INTRODUCTION The World Health Organization classification of chronic myeloproliferative disease encompasses eight entities of bone marrow neoplasms, among them Breakpoint cluster region-Abelson murine leukemia viral oncogene homolog 1-positive chronic myeloid leukemia and polycythemia vera. Polycythemia vera requires, in the majority of cases (95%), the negativity of Breakpoint cluster region-A...

A 22 year old woman with a solid haemangioblastoma in the posterior fossa. cervicomedullary junction and spinal cord is reported. Preoperative magnetic resonans imaging (MR!) provided prease indications of the anatomicallocation and radiological features of the tumor that faalitated its partial removal by microsurgery. Laboratory investigations showed assoaated erythrocytosis of the haemangiobl...

A classic physiologic response to hypoxia in humans is the up-regulation of the ERYTHROPOIETIN (EPO) gene, which is the central regulator of red blood cell mass. The EPO gene, in turn, is activated by hypoxia inducible factor (HIF). HIF is a transcription factor consisting of an alpha subunit (HIF-alpha) and a beta subunit (HIF-beta). Under normoxic conditions, prolyl hydroxylase domain protein...

Hereditary hemochromatosis (HH) is an inherited iron overload disorder, particularly prevalent in Irish and Scandinavian populations (1), characterised by abnormal iron metabolism, leading to excess iron deposition in the parenchymal cells of the liver, heart, and endocrine organs. HH is commonly associated with mutations in the HFE gene and in other genes such as HJV, that regulate the biology...

BACKGROUND AND OBJECTIVES Idiopathic erythrocytosis (IE) is characterized by erythrocytosis in the absence of megakaryocytic or granulocytic hyperplasia, and is associated with variable serum erythropoietin (Epo) levels. Most patients with IE lack the JAK2 V617F mutation that occurs in the majority of polycythemia vera patients. Four novel JAK2 mutant alleles have recently been described in pat...