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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Veröffentlicht in:	Hemoglobin 2009-12, Vol.33 (6), p.503-506
Hauptverfasser:	Babb, Anna, Solaiman, Susannah, Green, Brian N., Mantio, Debbie, Patel, Ketan
Format:	Artikel
Sprache:	eng
Schlagworte:	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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Beschreibung
Zusammenfassung:	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