Haematologica, Vol 92, Issue 5, 674-677 doi:10.3324/haematol.10787
Copyright © 2007 by Ferrata Storti Foundation
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Red Cell Disorders

Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis

Susana Rives, Heike L. Pahl, Lourdes Florensa, Beatriz Bellosillo, Andrea Neusuess, Jesus Estella, Klaus-Michael Debatin, Elisabeth Kohne, Klaus Schwarz, Holger Cario

From the Department of Pediatric Hematology and Oncology, Hospital Sant Joan de Déu, Barcelona, Spain (SR, JE); Department of Anaesthesiology, University Hospital Freiburg, Freiburg, Germany (HLP); Laboratori de Citologia Hematologica, Servei de Patologia, Hospital del Mar-IMAS, Barcelona, Spain (LF); Laboratori de Citogenètica i Biologia molecular, S. Patologia, Hospital del Mar, Barcelona, Spain (BB); Department of Pediatrics, University Hospital Schleswig-Holstein, Campus Kiel, Germany (AN); Department of Pediatrics, University Hospital Ulm, Ulm, Germany (K-MD, EK, HC); Institute for Transfusion Medicine, University Hospital Ulm, Ulm, Germany and Institute for Clinical Transfusion Medicine and Immunogenetics, Ulm (KS)

Correspondence: Holger Cario, M.D. Department of Pediatrics, University Hospital Ulm, Eythstrasse 24, D-89075 Ulm, Germany. E-mail: holger.cario{at}uniklinik-ulm.de

Dominant mutations in the erythropoietin receptor (EPOR) gene account for only about 15% of cases of primary congenital erythrocytosis. To search for molecular alterations in patients with this disorder. Sixteen patients with Epo <10 mU/mL were studied, 3 were related. Analyses included EPOR and JAK2 gene sequencing, quantitative PRV-1 RT-PCR, and erythroid colony assays. A novel sporadic EPOR 1453G->A (Trp439Stop) mutation was detected. All familial cases, varied in phenotype, presented the EPOR 1414C->G (Tyr426Stop) mutation. JAK2 mutations are not involved in the pathogenesis of primary congenital erythrocytosis.

Key words: congenital erythrocytosis, polycythemia, erythropoietin receptor, primary familial erythrocytosis, PCFP, JAK2.




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