Background. Idiopathic erythrocytosis is the term reserved for cases with unexplained origins of abnormally increased hemoglobin after initial investigation. Extensive molecular investigation of genes associated with oxygen sensing and erythropoietin signaling pathways, in those cases, usually involves sequencing all of their exons and it may be time consuming. Aim. To perform a strategy for mo...

BACKGROUND Paraneoplastic erythrocytosis can be brought on by ectopic erythropoietin production usually in kidney, brain, and liver tumor with increase of serum erythropoietin level. We report here a paraneoplastic erythrocytosis of colon cancer with serum erythropoietin within the normal reference, which required an immunohistologic test for erythropoietin-antibody to be diagnosed. CASE REPO...

A 57-year-old woman with hepatopulmonary syndrome was treated for eight years. Severe hypoxemia continued and her erythrocytosis was slowly progressive. Two episodes of intra cranial hemorrhagic attack had occurred during the follow-up period and the patient died due to multiple organ failure after the second intracranial hemorrhage. Her autopsy findings confirmed not only established liver cir...

A 58 year old male heavy smoker presented with intracranial haemorrhage and erythrocytosis. Four aetiologies of polycythaemia--polycythaemia rubra vera (PRV), renal cell carcinoma, sleep apnoea syndrome, and relative polycythaemia--were found to be associated with the underlying causes of erythrocytosis. He did not fulfill the diagnostic criteria for PRV at initial presentation, but an erythrop...

Figure 1. A) Pedigree of the family with erythrocytosis and hemoglobin (Hb) San Diego, illustrating dominant mode of inheritance of erythrocytosis. The propositus is indicated with an arrow; B) high-performance liquid chromatography (premier Hb9210 resolution) showing the presence of Hb San Diego. Ebru Yılmaz Keskin1, Ali Fettah2, Ana Catarina Oliveira3, Şule Toprak2, Andreia Lopes3, Celeste Be...

Primary familial erythrocytosis (familial polycythemia) is a rare myeloproliferative disorder with an autosomal dominant mode of inheritance. We studied a new kindred with autosomal dominantly inherited familial erythrocytosis. The molecular basis for the observed phenotype of isolated erythrocytosis is heterozygosity for a novel nonsense mutation affecting codon 399 in exon 8 of the erythropoi...

The authors describe a 19 year old male with an isolated but absolute erythrocytosis with iron deficiency without evidence for polycythemia vera as well as another causes of erythrocytosis. The polycythemia was due to a recently described von Hippel-Lindau (VHL) mutation. By stopping iron therapy there was no more requirements for phlebotomy in this patient.

Erythrocytosis is a rare disorder characterized by increased red cell mass and elevated hemoglobin concentration and hematocrit. Several genetic variants have been identified as causes for erythrocytosis in genes belonging to different pathways including oxygen sensing, erythropoiesis and oxygen transport. However, despite clinical investigation and screening for these mutations, the cause of d...