Characterization of a new hemoglobin variant: Hb Badalona (beta31[B13]Leu-->Val)

Ann Hematol. 2002 Apr;81(4):179-81. doi: 10.1007/s00277-002-0447-6. Epub 2002 Mar 22.

Abstract

Hemoglobin (Hb) Badalona was identified in a 35-year-old Spanish female and two other family members. All affected subjects presented erythrocytosis and increased oxygen affinity (P(50): 21 mmHg). Hemoglobinopathy was not detected with electrophoretic methods. It was, however, separated and quantified by cation exchange and reverse-phase high-performance liquid chromatography. Hb Badalona accounted for 35% of the total Hb. No significant clinical symptoms were found to be related to this hemoglobinopathy. This is the first case of a Leu-->Val replacement at position beta31(B13) reported in the world literature.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Amino Acid Substitution
  • Chromatography, High Pressure Liquid
  • DNA Mutational Analysis
  • Family Health
  • Female
  • Genetic Variation
  • Globins / genetics
  • Hemoglobinopathies / genetics
  • Hemoglobins, Abnormal / chemistry
  • Hemoglobins, Abnormal / genetics*
  • Hemoglobins, Abnormal / metabolism
  • Humans
  • Oxygen / metabolism
  • Oxyhemoglobins / analysis
  • Point Mutation
  • Polycythemia / etiology
  • Polycythemia / genetics

Substances

  • Hemoglobins, Abnormal
  • Oxyhemoglobins
  • hemoglobin Badalona
  • Globins
  • Oxygen