Author/Authors :
Bissé، نويسنده , , Emmanuel and Schaeffer، نويسنده , , Christine and Hovasse، نويسنده , , Agnès and Preisler-Adams، نويسنده , , Sabine and Epting، نويسنده , , Thomas and Baumstark، نويسنده , , Manfred and Van Dorsselaer، نويسنده , , Alain and Horst، نويسنده , , Jürgen and Wieland، نويسنده , , Heinrich، نويسنده ,
Abstract :
A new δ-chain variant, δ143 (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. P50 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 A2 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.
Keywords :
Hb ?-variant , HPLC , Oxygen affinity , Nano-LC–MS
