Hb A2-Konz [δ50(D1)Ser → Thr; HBD: c.151T > A]: a new δ chain hemoglobin variant characterized by mass spectrometry and high performance liquid chromatography.
We report a new slow-moving δ chain hemoglobin (Hb) variant, named Hb A2-Konz [δ50(D1)Ser → Thr; HBD: c.151T > A]. It was detected during simultaneous measurement of Hb A1C and Hb A2 by high resolution cation exchange high performance liquid chromatography (HPLC) using a PolyCATA column. Hb A2-Konz comprised 0.8% of total Hb. This new variant was identified by peptide mapping using nanoliquid chromatography electrospray ionization-tandem mass spectrometry (nanoLC-ESI-MS/MS) as a serine to threonine substitution at δ50(D1), indicating that the variant was due to a single base change at codon 51 (TCT > ACT) of the δ-globin gene. The new mutant is clinically silent but could lead to a misdiagnosis of β-thalassemia (β-thal) based on the level of Hb A2.
Laboratoire de Spectrométrie de Masse Bio-Organique, Université de Strasbourg, IPHC, CNRS , Strasbourg , France.
Tchilabalo Dilezitoko
TD
Alayi
Alain
A
Van Dorsselaer
Thomas
T
Epting
Emmanuel
E
Bissé
Christine
C
Schaeffer-Reiss
D000368:Aged; D002851:Chromatography, High Pressure Liquid; D005260:Female; D006443:Hemoglobin A2 / Q000235:genetics* / Q000378:metabolism; D006455:Hemoglobins, Abnormal / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D020125:Mutation, Missense; D012694:Serine / Q000235:genetics; D021241:Spectrometry, Mass, Electrospray Ionization; D053719:Tandem Mass Spectrometry; D013912:Threonine / Q000235:genetics; D055546:delta-Globins / Q000235:genetics* / Q000378:metabolism
D006455:Hemoglobins, Abnormal; D055546:delta-Globins; C000593195:hemoglobin A2-Konz; D013912:Threonine; D012694:Serine; D006443:Hemoglobin A2