Congenital and inherited polycythemia

Current Opinion in Pediatrics
R Kralovics, J T Prchal

Abstract

Absolute polycythemia is a condition with increased red blood cell mass. There are a number of primary and secondary polycythemic disorders leading to absolute polycythemia. Primary polycythemias are caused by a defect intrinsic to the erythroid progenitor cells. The best characterized primary polycythemia is the autosomal dominant primary familial and congenital polycythemia (PFCP). Familial or childhood occurrence of the myeloproliferative disorder polycythemia vera are also discussed, emphasizing the importance of distinction between polycythemia vera and PFCP. Congenital or familial secondary polycythemic conditions are characterized by increased red cell mass, which is caused by circulating serum factors, typically erythropoietin.

References

Nov 15, 2002·International Journal of Hematology·Rosemary E Gale
Nov 25, 2003·Lancet·M PavicH Rousset
Feb 15, 2002·British Journal of Haematology·H A Blacklock, G A Royle
Mar 7, 2003·Journal of Pediatric Hematology/oncology·Voravarn S TanphaichitrPanutsaya Tientadakul
Jun 26, 2004·Journal of Pediatric Hematology/oncology·Tom Van MaerkenJoris Verlooy
Feb 7, 2001·Proceedings of the National Academy of Sciences of the United States of America·V DivokyJ T Prchal
Feb 2, 2016·La Revue de médecine interne·T BarbaM Pavic
Dec 27, 2015·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Vladimir DivokyDonghoon Yoon
May 15, 2004·British Journal of Haematology·K B PetersenC Guldborg Nyvold
Sep 18, 2016·La Revue de médecine interne·O Mangin
May 10, 2018·International Journal of Laboratory Hematology·C Bento
Nov 5, 2002·Nature Genetics·Sonny O AngJ T Prchal
Dec 9, 2003·Journal of Applied Physiology·Neil S Cherniack
Mar 18, 2004·Scandinavian Journal of Clinical and Laboratory Investigation·P JohanssonB Andréasson

Citations

May 1, 1976·Annals of Internal Medicine·M A LichtmanJ W Adamson
Oct 21, 1976·The New England Journal of Medicine·J W AdamsonL Steinmann
Mar 1, 1991·Mayo Clinic Proceedings·J L Diez-MartinG W Dewald
Aug 1, 1990·Proceedings of the National Academy of Sciences of the United States of America·A AnagnostouM Steiner
Apr 21, 1989·Cell·A D D'AndreaG G Wong
Nov 1, 1989·Cleveland Clinic Journal of Medicine·R L MillerJ K Weick
Jun 30, 1995·Science·J T PrchalL Sokol
Apr 25, 1995·Proceedings of the National Academy of Sciences of the United States of America·M DigicayliogluM Gassmann
Jan 1, 1994·Human Molecular Genetics·A SanderJ C Murray
Jan 1, 1994·Human Molecular Genetics·L Sokol, J T Prchal
Apr 26, 1994·Proceedings of the National Academy of Sciences of the United States of America·A AnagnostouC T Noguchi
Jul 1, 1994·American Journal of Hematology·M Pérez-EncinasS Tome
May 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·A de la ChapelleE Juvonen
Feb 1, 1996·American Journal of Hematology·T InabaM Nakagawa
Feb 1, 1996·American Journal of Hematology·C DuhemM Dicato
Mar 30, 1996·Lancet·A R Green
Jan 1, 1997·Seminars in Thrombosis and Hemostasis·J J Michiels, P J Van Genderen
Mar 1, 1995·Current Opinion in Hematology·J T Prchal
Jan 20, 2000·Baillière's Clinical Haematology·R Kralovics, J T Prchal

Related Concepts

Polycythemia Vera
Bisphosphoglycerate Mutase
Familial Erythrocytosis
Myopathy
2,3-Diphosphoglycerate, (D)-Isomer
Erythropoietin
Abnormal Hemoglobins
Polycythemia
Methemoglobinemia
Headache Disorders, Secondary

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Synapse Loss as Therapeutic Target in MS

As we age, the number of synapses present in the human brain starts to decline, but in neurodegenerative diseases this occurs at an accelerated rate. In MS, it has been shown that there is a reduction in synaptic density, which presents a potential target for treatment. Here is the latest research on synapse loss as a therapeutic target in MS.

Artificial Intelligence in Cardiac Imaging

Artificial intelligence (ai) techniques are increasingly applied to cardiovascular (cv) medicine in cardiac imaging analysis. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

Social Learning

Social learning involves learning new behaviors through observation, imitation and modeling. Follow this feed to stay up to date on the latest research.

Cell Atlas of the Human Eye

Constructing a cell atlas of the human eye will require transcriptomic and histologic analysis over the lifespan. This understanding will aid in the study of development and disease. Find the latest research pertaining to the Cell Atlas of the Human Eye here.

Single Cell Chromatin Profiling

Techniques like ATAC-seq and CUT&Tag have the potential to allow single cell profiling of chromatin accessibility, histones, and TFs. This will provide novel insight into cellular heterogeneity and cell states. Discover the latest research on single cell chromatin profiling here.

Genetic Screens in iPSC-derived Brain Cells

Genetic screening is a critical tool that can be employed to define and understand gene function and interaction. This feed focuses on genetic screens conducted using induced pluripotent stem cell (iPSC)-derived brain cells.