude hypoxia in the snow leopard.

Authors:  Jan E Janecka; Simone S E Nielsen; Sidsel D Andersen; Federico G Hoffmann; Roy E Weber; Trevor Anderson; Jay F Storz; Angela Fago
Journal:  J Exp Biol       Date:  2015-08       Impact factor: 3.312

7.  Heterozygous Hemoglobin Sherwood Forest Causing Polycythemia.

Authors:  Vikram M Raghunathan; James N Butera; Diana O Treaba
Journal:  Case Rep Hematol       Date:  2017-09-28

8.  Haemoglobinopathia Ypsilanti - A rare, but important differential diagnosis to polycythaemia vera.

Authors:  Marietta Nygaard; Jesper Petersen; Ole W Bjerrum
Journal:  Leuk Res Rep       Date:  2013-10-09

9.  Raised HIF1α during normoxia in high altitude pulmonary edema susceptible non-mountaineers.

Authors:  Poonam Soree; Rajinder K Gupta; Krishan Singh; Koundinya Desiraju; Anurag Agrawal; Praveen Vats; Abhishek Bharadwaj; T P Baburaj; Pooja Chaudhary; Vijay K Singh; Saroj Verma; Amir Chand Bajaj; Shashi Bala Singh
Journal:  Sci Rep       Date:  2016-05-23       Impact factor: 4.379

10.  Hemoglobin Sunshine Seth: A Case Report of Low-Oxygen-Affinity Hemoglobinopathy.

Authors:  Leah S Heidenreich; Jennifer L Oliveira; Peter J Holmberg; Vilmarie Rodriguez
Journal:  Case Rep Pediatr       Date:  2020-02-10
  10 in total

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