Hb Nottingham or alpha 2 beta 2 98 (FG5) Val-->Gly in a Czech child

Ann Hematol. 1994 Aug;69(2):93-5. doi: 10.1007/BF01698489.

Abstract

We report a fourth case of Hb Nottingham [alpha 2 beta 2 98 (FG5) Val-->Gly] observed in an 8-year-old girl in the Czech Republic with clinical and laboratory symptoms of severe hemolytic anemia. The unstable hemoglobin probably represents a de novo mutation, since the parents of the patient and the two siblings do not exhibit any hematological abnormalities. Splenectomy had a beneficial effect on the degree of hemolysis, as well as on the Hb level.

Publication types

  • Case Reports

MeSH terms

  • Amino Acid Sequence
  • Chromatography, High Pressure Liquid
  • Czech Republic
  • DNA / analysis
  • Female
  • Hemoglobins, Abnormal / analysis*
  • Hemoglobins, Abnormal / genetics
  • Humans
  • Infant
  • Molecular Sequence Data
  • Peptide Fragments / genetics

Substances

  • Hemoglobins, Abnormal
  • Peptide Fragments
  • hemoglobin Nottingham
  • DNA