Anales de la RANM

43 A N A L E S R A N M R E V I S T A F U N D A D A E N 1 8 7 9 DIAGNÓSTICO DIFERENCIAL DE LAS ERITROCITOSIS Ana Villegas An RANM · Año 2020 · número 137 (01) · páginas 35 a 43 11. Kaelin WG, Ratcliffe PJ. Oxygen sensing by me- tazoans the central role of the HIF dydroxylase pathway. Mol Cell 2008; 30: 393-402. 12. Jiang BH, Rue E, Wang GL, Rose R, Semenza GL. Dimerization, DNA binding and transactivation propieties of hipoxia-inductible factor 1. J Biol Chem 1996; 271: 17771-17778. 13. Kaelin WG. Proline hydroxylation and gene expre- sión. Annu, Rev Biochem 2005; 74: 115-118. 14. Percy MJ, Zhan Q, Flores A et al. A family with erythrocytosis establishes a role for prolyl hydro- xglase domain protein 2 in oxygen homeostasis. Proc Natl Acad Sci USA 2006; 103: 654-659. 15. Franke K, Gassmann M, Wieloclx B. Erythrocyto- sis: The HIF patway in control. Blood 2013; 122(7): 1122-1128. 16. Semenza GL, Nejfelt MK, Chi SM, Antonarakis SE. Hypoxia-inductible nuclear factors bind to an enhan- cer element locate 3’ to the human erythropoietin gene. Proc Natl Acad Sci USA 1991; 88: 5680-5684. 17. Semenza GL. Defining the role of hipoxia-inducti- ble factor 1 in cáncer biology and therapeutics. On- cogene 2010; 29: 625-634. 18. González Fernández FA, Villegas A, Ropero P et al. Haemoglobinopathies with high oxygen affinity. Es- perience of Erythropathology Cooperative Spanish Group. Ann Hematol 2009; 88: 325-328. 19. Bento C, Percy MJ, Gardie B et al: On behalf of ECE- Consortium. Genetic basis of congenital erythro- cytosis: mutation update on line databases Hum Mutat 2014; 35: 15-26. 20. Barbui T, Tefferi A, Vannuchi AM et al. Philadelphia chromosome-negative classical myeloproliferati- ve neoplasms: revised management recommenda- tions fron European Leukemia Net. Leukemia 2018; 32(3): 1057-1069. 21. Lee FS, Percy MJ. The HIF pathway and erythro- cytosis. Annu Rev Pathol 2011; 6: 165-192. 22. Cario H, Schwartz R, Jorch N. Mutations in the von Hippel-Lindau (VHL) tumor suppressor gene and VHL-haplotype analysis in patients with presuma- ble congenital erythrocytosis. Haematologica 2005; 90(1): 19-24. 23. Cario H, McMullin F, Bento C et al. Erythrocytosis in children and adolescents: classification, charac- terization and consensus recommendations for the diagnostic approach. Pediatr. Blood Cáncer 2013; 60(11): 1734-1738. 24. Percy MJ, Furlow PW, Lucas GS et al. A gain of function mutation in the HIF2α gene in familial erythrocytosis. N Engl J Med 2008; 358(2): 162-168. 25. Charache S, Weatherall DJ, Clegg JB. Policythemia associated with a hemoglobinopathy. J Clin Invest 1966; 45: 813-822. 26. Solmac S, Kuksal F, Ganidagli S. Is obstructive sleep apnea syndrome really one of the causes of secun- dary polycythaemia. Hematology 2015; 20(2): 108- 111. 27. Sykes DB, Schroyens W. Complete responses in the TEMPI Syndrome after treatment with Daratumu- mab. N Engl J Med 2018; 378(23): 2240-2242. 28. Lee G, Arcasoy MO. The clinical and laboratory eva- luation of the patient with erythrocytosis. J Int Med 2015; 26: 297-302. 29. Torres W, García Roa M, Manubens A et al. He- moglobinopathies with high oxygen affinity. Hae- matologica 2015; 99(51): 183. 30. Torres W, García Roa M, Gutiérrez Alvariño M et al. Characterization of 6 hemoglobinophaties ocu- rring with cianosis and/or lowering the oxygen sa- turation. Haematologica 2015; 99(51): 183. 31. Wajcman H, Galacteros F. Hemoglobin with high oxygen affinity leading to erythrocytosis. New va- riants and new concepts. Hemoglobin 2005; 29(2): 91-106. 32. Juncá J, Villegas A, Ropero P, Polo M, Valverde F. Characterization of a new hemoglobin variant: Hb Badalona β(31) Leu→val). Ann Hematol 2002; 81(4): 179-181. 33. Ropero P, Fernández Lago C, Villegas A et al. Hb La Coruña [β38 (C4) Thr→Ille] a new hemoglo- bin leading to familial polycythemia. Hemoglobin 2006; 30(3): 379-383. 34. Ropero P, González FA, Cela E et al. Erythrocyto- sis in a child due to Hb Andrew-Minneapolis [β 144 (HC1) Lys→ASN (AAG>AAT o AAC] associ- ated with a Spanish (δβ)º thalassemia. Hemoglobin 2013; 37(1): 48-55. Si desea citar nuestro artículo: Villegas-Martínez A. Diagnóstico diferencial de las eritrocitosis ANALES RANM [Internet]. Real Academia Nacional de Medicina de España; An RANM · Año 2020 · número 137 (01) · páginas 35–43 DOI: 10.32440/ar.2020.137.01.rev04 DECLARACIÓN DE TRANSPARENCIA Los autores/as de este artículo declaran no tener ningún tipo de conflicto de intereses respecto a lo expuesto en la presente revisión.