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

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 spectro...

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Bibliographic Details
Published in:Hemoglobin 2009-12, Vol.33 (6), p.503-506
Main Authors: Babb, Anna, Solaiman, Susannah, Green, Brian N., Mantio, Debbie, Patel, Ketan
Format: Article
Language:English
Subjects:
alpha-Globins - genetics
Codon 46
Female
Genetic Variation
Hemoglobin (Hb) variant
Hemoglobins, Abnormal - genetics
Humans
Missense
Point Mutation
Spectrometry, Mass, Electrospray Ionization
Sri Lanka
Young Adult
α Chain
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Summary: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.
ISSN:0363-0269
1532-432X
DOI:10.3109/03630260903344259