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Familial erythrocytosis

MedGen UID:
57520
Concept ID:
C0152264
Disease or Syndrome
Synonym: Familial polycythemia
SNOMED CT: Hereditary pure erythrocytosis (17342003); Familial polycythemia (17342003); Familial erythrocytosis (17342003)
 
Related genes: EGLN1, SH2B3, VHL, JAK2, EPOR, EPAS1
 
Monarch Initiative: MONDO:0001115
OMIM® Phenotypic series: PS133100

Definition

Polycythemia that occurs in groups of related individuals. [from NCI]

Professional guidelines

PubMed

Khaire NS, Jamwal M, Sharma P, Hira JK, Chhabra S, Malhotra P, Das R
Int J Lab Hematol 2022 Aug;44(4):e164-e167. Epub 2022 Mar 9 doi: 10.1111/ijlh.13821. PMID: 35266307
Hussein K, Percy M, McMullin MF
Eur J Hum Genet 2012 May;20(5) Epub 2012 Jan 25 doi: 10.1038/ejhg.2011.252. PMID: 22274579Free PMC Article

Recent clinical studies

Etiology

Maaziz N, Garrec C, Airaud F, Bobée V, Contentin N, Cayssials E, Rimbert A, Aral B, Bézieau S, Gardie B, Girodon F
Genes (Basel) 2023 May 11;14(5) doi: 10.3390/genes14051066. PMID: 37239426Free PMC Article
Núñez-Martínez PM, Taja-Chayeb L, Ramírez-Otero MA, Fragoso-Ontiveros V, Wegman-Ostrosky T, Cruz-Robles D, Vidal Millán S
Bol Med Hosp Infant Mex 2021 May 3;78(4):341-345. doi: 10.24875/BMHIM.20000129. PMID: 33938902
Gašperšič J, Kristan A, Kunej T, Zupan IP, Debeljak N
Blood Transfus 2021 Nov;19(6):518-532. Epub 2020 Dec 16 doi: 10.2450/2020.0197-20. PMID: 33370224Free PMC Article
Randi ML, Bertozzi I, Cosi E, Santarossa C, Peroni E, Fabris F
Ann Hematol 2016 Jan;95(2):233-7. Epub 2015 Nov 7 doi: 10.1007/s00277-015-2548-z. PMID: 26547864
Prchal JT, Sokol L
Eur J Haematol 1996 Oct;57(4):263-8. PMID: 8982288

Diagnosis

Maaziz N, Garrec C, Airaud F, Bobée V, Contentin N, Cayssials E, Rimbert A, Aral B, Bézieau S, Gardie B, Girodon F
Genes (Basel) 2023 May 11;14(5) doi: 10.3390/genes14051066. PMID: 37239426Free PMC Article
Gašperšič J, Kristan A, Kunej T, Zupan IP, Debeljak N
Blood Transfus 2021 Nov;19(6):518-532. Epub 2020 Dec 16 doi: 10.2450/2020.0197-20. PMID: 33370224Free PMC Article
Kristan A, Debeljak N, Kunej T
Eur J Haematol 2019 Oct;103(4):287-299. Epub 2019 Aug 23 doi: 10.1111/ejh.13304. PMID: 31376207
Prchal JT, Sokol L
Eur J Haematol 1996 Oct;57(4):263-8. PMID: 8982288
Kontras SB, Romshe C
Am J Dis Child 1967 Apr;113(4):473-6. doi: 10.1001/archpedi.1967.02090190119014. PMID: 6023479

Therapy

Semenza GL
Annu Rev Med 2023 Jan 27;74:307-319. Epub 2022 Jun 30 doi: 10.1146/annurev-med-042921-102602. PMID: 35773226
Najfeld V, Price TH, Adamson JW, Fialkow PJ
Am J Hematol 1978;5(1):63-9. doi: 10.1002/ajh.2830050109. PMID: 747183

Prognosis

Alaikov T, Ivanova M, Shivarov V
Hematology 2016 Dec;21(10):619-622. Epub 2016 Jun 13 doi: 10.1080/10245332.2016.1192394. PMID: 27292716
Randi ML, Bertozzi I, Cosi E, Santarossa C, Peroni E, Fabris F
Ann Hematol 2016 Jan;95(2):233-7. Epub 2015 Nov 7 doi: 10.1007/s00277-015-2548-z. PMID: 26547864
Oellrich A; Sanger Mouse Genetics Project, Smedley D
Database (Oxford) 2014;2014:bau017. Epub 2014 Mar 13 doi: 10.1093/database/bau017. PMID: 24634472Free PMC Article
Gassas A, Doyle JJ, Weitzman S, Freedman MH, Hitzler JK, Sharathkumar A, Dror Y
J Pediatr Hematol Oncol 2005 Apr;27(4):192-6. doi: 10.1097/01.mph.0000159934.35079.b5. PMID: 15838389
Prchal JT, Sokol L
Eur J Haematol 1996 Oct;57(4):263-8. PMID: 8982288

Clinical prediction guides

Maaziz N, Garrec C, Airaud F, Bobée V, Contentin N, Cayssials E, Rimbert A, Aral B, Bézieau S, Gardie B, Girodon F
Genes (Basel) 2023 May 11;14(5) doi: 10.3390/genes14051066. PMID: 37239426Free PMC Article
Yesilaltay A, Degirmenci H, Bilgen T, Sirin DY, Bayir D, Degirmenci P, Tekinalp A, Alpsoy S, Okuturlar Y, Turgut B
Medicine (Baltimore) 2022 Aug 12;101(32):e29881. doi: 10.1097/MD.0000000000029881. PMID: 35960118Free PMC Article
Zmajkovic J, Lundberg P, Nienhold R, Torgersen ML, Sundan A, Waage A, Skoda RC
N Engl J Med 2018 Mar 8;378(10):924-930. doi: 10.1056/NEJMoa1709064. PMID: 29514032
Oellrich A; Sanger Mouse Genetics Project, Smedley D
Database (Oxford) 2014;2014:bau017. Epub 2014 Mar 13 doi: 10.1093/database/bau017. PMID: 24634472Free PMC Article
McDonough MA, Li V, Flashman E, Chowdhury R, Mohr C, Liénard BM, Zondlo J, Oldham NJ, Clifton IJ, Lewis J, McNeill LA, Kurzeja RJ, Hewitson KS, Yang E, Jordan S, Syed RS, Schofield CJ
Proc Natl Acad Sci U S A 2006 Jun 27;103(26):9814-9. Epub 2006 Jun 16 doi: 10.1073/pnas.0601283103. PMID: 16782814Free PMC Article

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