Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0032463 (polycythemia vera)
 3,374 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A new mutant, hemoglobin Cowtown, has been found in a white man and his father, both of whom have erythrocytosis. The father had previously been treated with 32P for polycythemia vera. The abnormal hemoglobin is not detectable on electrophoresis in alkaline buffers, but it resolves distinctively on electrophoresis in citrate agar, pH 6.0; similarly, the abnormal beta-globin chain does not separate from beta-A in urea 2-mercaptoethanol buffers of pH 8.9, but it moves anodically to beta-A at pH 6.0. Peptide chromatography and amino acid analysis of the beta chain reveal that the C-terminal histidine residue (beta 146) has been replaced by leucine. Like several other hemoglobins substituted at this residue, Hb Cowtown has a high oxygen affinity and a diminished Bohr effect.
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PMID:Hemoglobin Cowtown (beta 146 HC3 His-Leu): a mutant with high oxygen affinity and erythrocytosis. 4 11

Induction of globin gene expression in KMOE cells derived from a patient with acute erythremia was studied by Northern blot and S1 analysis. KMOE cells exposed to cytosine arabinofuranoside (Ara-C) synthesized beta-globin gene transcripts, however, in the presence of hemin gamma-globin gene transcripts. An increase in alpha-globin gene transcripts was also detectable in KMOE cells treated with both Ara-C and hemin. Upon exposure to hemin after exposure to Ara-C, or exposure to Ara-C after hemin, there was a 5-10-fold increase in gamma-globin gene transcripts compared to that of cells induced by hemin alone. Neither epsilon nor zeta globin transcripts were detected. The KMOE cell line, therefore, exhibits phenotypic properties of adult and fetal erythroid cells.
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PMID:Differential induction of adult and fetal globin gene expression in the human erythremia cell line KMOE. 244 37

Hb Villejuif [beta123(H1)Thr-->Ile] is a silent and asymptomatic variant described in 1989 in an 87-year-old woman of French origin suffering from coincidental polycythemia vera. This paper reports the second observation of Hb Villejuif in three related subjects from Montesarchio, Southern Italy. All routine techniques for hemoglobin analysis yielded normal results with the exception of a slight increase in the Hb A2 value. The occurrence of a variant beta-globin was rapidly assessed by liquid chromatography mass spectrometric analysis and the abnormal chain purified by high performance liquid chromatography. The amino acid replacement Thr-->Ile at beta123 was determined by tandem electrospray mass spectrometric analysis of the tryptic digest of the variant beta chain. The corresponding DNA mutation was established as C-->T at the second position of codon 123 (ACC-->ATC) by polymerase chain reaction amplification techniques.
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PMID:Identification of Hb Villejuif [beta123(H1)Thr-->Ile] in Southern Italy. 1130 Mar 51