Centro Hospitalar e Universitário de Coimbra, EPE
 Cabeçalho Serviço Hematologia CHC
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Congenital Erythrocytosis

Congenital erythrocytoses in children and adolescents represent rare and heterogeneous clinical entities. Systematic data on the clinical presentation and laboratory evaluations as well as on the treatment of these disorders in childhood, adolescence but - with the exception of polycythemia vera - also in adults are sparse.

Aims of the study:

Development and implementation of diagnostic guidelines for erythrocytoses with primary hematological manifestation including the hemoglobinopathies with high affinity hemoglobin, familial 2,3-BPG deficiencies, disorders of erythropoietin synthesis (e.g. von-Hippel-Lindau gene mutations) and signalling (e.g. erythropoietin-receptor mutations), polycythemia vera, and erythrocytoses of so far unknown etiology

Registration and data collection of all patients with apparently congenital primary and secondary erythrocytosis currently living in central Europe. Children and adolescents with polycythemia vera will be included.

The study focuses on the clinical examination and on hematological, biochemical and molecular biological tests in patients with absolute erythrocytosis to characterise the underlying diseases.

Based on an initial retrospective analysis, prospective data on the clinical course, the treatment, complications, and on pathophysiologic changes secondary to the erythrocytosis will be collected.
Neonatal polycythemia will not be included into this survey. Patients with secondary erythrocytosis due to cardiac, pulmonary, or renal diseases can be followed as observational patients and may be included in the evaluation of particular aspects of the study.


Congenital Erythrocytosis