title: HB Hillingdon [alpha46(CE4)Phe-->Val (alpha1 Or alpha2)]: a new alpha chain hemoglobin variant.
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.
authors: Department of Haematology, Imperial College Healthcare National Health Service (NHS) Trust, Hammersmith Hospital, London W12 0HS, Middlesex, UK. annababb@btinternet.com
authors: Anna
authors: A
authors: Babb
authors: Susannah
authors: S
authors: Solaiman
authors: Brian N
authors: BN
authors: Green
authors: Debbie
authors: D
authors: Mantio
authors: Ketan
authors: K
authors: Patel
mesh_terms: D005260:Female; D014644:Genetic Variation; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D021241:Spectrometry, Mass, Electrospray Ionization; D013188:Sri Lanka; D055815:Young Adult; D055542:alpha-Globins / Q000235:genetics*
chemical_list: D006455:Hemoglobins, Abnormal; D055542:alpha-Globins; C547657:hemoglobin Hillingdon