Fiche publication
Date publication
août 2008
Auteurs
Membres identifiés du Cancéropôle Est :
Mme SCHAEFFER-REISS Christine
,
Dr VAN DORSSELAER Alain
Tous les auteurs :
Bisse E, Schaeffer C, Hovasse A, Preisler-Adams S, Epting T, Baumstark M, Van Dorsselaer A, Horst J, Wieland H
Lien Pubmed
Résumé
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.
Référence
J Chromatogr B Analyt Technol Biomed Life Sci. 2008 Aug 1;871(1):55-9.
