Congenital polycythemia

Definition:

Congenital polycythemia or familial erythrocytosis includes a heterogeneous group of disorders with the common characteristic of an absolute increased red cell mass caused by inherited defects in hypoxia sensing. In primary polycythemias there is an innate defect in the hematopoietic progenitors which allows constitutive overproduction whereas in secondary polycythemias normal progenitors are acted on by serum erythropoietin.

References:

[1]. A Mamalaki, et al. Locus assignment of human alpha-globin structural mutants by selective enzymatic amplification of alpha 1 and alpha 2-globin cDNAs. Hum Genet. 1990 Oct;85(5):509-12. [Content Brief]

[2]. Frank S Lee, et al. Genetic causes of erythrocytosis and the oxygen-sensing pathway. Blood Rev. 2008 Nov;22(6):321-32. [Content Brief]

[3]. G Stamatoyannopoulos, et al. Hemoglobin Rainier (beta145 Tyrosine rarr Histidine): Alkali-Resistant Hemoglobin with Increased Oxygen Affinity. Science. 1968 Feb 16;159(3816):741-3. [Content Brief]

[4]. Jakub Zmajkovic, et al. A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. N Engl J Med. 2018 Mar 8;378(10):924-930. [Content Brief]

[5]. James D Hoyer, et al. Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency. Am J Hematol. 2004 Apr;75(4):205-8. [Content Brief]

[6]. M J Percy, et al. Genetically heterogeneous origins of idiopathic erythrocytosis. Hematology. 2007 Apr;12(2):131-9. [Content Brief]

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