Haemoglobin Noah Mehmet Oeztuerk (alpha(2) delta(2)143 (H21)His-->Tyr: A novel delta-chain variant in the 2,3-DPG binding site.
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.
Bissé
Emmanuel
E
Department of Clinical Chemistry, University Medical Center, Freiburg, Germany. emmanuel.bisse@uniklinik-freiburg.de <emmanuel.bisse@uniklinik-freiburg.de>
Schaeffer
Christine
C
Hovasse
Agnès
A
Preisler-Adams
Sabine
S
Epting
Thomas
T
Baumstark
Manfred
M
Van Dorsselaer
Alain
A
Horst
Jürgen
J
Wieland
Heinrich
H
D000743:Anemia, Hemolytic / Q000097:blood; D001665:Binding Sites; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D013058:Mass Spectrometry
D006455:Hemoglobins, Abnormal; C532048:hemoglobin Noah Mehmet Oeztuerk