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HB Hillingdon [alpha46(CE4)Phe-->Val (alpha1 Or alpha2)]: a new alpha chain hemoglobin variant
Anna Babb1, Susannah Solaiman, Brian N Green
1Department of Haematology, Imperial College Healthcare National Health Service (NHS) Trust, Hammersmith Hospital, London W12 0HS, Middlesex, UK. annababb@btinternet.com
Abstract:
Routine antenatal hemoglobinopathy screening detected a new alpha chain variant that eluted with Hb A(2) 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 alpha46(CE4)Phe-->Val, inferring that the variant was due to a single base change at codon 46 (TTC>GTC) of the alpha1- or alpha2-globin genes.
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