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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
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
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

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
de la Chapelle A, Sistonen P, Lehväslaiho H, Ikkala E, Juvonen E
Lancet 1993 Jan 9;341(8837):82-4. doi: 10.1016/0140-6736(93)92558-b. PMID: 8093406

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