Cerebellar hemangioblastoma is a rare cause of secondary erythrocytosis. Although the erythrocytosis is a result of erythropoietin (Ep) stimulation, direct evidence of Ep synthesis by the tumor has been lacking. In an erythrocytotic patient with a cerebellar hemangioblastoma we found elevated levels of Ep in the tumor cyst fluid and for the first time demonstrated Ep mRNA in the tumor by Northe...

To the editor: Polycythemia is a rare disorder in children and the vast majority of cases are secondary to causes such as cyanotic congenital heart disease, congenital lung diseases, liver and kidney disease, and masses producing erythropoietin. Mutations in exon 3 of the VHL gene are the most common cause of congenital erythrocytosis [1–3]. Several reports have shown evidence of heterozygous a...

Recent studies have shown decreased megakaryocyte expression of the thrombopoietin receptor (c-mpl) in patients with polycythemia vera (PV) but not in those with reactive erythrocytosis. We examined the diagnostic utility of this observation in 22 patients with PV, 7 patients with secondary erythrocytosis (SE), and 10 normal controls. Commercial antibodies against c-mpl were used with standard ...

for screening for Hb variants, such as electrophoresis, IEF, or ion-exchange HPLC, are not sufficient because 33 of the 89 different Hb variants associated with erythrocytosis do not induce any major change in net charge of the Hb molecule. The additional use of ESMS is encouraged because combination of this technique and IEF will increase the sensitivity for Hb variants that cause erythrocytos...

Aromatase inhibitors (AIs) are most commonly used for breast cancer patients with hormone receptor positive disease. Although the side effect profile of aromatase inhibitors is well known, including common side effects like arthralgia, bone pain, arthritis, hot flashes, and more serious problems like osteoporosis, we present a case of an uncommon side effect of these medications. We report the ...

Hemoglobin Rainier (beta(145) tyrosine-->histidine) is an abnormal hemoglobin associated with increased oxygen affinity, decreased heme-heme interaction, presence of a Bohr effect, and erythrocytosis, but without obvious clinical sequelae. Regulation of erythropoiesis was studied in affected members of families having either hemoglobin Rainier or Yakima, abnormal hemoglobins associated with ery...

\TO CLASSES of amino acid substitutions in hemoglobins have profound effects on the major function of this protein, oxygen transport. The first includes the hemoglobins M’ and hemoglobin Kansas,2 which result in cyanoSis in heterozygous subjects and no significant erythrocytosis. The second class, represented by hemoglobin Chesapeake3 and hemoglobin Yakima,4 is assocated with erythrocytosis in ...