Haemoglobin Noah Mehmet Oeztuerk (α2 δ2143 (H21)His → Tyr: A novel δ-chain variant in the 2,3-DPG binding site

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.