Haemoglobin Noah Mehmet Oeztuerk (alpha(2) delta(2)143 (H21)His-->Tyr: A novel delta-chain variant in the 2,3-DPG binding site

J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Aug 1;871(1):55-9. doi: 10.1016/j.jchromb.2008.06.055. Epub 2008 Jul 9.

Abstract

A new delta-chain variant, delta143 (H21) His-->Tyr or Hb Noah Mehmet Oeztuerk, was discovered during the investigation of the cause of hemolytic anaemia in a 6-month-old infant of Turkish descent. It was detected by Cation exchange high-performance liquid chromatography (CE-HPLC) using PolyCAT A column. P(50) was 20.6+/-0.60 mmHg and 29.3+/-0.40 mmHg for the carrier and the wild-type, respectively. This suggests an increase in oxygen affinity. On routine CE-HPLC Hb A(2) was low (1.2%) and the variant was not detected. An extended family study revealed that the variant was not associated with the anaemia or with any other clinical abnormality.

MeSH terms

  • Anemia, Hemolytic / blood
  • Binding Sites
  • Hemoglobins, Abnormal / genetics*
  • Humans
  • Infant
  • Male
  • Mass Spectrometry

Substances

  • Hemoglobins, Abnormal
  • hemoglobin Noah Mehmet Oeztuerk