Childhood polycythemias/erythrocytoses: classification, diagnosis, clinical presentation, and treatment

Annals of Hematology
H Cario


Polycythemias or erythrocytoses in childhood and adolescence are very rare. Systematic data on the clinical presentation and laboratory evaluations as well as on treatment regimens are sparse. The diagnostic program in absolute erythrocytosis includes extensive clinical, hematological, biochemical, and molecular biological examinations which should be applied following a stepwise algorithm. Absolute erythrocytoses are usually subdivided into primary and secondary forms. Primary erythrocytosis is a condition in which the erythropoietic compartment is expanding independently of extrinsic influences or by responding inadequately to them. Primary erythrocytoses include primary familial and congenital polycythemia (PFCP) due to mutations of the erythropoietin (Epo) receptor gene and the myeloproliferative disorder polycythemia vera. Secondary erythrocytoses are driven by hormonal factors (predominantly by Epo) extrinsic to the erythroid compartment. The increased Epo secretion may represent either a physiologic response to tissue hypoxia, an abnormal autonomous Epo production, or a dysregulation of the oxygen-dependent Epo synthesis. Congenital secondary erythrocytoses are caused, e.g., by hemoglobin variants with increased oxygen a...Continue Reading


Nov 1, 1978·The Journal of Clinical Investigation·R RosaJ Rosa
Jan 1, 1979·The Journal of Pediatrics·P R Dallman, M A Siimes
Oct 21, 1976·The New England Journal of Medicine·J W AdamsonL Steinmann
Dec 1, 1991·Blood Reviews·T C Pearson
Nov 1, 1989·Cleveland Clinic Journal of Medicine·R L MillerJ K Weick
Jun 1, 1966·The Journal of Clinical Investigation·S CharacheJ B Clegg
Jan 1, 1980·American Journal of Hematology·E H DanishJ W Harris
Jan 1, 1981·American Journal of Hematology·R RosaJ Rosa
Jun 30, 1995·Science·Jaroslav F PrchalL Sokol
May 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·A de la ChapelleE Juvonen
Jul 15, 1993·The New England Journal of Medicine·F A Oski
Aug 1, 1996·Hematology and Cell Therapy·H Wajcman, F Galactéros
Sep 1, 1996·Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie·M V VodoffJ P Farriaux
Oct 6, 1997·Journal of Pediatric Surgery·A SandlerA J Ky
Mar 6, 1998·British Journal of Haematology·M J PercyT C Pearson
May 10, 2000·Annals of Hematology·E LengfelderR Hehlmann
Sep 1, 2000·The American Journal of Medicine·A TefferiM N Silverstein
Sep 6, 2000·American Journal of Nephrology·C S LimJ S Lee
Oct 21, 2000·Archives of Disease in Childhood·S M GospeR A Kreutzer
Nov 15, 2000·Deutsche medizinische Wochenschrift·E Lengfelder, R Hehlmann
Mar 10, 2001·Seminars in Hematology·H S Gilbert
Aug 23, 2001·Trends in Molecular Medicine·Gregg L Semenza
Sep 18, 2001·American Journal of Hematology·Robert Kralovics, Josef T Prchal
Feb 14, 2002·British Journal of Haematology·Jerry L Spivak
Mar 29, 2002·Archives of Disease in Childhood·M G Coulthard, W H Lamb
May 4, 2002·Blood Cells, Molecules & Diseases·Sonny O AngJosef T Prchal
Jun 8, 2002·Pediatric Hematology and Oncology·Meral TurkerIsin Yaprak
Oct 24, 2002·Blood·Yves D PastoreJosef T Prchal
Nov 5, 2002·Nature Genetics·Sonny O AngJosef T Prchal
Mar 18, 2003·The Journal of Biological Chemistry·L Eric Huang, H Franklin Bunn
Jun 18, 2003·Journal of Clinical Gastroenterology·Gonzalo García-CasasolaAntonio Zapatero
Jul 5, 2003·American Journal of Human Genetics·Yves D PastoreJosef T Prchal
Nov 10, 1960·The New England Journal of Medicine·A A MARLOW, Virgil F Fairbanks
Oct 9, 2003·British Journal of Haematology·H CarioKlaus-Michael Debatin
Nov 25, 2003·Hematology·Jerry L SpivakMonia Marchetti
Jan 9, 2004·The New England Journal of Medicine·Raffaele LandolfiEuropean Collaboration on Low-Dose Aspirin in Polycythemia Vera Investigators
Apr 3, 2004·British Journal of Haematology·Isao MiyoshiYuji Ohtsuki
Apr 20, 2004·The Journal of Pathology·Oliver BockHans Kreipe
May 15, 2004·British Journal of Haematology·K B PetersenC Guldborg Nyvold
Jul 1, 2004·Expert Review of Molecular Diagnostics·Heike L Pahl


May 20, 2008·Pediatric Hematology and Oncology·Jayoung Hwang, Wonbae Lee
Sep 24, 2005·Mayo Clinic Proceedings·A Tefferi, Tiziano Barbui
Sep 3, 2008·Veterinary Clinical Pathology·Jenifer R GoldTracy Stokol
Aug 12, 2006·Journal of Veterinary Medicine. A, Physiology, Pathology, Clinical Medicine·M TakagiE Deguchi
Apr 13, 2006·European Journal of Haematology·Lambros K BourantasIoannis Georgiou
Jan 26, 2010·British Journal of Haematology·Lily J HuangGamze B Bulut
Nov 27, 2015·Journal of Hematopathology·Inga Hofmann
Jun 20, 2006·Best Practice & Research. Clinical Haematology·A Tefferi
Mar 21, 2007·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Luciana TeofiliLuigi M Larocca
May 28, 2019·European Journal of Haematology·Nabhajit MallikReena Das
Aug 20, 2005·Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology·Margherita MassaGiovanni Barosi

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