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Molecular genetic analyses in familial and sporadic congenital primary erythrocytosis

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 1453GA (Trp439Stop) mutation was detected. All familial cases, varied in phenotype, presented the EPOR 1414CG (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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