SN – study design, Selleck Fulvestrant data interpretation, acceptance of final manuscript version. OI – data collection. DD – statistical analysis, literature search. None declared. None declared. The work described in this article has been carried out in accordance with The Code of Ethics of the World Medical Association (Declaration of Helsinki) for experiments involving humans; EU Directive 2010/63/EU for animal experiments; Uniform Requirements for manuscripts submitted

to Biomedical journals. “
“In the diagnosis of elevated hemoglobin concentration primary, secondary as well as pseudo high hemoglobin concentration should be considered as possible causes [1] and [2]. The underlying causes of increased

red blood cell proliferation can be attributed to hereditary or acquired diseases. Hereditary primary disease is characterized by a defect in the erythroid progenitor cells which causes an abnormal response to cytokines that regulate the growth and maturation of the erythroid line – erythropoetin receptor gene mutations (familial erythrocytosis type 1). Hereditary secondary disease includes types 2, 3 and 4 familial erythrocytosis whose underlying causes are mutations of genes regulating the synthesis selleck screening library of erythropoetin such as the von Hippel Lindau factor (Chuvash polycythemia), PHD2 factor and hypoxia inducible factor HIF-2 alpha. In addition, the hereditary secondary group also includes hemoglobinopathies such as Luton hemoglobinopathy in which a higher affinity for oxygen by abnormal hemoglobin stimulates compensatory overproduction of cells and enhanced hemoglobin synthesis [1], [3], [4], [5], [6] and [7].

Polycythemia vera is classified as a myeloproliferative disease whose main underlying factor is considered to be a molecular defect, a mutation of the JAK V617F gene [8]. In turn, secondary polycythemia is associated with an increased production of erythropoietin in the course of diseases such as cancer, hemangiomas, as well as in patients with congenital heart diseases or respiratory failure [9] and [10]. Relative increase in hemoglobin concentration is also observed in states of dehydration, most often in the course of an infection, gastrointestinal disorders Org 27569 with diarrhea, vomiting and fever [1]. In cases where no identifiable cause can be found it is termed idiopathic polycythemia [1]. Hereditary hemochromatosis is a metabolic disease in which a genetically determined defect leads to abnormal iron homeostasis. Excessive iron absorption from the gastrointestinal tract and uncontrolled release of iron from macrophages results in body iron overload. Current classification distinguishes 4 types of hemochromatosis, among which hemochromatosis type 1 is the most frequently diagnosed (HFE) [11] and [12].