Detection of the JAK2V617F mutation is of major help in the diagnosis of myeloproliferative neoplasms (MPNs). Techniques using allele-specific quantitative PCR (AS-qPCR) can reliably and consistently detect down to 0.001% mutated alleles. Moreover, a study of healthy blood donors has shown that the maximum JAK2V617F value in 200 subjects was 0.035%. In practice, a positivity threshold of 1% is ...

A naturally occurring infection of Ehrlichia chaffeensis in lemurs is described. DNA of Ehrlichia chaffeensis was identified by polymerase chain reaction in peripheral blood from six of eight clinically ill lemurs. Organisms were cultured from the blood of one lemur exhibiting clinical and hematologic abnormalities similar to those of humans infected with E. chaffeensis.

We present a case of a 4.5-month-old boy from Turkey with hemophagocytic lymphohistiocytosis (HLH) associated with H1N1 virus and Leishmania spp. coinfection. Because visceral leishmaniasis can mimic hematologic disorders like HLH, it is important to rule out this clinical condition before starting immunosuppressive therapy. In our case, treatment with liposomal amphotericin B resulted in a dra...

Background Neonatal Lupus Erythematodus (NLE) is a rare disease occurring in offspring from mothers with anti-Ro with or without anti-La antibodies. Much is known about the individual manifestations (congenital heart block (CHB), cutaneous rash, hematologic and hepatic laboratory abnormalities and macrocephaly) but it is unclear how these and other autoantibodies (anti-dsDNA, anti-RNP and anti-...

The ERYTHROPOIETIN (EPO) gene is regulated by the transcription factor Hypoxia Inducible Factor-alpha (HIF-alpha). In this pathway, Prolyl Hydroxylase Domain protein 2 (PHD2) hydroxylates two prolyl residues in HIF-alpha, which in turn promotes HIF-alpha degradation by the von Hippel Lindau (VHL) protein. Evidence that HIF-2alpha is the important isoform for EPO regulation in humans comes from ...

A serious complication of aplastic anemia (AA) is its evolution to clonal hematologic diseases such as myelodysplasia (MDS) and leukemia, which is usually associated with the appearance of a cytogenetic abnormality in bone marrow cells. We present here an analysis of a cohort of 30 patients with otherwise typical AA in whom clonal karyotypic evolution was observed during frequent periodic marro...

Survey of 27 cases in the literature and the authors' 3 cases reveals a characteristic syndrome of congenital absence of the spleen with certain cardiovascular and gastrointestinal abnormalities. The hematologic and other findings permit a presumptive antemortem diagnosis. More accurate prognosis is made possible and valuable information is afforded the cardiac surgeon, since the cardiac anomal...

The most common cause of an increase of the hematocrit is secondary to elevated erythropoietin levels. Erythrocytosis is assumed to cause higher blood viscosity that could put the cardiovascular system at hemodynamic and rheological risks. Secondary erythrocytosis results from tissue hypoxia, and one can hardly define what cardiovascular consequences are caused by chronic erythrocytosis or hypo...

The most common cause of an increase of the hematocrit is secondary to elevated erythropoietin levels. Erythrocytosis is assumed to cause higher blood viscosity that could put the cardiovascular system at hemodynamic and rheological risks. Secondary erythrocytosis results from tissue hypoxia, and one can hardly define what cardiovascular consequences are caused by chronic erythrocytosis or hypo...

Polycythemia vera (PV) is characterized by low serum total cholesterol despite its association with vascular events such as myocardial and cerebral infarction. Serum cholesterol level has not been used as a diagnostic criterion for PV since the 2008 revision of the WHO classification. Therefore, we revisited the relationship between serum lipid profile, including total cholesterol level, and er...