HB Hillingdon [α46(CE4)Phe→Val (α1 Or α2)]: A New α Chain Hemoglobin Variant

Abstract

Routine antenatal hemoglobinopathy screening detected a new α chain variant that eluted with Hb A₂ on cation exchange high performance liquid chromatography (HPLC) in a lady of Sri Lankan origin who had normal hematological indices. The mutation was identified by electrospray ionization mass spectrometry (ESI-MS) as α46(CE4)Phe→Val, inferring that the variant was due to a single base change at codon 46 (TTC>GTC) of the α1- or α2-globin genes.

Keywords:

• α Chain
• Hemoglobin (Hb) variant
• Missense
• Codon 46