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A case of the Hb Regina (beta 96 (FG3) Leu----Val) in a German male associated with high oxygen affinity and erythrocytosis.

Abstract
Hb Regina was identified in a 58-year-old German male and 2 of his 3 children. All affected subjects presented moderate erythrocytosis and the whole blood exhibited increased oxygen affinity (P50:17.5 mm Hg). This hemoglobinopathy was undetectable with the conventional electrophoretic methods. It was, however, separated and quantified by cation-exchange and reverse-phase high-performance liquid chromatography. Hb Regina accounted for 30-35% of the total Hb. No significant clinical symptoms were found to be related to this hemoglobinopathy. This is the first known instance in Germany, and so far the second case reported.
AuthorsE Bissé, H Wieland, H Ritschel
JournalActa haematologica (Acta Haematol) Vol. 85 Issue 4 Pg. 212-6 ( 1991) ISSN: 0001-5792 [Print] Switzerland
PMID1853685 (Publication Type: Case Reports, Journal Article)
Chemical References
  • Diphosphoglyceric Acids
  • Hemoglobins, Abnormal
  • 2,3-Diphosphoglycerate
  • hemoglobin Regina
  • Leucine
  • Valine
  • Oxygen
Topics
  • 2,3-Diphosphoglycerate
  • Chromatography, High Pressure Liquid
  • Diphosphoglyceric Acids (blood)
  • Germany
  • Hemoglobins, Abnormal (analysis)
  • Humans
  • Leucine
  • Male
  • Middle Aged
  • Oxygen (blood)
  • Polycythemia (blood, genetics)
  • Valine

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