Hb HILLINGDON [α46(CE4)Phe→Val (α1 OR α2)]: A NEW α CHAIN HEMOGLOBIN VARIANT
Hb HILLINGDON [α46(CE4)Phe→Val (α1 OR α2)]: A NEW α CHAIN HEMOGLOBIN VARIANT
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DOI：
10.3109/03630260903344259
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发表时间：
2009-01-01
期刊：
影响因子：
1
通讯作者：
Patel, Ketan
中科院分区：
文献类型：
--
作者：
Babb, Anna;Solaiman, Susannah;Patel, Ketan
Routine antenatal hemoglobinopathy screening detected a new a 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 alpha 46(CE4)Phe -> Val, inferring that the variant was due to a single base change at codon 46 (TTC>GTC) of the alpha 1- or alpha 2-globin genes.
