Congenital polycythemia
Definition:
References:
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[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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