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First Report of Hb Limassol [β8(A5)Lys→Asn; HBB: c.27G>C] from Odisha, India

Satyabrata Meher1, Snehadhini Dehury1, Arpita Jana2

  • 1a Odisha Sickle Cell Project , National Health Mission (NHM), Veer Surendra Sai Institute of Medical Science and Research (VIMSAR) , Sambalpur, Odisha , India.

Hemoglobin
|April 1, 2017
PubMed

In this short report, we describe the clinical presentation of a rare hemoglobin (Hb) variant, Hb Limassol [β8(A5)Lys→Asn; HBB: c.27G>C] with a faster electrophoretic mobility than Hb A and that elutes in the P3 window on cation exchange high performance liquid chromatography (HPLC). This sequence variation at codon 8 (AAG>AAC) of the HBB gene was found in the four heterozygous cases, all of whom were clinically asymptomatic.

Keywords:
Alkaline electrophoresisDNA sequencingHb Limassolcation exchange high performance liquid chromatography

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