Congenital erythrocytosis with increased erythropoietin level

• Published in: Journal of pediatric hematology/oncology Vol. 24; no. 3; pp. 234 - 236
• Main Authors: ATHANASIOU-METAXA, Miranda, ECONOMOU, Marina, TSANTALI, Chaido, KOUSSI, Afroditi, GOMBAKIS, Nikos
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott 01-03-2002
• Subjects: Biological and medical sciences; Bone Marrow - pathology; Colony-Forming Units Assay; Diagnosis, Differential; Diseases of red blood cells; Erythropoietin - blood; Female; Ferrous Compounds - therapeutic use; Hematologic and hematopoietic diseases; Humans; Infant; Medical sciences; Phlebotomy; Polycythemia - blood; Polycythemia - congenital; Polycythemia - therapy; Polycythemias; Human; Case study; Erythropoietin; Polycythemia; Female; Hemopathy; Diagnosis; Glycoprotein hormone; Congenital disease; Child
• ISSN: 1077-4114; 1536-3678
• DOI: 10.1097/00043426-200203000-00016

The term "absolute erythrocytosis" denotes a heterogeneous group of disorders characterized by an increased red blood cell mass. The authors describe a 20-month-old girl with absolute erythrocytosis. Erythropoietin levels were found to be extremely increased, although extensive evaluation failed to reveal a cause for such an inappropriate increase. Of interest is also the documentation of spontaneous erythroid colony formation in the patient's bone marrow cultures. Although such a finding is considered typical of polycythemia vera, the diagnostic criteria of this myeloproliferative disorder were not met.