What is it about?
Congenital Erythrocytosis (CE), or congenital polycythemia, represents a rare and heterogeneous clinical entity. It is caused by deregulated red blood cell production where erythrocyte overproduction results in elevated hemoglobin and hematocrit levels.
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Why is it important?
Despite recent important discoveries in the molecular pathogenesis of CE, the molecular causes remain to be identified in about 70% of the patients. With the objective of collecting all the published and unpublished cases of CE the COST action MPN&MPNr-Euronet developed a comprehensive internet-based database focusing on the registration of clinical history, hematological, biochemical and molecular data (http://www.erythrocytosis.org/).
Perspectives
Significant advances have been made during the past decade inthe CE field with the identification of causal mutations in the EPOR gene and the elucidation of the genes directly implicated in thehypoxia sensing mechanism. Presently,over 160 mutations have been associated with CE but despite thisabout 70% of the CE patients, and 12–35% of PFCP cases, stillremain unexplained at the molecular level. The absence of erythro-cytosis in a child heterozygous for a deleterious nonsense EPOR mutation and the observation of individuals heterozygous for VHL mutations with erythrocytosis confirm that other genes or epistatic factors must be implicated in theclinical manifestation of CE. The incoming use of next-generation sequencing is expected to further expand the number of genes involvedin CE. With the implementation of the internet-based erythrocytosis database, it is hoped that it will allow the establishment of clinical and genotype–phenotype correlations in larger groups of individuals.
Dr. Gennadiy G. Taradin
M Gorky Donetsk State Medical University
Read the Original
This page is a summary of: Genetic Basis of Congenital Erythrocytosis: Mutation Update and Online Databases, Human Mutation, October 2013, Wiley,
DOI: 10.1002/humu.22448.
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